Horizons Issue 3 2011 - National Gaucher Foundation

Winter 2011/2012 • Volume 17, Number 3
A Newsletter for the Gaucher Community From the Genzyme Corporation
The
Genetic
Connection
Inheriting Gaucher Disease Type 1
Understanding the Progression of
Gaucher Disease Type 1
In Your Corner:
Patient Education Liaisons and Genetic Counselors
Seven Tests to Determine
the Best Treatment for
Gaucher Disease
www.cerezyme.com
CZ-US-P413-12-11

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Please see accompanying full Prescribing Information.

Contents
The Genetic Connection ......... 4
In Your Corner
Patient Education Liaisons
and Genetic Counselors ......... 7
Seven Tests to Determine
the Best Treatment for
Gaucher Disease ............... 13
Talking to Siblings of Children
With Gaucher Disease Type 1 .... 15
Understanding the Progression
of Gaucher Disease Type 1 ...... 18
Foreword
When parents face the diagnosis of Gaucher disease type 1 in one of their
children, naturally their concerns become focused on the newly diagnosed
child. However, it’s just as important to discuss a child’s Gaucher disease
type 1 with his or her siblings, whether the diagnosis comes as a surprise or
whether it is already established by the time a sibling is born. Brothers and
sisters play a key role in understanding what it means to live with Gaucher
disease type 1 in the family. That’s why this issue contains an article devoted
to Talking to Siblings of Children With Gaucher Disease Type 1.
After all, Gaucher is a family disease, inherited from parents or grandparents.
Learn more about the Genetic Connection of Gaucher disease type 1 on page 4.
This article explains how the genetic mutation for Gaucher disease type 1 may
be passed from generation to generation, and how a Genetic Counselor or a
Patient Education Liaison may be able to help couples who are carriers or who
have Gaucher disease type 1, to understand the reproductive risks.
A Patient Education Liaison, not only helps educate couples and families so
they know who is at risk and to understand who could benefit from testing, but
he or she is committed to helping the entire family deal with Gaucher disease
type 1. This issue features the article, In Your Corner: Patient Education Liaisons
and Genetic Counselors. These Counselors are often the first people to
explain what a Gaucher disease type 1 diagnosis can mean, in very real terms.
They are the initial educators, helping patients with Gaucher disease type 1 to
understand how the disease progresses and what tests may be involved.
Articles in this issue’s Horizons will also help readers to understand the
progression of Gaucher disease type 1; and to learn about the many tests
that assess the status of the disease, evaluate the effectiveness of an
existing treatment plan, or determine the important next steps in therapy. An
educated patient helps to shape his or her own horizon.
As with every issue of Horizons, we would love to hear your comments
and feedback, so don’t hesitate to send us a note. We look forward to hearing
from you.
—Your team at Genzyme
Cerezyme ® (imiglucerase for injection) is indicated for long-term enzyme replacement therapy for pediatric and adult patients with a
confirmed diagnosis of type 1 Gaucher disease that results in one or more of the following conditions: anemia (low red blood cell count),
thrombocytopenia (low blood platelet count), bone disease, hepatomegaly or splenomegaly (enlarged liver or spleen).
Important Safety Information
Approximately 15% of patients have developed immune responses (antibodies). These patients have a higher risk of an allergic reaction
(hypersensitivity). Use Cerezyme ® (imiglucerase for injection) carefully if you have had an allergic reaction to the product in the past.
Symptoms suggestive of allergic reaction happen in 6.6% of patients, and include anaphylactoid reaction (a serious allergic reaction),
itching, flushing, hives, an accumulation of fluid under the skin, chest discomfort, shortness of breath, coughing, cyanosis (a bluish
discoloration of the skin due to diminished oxygen), and low blood pressure. Side effects related to Cerezyme administration have been
reported in less than 15% of patients. Each of the following events occurred in less than 2% of the total patient population. Reported
side effects include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and rapid heart
rate. Because Cerezyme therapy is administered by intravenous infusion, reactions at the site of injection may occur: discomfort, itching,
burning, swelling or uninfected abscess. Cerezyme is available by prescription only. For more information, consult your physician.
Please see accompanying full Prescribing Information on pages 11-12.
Patients are encouraged to report negative side effects of prescription drugs to the FDA. Visit FDA.gov/medwatch, or call 1-800-FDA-1088.
Please see accompanying full Prescribing Information.
Winter 2011/2012 / Horizons 3

The Genetic Connection
By Margie Schultz
hildren inherit much more than money from their
parents. They inherit genes that determine how
C
they look, some personality traits, and even some
diseases and conditions.
Genes determine whether a person has blue eyes, black
hair, or brown skin, as well as many other traits and characteristics.
Each parent contributes one gene for a given trait. How
those genes combine determine the child’s characteristics.
Just because a parent has a certain trait — say blue
eyes — doesn’t mean all the children will have blue eyes.
It depends on which genes the child inherits. Genetic traits
can be recessive or dominant. If a trait is recessive, dominant
traits will override its contribution, so a person needs
two copies of the recessive gene to have that trait.
For example, as mentioned, blue eyes are a recessive trait.
For a child to have blue eyes, he or she must receive two blueeye
genes — one from each parent. If the child receives a blueeye
gene from mom and a blue-eye gene from dad, the child
will have blue eyes. If the child receives a blue-eye gene from
mom and a brown-eye gene from dad, the child will have brown
eyes because the brown eye gene is dominant.
To complicate the issue, parents do not need to show the
trait themselves to pass it onto their children. They can carry the
gene, but not have the trait. So, in the example above, a couple
can have a blue-eyed child, even if both parents have brown
eyes, as long as both parents carry the blue-eye gene and pass
it to their child.
Inheriting Gaucher disease type 1
In cases where diseases and conditions are genetic, gene
mutations, or abnormal changes in genes, are associated with
diseases, such as Gaucher disease type 1.
4 Horizons / Winter 2011/2012 Please see accompanying full Prescribing Information.

If a parent has Gaucher disease type 1 or carries a gene that
causes Gaucher disease type 1, there is a chance that children
or grandchildren will inherit the condition. Gaucher disease is a
recessive disorder, so the gene can be “masked” by a dominant
non-Gaucher (functioning) gene that does not carry the disease.
Therefore, a child must inherit two copies of the Gaucher
disease type 1 gene, one from each parent, to develop Gaucher
disease.
People who inherit one recessive gene for Gaucher disease
type 1 are carriers; they do not have the disease but can pass it
on to their children.
When one parent is a carrier of Gaucher disease type 1 and
the other parent is not, none of the children will have Gaucher
disease type 1 (see chart below).
In Terms of Genetics…
Allele—1 of 2 copies that are in each gene. An individual
has 2 alleles (copies) of each gene—1 from each
parent—for a specific trait, such as eye color.
Beneficial Mutation Theory—when a “bad” mutation
actually gives a good benefit.
Example: People with sickle cell trait, but not
anemia, are more resistant to malaria, the deadly
mosquito-borne illness found in Africa.
Bottleneck—a type of founder effect (see below) that
occurs when a catastrophic event shrinks a population
down to hundreds of people, reducing its genetic diversity
while at the same time increasing its genetic difference
from the original group.
Carrier—a person with a recessive gene for a disease.
The person does not have the disease but can pass it
down to the next generation.
Dominant Gene—an allele in a gene pair that “masks”
the second allele.
Founder Effect—when members of a tribe or colony
leave the original group to establish a smaller subgroup.
The new group has a smaller gene pool. The subgroup
(who all chose to leave the original group) likely have a
social connection, which further limits diversity.
There is a 50:50 chance, however, that each child the couple
has will inherit the “Gaucher gene” from the carrier parent and
become a carrier of the disorder.
If both parents carry the mutation for Gaucher disease:
• There is a 25% chance of having a child with Gaucher
disease. The child inherits two copies of the gene mutation,
one from each parent.
• There is a 50% chance of having a child who becomes a
carrier of the gene. The child inherits one Gaucher gene and
one functioning gene.
• There is a 25% chance of having a child without Gaucher
disease and who is not a carrier. The child inherits two
functioning genes, one from each parent.
The risks are always the same for each pregnancy, regardless
of the outcome of previous pregnancies. There is a chance that
a woman could have some children with Gaucher and some
without. There is also a chance that all of her children will have
the disease or that none of her children will have the disease.
Genetic Drift—when a gene “drifts” completely out
of the gene pool as a result of people with that gene
leaving the group.
Example: There are 4 mice on an island, 2 black and
2 white. The 2 black mice are swept out to sea,
which leaves just 2 white mice. Without new mice
arriving, future mice will all be white.
Gene Mutation—a change in a normal gene.
Heterozygote—a person with only 1 copy of a gene
mutation or allele. This person would be a carrier for the
disease and could pass it on to the next generation.
Homozygote—a person with 2 copies of a gene mutation
or allele, such as Gaucher disease. This person
would have the disease.
Recessive Gene—an allele in a gene pair whose effect is
“masked” by the second allele.
Please see accompanying full Prescribing Information.
Winter 2011/2012 / Horizons 5

Ashkenazi Jews and Gaucher disease type 1
People of Ashkenazi (European) Jewish ancestry are at higher
risk for several genetic disorders, including Gaucher disease,
Tay-Sachs disease, cystic fibrosis, and Canavan disease.
About 1 in 15 Ashkenazi Jews carry the genetic mutation
associated with Gaucher disease type 1. More than 80% of
cases of Gaucher disease type 1 are attributed to the N370S
gene mutation.
Genetic testing and counseling
People might consider getting a genetic test to find out
their Gaucher disease status if they have close blood relatives
with Gaucher disease type 1 or who carry the Gaucher
gene. Families with a history of Gaucher disease should
discuss the possibility of genetic testing with their physician
or a genetic counselor. In addition, some people of
Ashkenazi descent seek genetic testing before conceiving
regardless of family history.
Genetic counseling is available to couples who are found
to be carriers and those who have a family history of
Gaucher disease type 1. A genetic counselor can discuss the
reproductive risk for Gaucher disease, the predicted severity
of disease in offspring based on the parents’ genotypes, and
the nature of the disease.
Future progress
It is difficult to predict the future for genetic diseases. Medical
progress has allowed some people with life-threatening genetic
conditions to survive and reproduce, increasing the possibility
that the genetic mutations responsible for their disease will be
passed on to future generations.
On the other hand, screening programs in at-risk populations
can contribute to a significant decline in the number of babies
born with a disease, as it has with Tay-Sachs. Public awareness
campaigns should emphasize education about genetic
disorders and screening programs for them.
Two Generations
Melissa Landau Steinman was completely unaware she had
Gaucher disease until she was tested 5 months into her
pregnancy. That was when she found out she had the pair of
genes that cause Gaucher disease type 1. Doctors tested the
umbilical cord blood of her son, Charles, as soon as he was
born and found that he was a carrier for the disease.
Steinman was tested for symptoms of the disease before
she became pregnant with her second child. At that time
she learned that her liver and spleen were enlarged, and so
she began enzyme-replacement therapy with Cerezyme ®
(imiglucerase for injection). She stopped the infusions once she
became pregnant.
Her second son, Jamie, was born with Gaucher disease type
1, having the pair of genes like his mother. He currently shows
no symptoms but is tested annually.
“We’ve taught him from a young age that this is part of his
life, that he has this part of his genes that makes him special,”
Steinman explained. “He hasn’t really had to deal with any
negative consequences at all, other than getting a blood test
once a year. It’s been really good in that respect.”
“Fortunately, today, with the advances in screening and
new treatments, the future is brighter for those with Gaucher
disease type 1,” said Steinman. ”
“Fortunately, today, with the
advances in screening and
new treatments, the future
is brighter for those with
Gaucher disease type 1.”
-Melissa Landau Steinman
6 Horizons / Winter 2011/2012 Please see accompanying full Prescribing Information.

In Your Corner
Patient Education Liaisons and Genetic Counselors
By Nick Sambides Jr. and Cheryl Alkon
M
any illnesses carry genetic components that get
passed among families, within marriages, and
down through generations. Gaucher disease type
1 has so many genetic variables that Genzyme Corporation
employs Certified Genetic Counselors and Patient Education
Liaisons – people employed to explain just what those
genetic elements are and who, within the families of disease
sufferers, might have to contend with them.
It’s a job with many challenges and satisfactions, said
Lisa Sniderman King, a senior Patient Education Liaison and
Certified Genetic Counselor at Genzyme.
“Type 1 Gaucher disease is a relentless progressive condition.
Bodies change, especially as people age or grow physically or gain
weight, and you really need to ensure that the dose of medicine
they [patients] are getting is appropriate,” Sniderman King said.
According to Sniderman King, Genetic Counselors and Patient
Education Liaisons don’t make those types of decisions, but will
encourage patients to adhere to their providers’ recommendations.
“What we do is not based on whether the patients get our
treatment,” said Paula Ciampa, a regional manager of Patient
Education Liaisons (PELs). She oversees several geographic
regions in the US. “We do this because we have the knowledge
and we want them to get the best care. This isn’t about ‘you have
to be on Genzyme’s treatment.’ This is about ‘how to make the
best decision about your care.’”
Decisions, Decisions
The decisions that need to be made by patients with Gaucher
disease type 1 depend largely on the individual and are often more
varied than the genetic components themselves, according to
Debbie Sullivan, one of Genzyme’s four Patient Education Liaisons
and Genetic Counselors in the United States.
Sullivan was recently working with the family of a 50-something
patient with Gaucher disease type 1, whose daughter was about
to marry. The family’s questions: Did the daughter have the illness
Would she suffer the chronic fatigue her mother has to battle
Would her children inherit the disorder Would they be carriers
“Our job,” Sniderman King said, “is to help educate families
so they know who is at risk and to understand who could benefit
from testing.”
In the case of the woman and her engaged daughter, Sullivan
said she found that the daughter did not have the illness, but was
a carrier, and that the chances of her children having the disease
were almost nonexistent.
All in the Family
The genetic permutations of the disease can be tricky, Sniderman
King said.
“You could have patients with severe anemia and bone
involvement and patients in the same family that are practically
asymptomatic,” Sniderman King said. “I know of two siblings that
have the same genetic mutations. One was diagnosed as a child
because of her symptoms — enlarged spleen and nosebleeds
— and her older sister is monitored annually because she was
checked and she has remained asymptomatic.”
PELs are committed to helping the entire family deal with
Gaucher. If a child is diagnosed early in life, for example, a PEL
can help parents work with school officials so that their son or
daughter won’t be penalized for frequent absences that might
occur due to receiving treatment.
“If we meet with parents and they say ‘the school doesn’t understand
what is going on, why is the child missing days of school’
the PEL can step in,” said Kathleen Delaney, the associate director
of the PEL group. Sometimes a child with Gaucher might qualify for
particular accommodations that ensure his or her education won’t be
affected by medical care, such as assignments that can be done at
home, if infusion therapy cannot be scheduled after the school day.
A PEL can help navigate the school system so the family isn’t doing
it all alone. The Patient Education Liaisons can say to the parents, “If
you let me do this for you, you can go back to being a parent.”
The PELs also intimately know the medical setting. “We have a
general knowledge of the disease and know how to work through
the whole system of a hospital,” said Delaney, “and can talk to
healthcare providers. It makes a big difference to have those
people on your team. The Patient Education Liaisons have a sensitivity
to the people in the field, and they really get it.”
The PELs are four Genetic Counselors, each representing 150
to 250 active patients in their respective geographic regions, they
typically meet with families individually to explain the genetic
components of the illness. (They also handle three other rare,
unrelated genetic conditions: Fabry disease, Pompe disease, and
Mucopolysaccharidosis, or MPS I.) Sniderman King is based in
Washington State, in Seattle; Sullivan, in New York City.
Their task often involves being among the first to explain what
a Gaucher disease type 1 diagnosis can mean, in very real terms,
to those who have it, and to their families.
“Because the symptoms can vary widely, even among siblings,
there may be other family members who have it and don’t know
it,” Sniderman King said, “so we can help them get care and
facilitate testing if they want.”
Every family reacts differently, Sullivan said.
“Some are very interested in supporting family members
with the disease and what they are going through. Others are
Please see accompanying full Prescribing Information.
Winter 2011/2012 / Horizons 7

supportive but don’t want to think it could happen to them. And
others don’t want to deal with it at all,” Sullivan said.
“I might question them about their understanding of how they
got it,” Sniderman King said. “If they don’t know, would they
like to know more about it Then we can review the pattern of
inheritance and what the chances are of other family members
having the disease.”
Creating Connections
The hardest part of the work, Sullivan said, isn’t dealing with the
differing family reactions, or visiting families in their homes but
finding enough time to be there for everyone who needs help. – “A
lot of times it just requires a lot of empathy,” she said, “sometimes
putting families in touch with other families is helpful.”
“The stressful part of my job is trying to have enough time for
all of my patients – having enough time to reach out proactively
instead of just being reactive,” Sullivan said. “It’s the geography.
It is difficult to be everywhere at all times. That is our biggest
downside at this point.”
The satisfactions come, Sullivan said, when families find
strength and solace in the information they receive, and when
families meet other families who suffer from the same illness.
“I want to be able to connect with everybody. Not everybody
needs my services, but my goal is to help reach everyone and
identify areas where I can be of help to them,” Sullivan said. “If
they don’t need anything, then great. Then they know they have
one more person in their corner, and who doesn’t need one more
person in their corner”
Patient Perspectives on Patient Education Liaisons
By Cheryl Alkon
Albert McWilliams
Before Albert McWilliams collapsed while working as part of the maintenance
crew at a local Walmart, he’d never so much as had a cold. After he
collapsed, he was rushed to the hospital and learned he had a hip fracture.
Albert and his wife Donna were mystified as doctors tried but failed to
figure out what was wrong.
McWilliams was erroneously diagnosed with backaches, muscle
spasms, osteoporosis, and Paget’s disease. After a frustrating 2 years —
during which he was in constant pain from the waist down, bedridden, and
once begged to have his legs cut off because his pain was so severe — a
doctor finally told him he had Gaucher disease type 1.
But he still didn’t get the optimal care he needed right away.
“We went through 3 years when we were searching for doctors that
could provide the care we needed,” said Donna, now 52, his wife of 20
years. “[Albert] was on half doses of Cerezyme ® (imiglucerase for injection),
and a doctor tried to get him weaned off it” because the physician, at the
time, didn’t understand that such therapy is lifelong.
Frustrated, Donna went online to learn more as she and Albert, now 60,
moved to Memphis, Tennessee. Through Genzyme’s website, Donna found a
nearby doctor who was an expert in Gaucher disease type 1, and also met
Marcella Lawrence, a Genzyme Patient Education Liaison (PEL) based in
Tennessee. Lawrence was able to help the McWilliamses receive the care
— medical and emotional — that they needed.
And for the first time, Albert and Donna didn’t feel so alone.
“We were invited to a Christmas party [a patient meeting organized by
Lawrence and sponsored by Genzyme] and got to meet other people,” said
Donna. “We had never met others with Gaucher before.”
“Marcella would take the time to help us through emotionally, said Donna
McWilliams.” Today, 9 years after first being diagnosed with Gaucher disease
type 1, her once-bedridden husband can walk with a cane and “has a life again.”
“I put out fires, and I do a lot of patient meetings,” said Lawrence, who
has worked as a PEL for 7 years and oversees approximately 400 patients—
including about 250 with Gaucher disease type 1—in Tennessee, Georgia,
Mississippi, and Florida. “It’s the best job, because we have the luxury of
working so closely with the patients. I believe it’s one of the most satisfying
jobs at Genzyme.”
“The amount of information she shared with us—it helped us realize
we weren’t the only ones dealing with this,” said Donna McWilliams.
“Seriously, we wouldn’t know what to do without Marcella.”
Nancy McCorry
When Nancy McCorry’s health insurance changed in 2010, she worried
about how her Gaucher disease type 1 care might change. The New Jersey
resident, now 45, had been receiving infusion therapy at a hospital for the
prior 5 years but learned she would qualify for home care infusions with
her new coverage.
“When I was meeting a new nurse for the first time, I felt nervous as to
how the infusion was going to go,” she said. “I wanted to be comfortable
knowing she knew how to handle the medicine, how to mix it, and how
to infuse it.” McCorry’s PEL, Kathleen O’Keeffe, has worked for the past
5 years with approximately 300 patients in New York and New Jersey.
O’Keeffe talked to the new nurse and even attended McCorry’s first home
infusion visit to help oversee the process.
“They [the patients] can sit with us and share their comments, concerns,
and stresses,” O’Keeffe said. “We provide ongoing support to all patients
that have signed HIPAA (Health Insurance Portability and Accountability
Act) consent with Genzyme. We help support the management of any
clinical issues and adherence to treatment recommendations. We then
help facilitate this information back to the patient’s primary physician and
healthcare advocates to help optimize their care.”
“Kathleen was so knowledgeable, personable, and approachable, and I even
learned a lot about my own disease that day,” said McCorry. “My new nurse
did as well, and it was a great experience for all. After my treatment, that day,
Kathleen followed up with me and gave me great comfort that I was in good
hands. And almost a year later, I still love my new nurse. Kathleen was instrumental
in making the transition completely seamless and nonstressful.”
8 Horizons / Winter 2011/2012 Please see accompanying full Prescribing Information.

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200 UNITS
400 UNITS
(0.12 ± 0.02 L/kg). These variables do not appear to be influenced by
dose or duration of infusion. However, only one or two patients were
studied at each dose level and infusion rate. The pharmacokinetics of
Cerezyme do not appear to be different from placental-derived
alglucerase (Ceredase ® ).
In patients who developed IgG antibody to Cerezyme, an apparent effect
on serum enzyme levels resulted in diminished volume of distribution
and clearance and increased elimination half-life compared to patients
without antibody (see WARNINGS).
DESCRIPTION
Cerezyme ® (imiglucerase for injection) is an analogue of the human
enzyme ß-glucocerebrosidase, produced by recombinant DNA
technology. ß-Glucocerebrosidase (ß-D-glucosyl-N-acylsphingosine
glucohydrolase, E.C. 3.2.1.45) is a lysosomal glycoprotein enzyme which
catalyzes the hydrolysis of the glycolipid glucocerebroside to glucose
and ceramide.
Cerezyme ® is produced by recombinant DNA technology using
mammalian cell culture (Chinese hamster ovary). Purified imiglucerase is
a monomeric glycoprotein of 497 amino acids, containing 4 N-linked
glycosylation sites (Mr = 60,430). Imiglucerase differs from placental
glucocerebrosidase by one amino acid at position 495, where histidine is
substituted for arginine. The oligosaccharide chains at the glycosylation
sites have been modified to terminate in mannose sugars.
The modified carbohydrate structures on imiglucerase are somewhat
different from those on placental glucocerebrosidase. These
mannose-terminated oligosaccharide chains of imiglucerase are
specifically recognized by endocytic carbohydrate receptors on
macrophages, the cells that accumulate lipid in Gaucher disease.
Cerezyme ® is supplied as a sterile, non-pyrogenic, white to off-white
lyophilized product. The quantitative composition of the lyophilized drug
is provided in the following table:
Ingredient 200 Unit Vial 400 Unit Vial
Imiglucerase (total amount)* 212 units 424 units
Mannitol 170 mg 340 mg
Sodium Citrates
70 mg
140 mg
(Trisodium Citrate)
(Disodium Hydrogen Citrate)
(52 mg)
(18 mg)
(104 mg)
(36 mg)
Polysorbate 80, NF 0.53 mg 1.06 mg
Citric Acid and/or Sodium Hydroxide may have been added at the time of
manufacture to adjust pH.
*This provides a respective withdrawal dose of 200 and 400 units of
imiglucerase.
An enzyme unit (U) is defined as the amount of enzyme that catalyzes
the hydrolysis of 1 micromole of the synthetic substrate
para-nitrophenyl-ß-D-glucopyranoside (pNP-Glc) per minute at 37°C.
The product is stored at 2-8°C (36-46°F). After reconstitution with Sterile
Water for Injection, USP, the imiglucerase concentration is 40 U/mL
(see DOSAGE AND ADMINISTRATION for final concentrations and
volumes). Reconstituted solutions have a pH of approximately 6.1.
CLINICAL PHARMACOLOGY
Mechanism of Action/Pharmacodynamics
Gaucher disease is characterized by a deficiency of
ß-glucocerebrosidase activity, resulting in accumulation of
glucocerebroside in tissue macrophages which become engorged and
are typically found in the liver, spleen, and bone marrow and
occasionally in lung, kidney, and intestine. Secondary hematologic
sequelae include severe anemia and thrombocytopenia in addition to the
characteristic progressive hepatosplenomegaly, skeletal complications,
including osteonecrosis and osteopenia with secondary pathological
fractures. Cerezyme ® (imiglucerase for injection) catalyzes the hydrolysis
of glucocerebroside to glucose and ceramide. In clinical trials, Cerezyme
improved anemia and thrombocytopenia, reduced spleen and liver size,
and decreased cachexia to a degree similar to that observed with
Ceredase ® (alglucerase injection).
Pharmacokinetics
During one-hour intravenous infusions of four doses (7.5, 15, 30, 60
U/kg) of Cerezyme ® (imiglucerase for injection), steady-state enzymatic
activity was achieved by 30 minutes. Following infusion, plasma
enzymatic activity declined rapidly with a half-life ranging from
3.6 to 10.4 minutes. Plasma clearance ranged from 9.8 to 20.3
mL/min/kg (mean ± S.D., 14.5 ± 4.0 mL/min/kg). The volume of
distribution corrected for weight ranged from 0.09 to 0.15 L/kg
INDICATIONS AND USAGE
Cerezyme ® (imiglucerase for injection) is indicated for long-term enzyme
replacement therapy for pediatric and adult patients with a confirmed
diagnosis of Type 1 Gaucher disease that results in one or more of the
following conditions:
a. anemia
b. thrombocytopenia
c. bone disease
d. hepatomegaly or splenomegaly
CONTRAINDICATIONS
There are no known contraindications to the use of Cerezyme ®
(imiglucerase for injection). Treatment with Cerezyme should be
carefully re-evaluated if there is significant clinical evidence of
hypersensitivity to the product.
WARNINGS
Approximately 15% of patients treated and tested to date have
developed IgG antibody to Cerezyme ® (imiglucerase for injection) during
the first year of therapy. Patients who developed IgG antibody did so
largely within 6 months of treatment and rarely developed antibodies to
Cerezyme after 12 months of therapy. Approximately 46% of patients
with detectable IgG antibodies experienced symptoms of
hypersensitivity.
Patients with antibody to Cerezyme have a higher risk of
hypersensitivity reaction. Conversely, not all patients with symptoms of
hypersensitivity have detectable IgG antibody. It is suggested that
patients be monitored periodically for IgG antibody formation during the
first year of treatment.
Treatment with Cerezyme should be approached with caution in patients
who have exhibited symptoms of hypersensitivity to the product.
Anaphylactoid reaction has been reported in less than 1% of the patient
population. Further treatment with imiglucerase should be conducted
with caution. Most patients have successfully continued therapy after a
reduction in rate of infusion and pretreatment with antihistamines and/or
corticosteroids.
PRECAUTIONS
General
In less than 1% of the patient population, pulmonary hypertension and
pneumonia have also been observed during treatment with Cerezyme ®
(imiglucerase for injection). Pulmonary hypertension and pneumonia are
known complications of Gaucher disease and have been observed both
in patients receiving and not receiving Cerezyme. No causal relationship
with Cerezyme has been established. Patients with respiratory
symptoms in the absence of fever should be evaluated for the presence
of pulmonary hypertension.
Therapy with Cerezyme should be directed by physicians
knowledgeable in the management of patients with Gaucher disease.
Caution may be advisable in administration of Cerezyme to patients
previously treated with Ceredase ® (alglucerase injection) and who
have developed antibody to Ceredase or who have exhibited symptoms
of hypersensitivity to Ceredase.
65

Carcinogenesis, Mutagenesis, Impairment of Fertility
Studies have not been conducted in either animals or humans to assess
the potential effects of Cerezyme ® (imiglucerase for injection) on
carcinogenesis, mutagenesis, or impairment of fertility.
Teratogenic Effects: Pregnancy Category C
Animal reproduction studies have not been conducted with Cerezyme ®
(imiglucerase for injection). It is also not known whether Cerezyme
can cause fetal harm when administered to a pregnant woman or can
affect reproductive capacity. Cerezyme should not be administered
during pregnancy except when the indication and need are clear and the
potential benefit is judged by the physician to substantially justify the risk.
Nursing Mothers
It is not known whether this drug is excreted in human milk. Because
many drugs are excreted in human milk, caution should be exercised
when Cerezyme ® (imiglucerase for injection) is administered to a nursing
woman.
Pediatric Use
The safety and effectiveness of Cerezyme ® (imiglucerase for injection)
have been established in patients between 2 and 16 years of age. Use of
Cerezyme in this age group is supported by evidence from adequate
and well-controlled studies of Cerezyme and Ceredase ®
(alglucerase injection) in adults and pediatric patients, with additional
data obtained from the medical literature and from long-term
post-marketing experience. Cerezyme has been administered to patients
younger than 2 years of age, however the safety and effectiveness in
patients younger than 2 have not been established.
ADVERSE REACTIONS
Since the approval of Cerezyme ® (imiglucerase for injection) in May
1994, Genzyme has maintained a worldwide post-marketing database of
spontaneously reported adverse events and adverse events discussed in
the medical literature. The percentage of events for each reported
adverse reaction term has been calculated using the number of patients
from these sources as the denominator for total patient exposure to
Cerezyme since 1994. Actual patient exposure is difficult to obtain due
to the voluntary nature of the database and the continuous accrual and
loss of patients over that span of time. The actual number of patients
exposed to Cerezyme since 1994 is likely to be greater than estimated
from these voluntary sources and, therefore, the percentages calculated
for the frequencies of adverse reactions are most likely greater than the
actual incidences.
Experience in patients treated with Cerezyme has revealed that
approximately 13.8% of patients experienced adverse events which were
judged to be related to Cerezyme administration and which occurred
with an increase in frequency. Some of the adverse events were related
to the route of administration. These include discomfort, pruritus,
burning, swelling or sterile abscess at the site of venipuncture. Each of
these events was found to occur in < 1% of the total patient population.
Symptoms suggestive of hypersensitivity have been noted in
approximately 6.6% of patients. Onset of such symptoms has occurred
during or shortly after infusions; these symptoms include pruritus,
flushing, urticaria, angioedema, chest discomfort, dyspnea, coughing,
cyanosis, and hypotension. Anaphylactoid reaction has also been
reported (see WARNINGS). Each of these events was found to occur in
< 1.5% of the total patient population. Pre-treatment with antihistamines
and/or corticosteroids and reduced rate of infusion have allowed
continued use of Cerezyme in most patients.
Additional adverse reactions that have been reported in
approximately 6.5% of patients treated with Cerezyme include: nausea,
abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever,
dizziness, chills, backache, and tachycardia. Each of these events was
found to occur in < 1.5% of the total patient population.
Incidence rates cannot be calculated from the spontaneously reported
adverse events in the post-marketing database. From this database, the
most commonly reported adverse events in children (defined as ages
2 – 12 years) included dyspnea, fever, nausea, flushing, vomiting, and
coughing, whereas in adolescents (>12 – 16 years) and in adults
(>16 years) the most commonly reported events included headache,
pruritus, and rash.
In addition to the adverse reactions that have been observed in patients
treated with Cerezyme, transient peripheral edema has been reported
for this therapeutic class of drug.
OVERDOSE
Experience with doses up to 240 U/kg every 2 weeks have been
reported. At that dose there have been no reports of obvious toxicity.
DOSAGE AND ADMINISTRATION
Cerezyme ® (imiglucerase for injection) is administered by intravenous
infusion over 1-2 hours. Dosage should be individualized to each patient.
Initial dosages range from 2.5 U/kg of body weight 3 times a week to 60
U/kg once every 2 weeks. 60 U/kg every 2 weeks is the dosage for which
the most data are available. Disease severity may dictate that treatment
be initiated at a relatively high dose or relatively frequent administration.
Dosage adjustments should be made on an individual basis and may
increase or decrease, based on achievement of therapeutic goals as
assessed by routine comprehensive evaluations of the patient’s clinical
manifestations.
Cerezyme ® should be stored at 2-8°C (36-46°F). After reconstitution,
Cerezyme should be inspected visually before use. Because this is a
protein solution, slight flocculation (described as thin translucent fibers)
occurs occasionally after dilution. The diluted solution may be filtered
through an in-line low protein-binding 0.2 μm filter during administration.
Any vials exhibiting opaque particles or discoloration should not be used.
DO NOT USE Cerezyme after the expiration date on the vial.
On the day of use, after the correct amount of Cerezyme to be
administered to the patient has been determined, the appropriate
number of vials are each reconstituted with Sterile Water for Injection,
USP. The final concentrations and administration volumes are provided in
the following table:
200 Unit Vial 400 Unit Vial
Sterile water for reconstitution 5.1 mL 10.2 mL
Final volume of
reconstituted product
5.3 mL 10.6 mL
Concentration after
reconstitution
40 U/mL 40 U/mL
Withdrawal volume 5.0 mL 10.0 mL
Units of enzyme
within final volume
200 units 400 units
A nominal 5.0 mL for the 200 unit vial (10.0 mL for the 400 unit vial) is
withdrawn from each vial. The appropriate amount of Cerezyme for each
patient is diluted with 0.9% Sodium Chloride Injection, USP, to a final
volume of 100 – 200 mL. Cerezyme is administered by intravenous
infusion over 1-2 hours. Aseptic techniques should be used when diluting
the dose. Since Cerezyme does not contain any preservative, after
reconstitution, vials should be promptly diluted and not stored for
subsequent use. Cerezyme, after reconstitution, has been shown to be
stable for up to 12 hours when stored at room temperature (25°C) and at
2-8°C. Cerezyme, when diluted, has been shown to be stable for up to
24 hours when stored at 2-8°C.
Relatively low toxicity, combined with the extended time course of
response, allows small dosage adjustments to be made occasionally to
avoid discarding partially used bottles. Thus, the dosage administered in
individual infusions may be slightly increased or decreased to utilize fully
each vial as long as the monthly administered dosage remains
substantially unaltered.
HOW SUPPLIED
Cerezyme ® (imiglucerase for injection) is supplied as a sterile, non-pyrogenic,
lyophilized product. It is available as follows:
200 Units per Vial NDC 58468-1983-1
400 Units per Vial NDC 58468-4663-1
Store at 2-8°C (36-46°F).
Rx only
Cerezyme ® (imiglucerase for injection) is manufactured by:
Genzyme Corporation
500 Kendall Street
Cambridge, MA 02142 USA
Certain manufacturing operations may have been performed by other firms.
Cerezyme and Genzyme are registered trademarks of Genzyme Corporation.
6LE0005D

Seven Tests to Determine the
Best Treatment for Gaucher Disease
By Margie Schultz
o determine the best treatments for Gaucher
disease type 1, doctors must first examine the
T
patient and find out his or her medical history,
then order several tests. This information will enable the
doctor to set the patient’s individual treatment goals.
Patients should have comprehensive monitoring tests at
least once a year. Even if they are feeling well and currently
are not receiving specific treatment, a yearly assessment
can determine if they are experiencing any of the damaging
effects of Gaucher disease type 1.
What’s Happening Inside the Body
In Gaucher disease type 1, changes can take place in several
organs of the body, including the following 1 :
• Bones can become thinner, weaker than normal, and prone to
fracture. 2
• Blood involvement may include: low red blood cells, platelet,
and white blood cell counts. 2
• The spleen can swell up to 75 times its normal size. 2
• The liver can enlarge up to 2½ times its normal size. 2
Diagnostic Tests for Gaucher Disease
The tests below can arm the doctor and patient with the information
needed to assess the status of the disease, evaluate the
effectiveness of an existing treatment plan, or determine the
important next steps in therapy.
Scans
Doctors can choose one or more of the recommended scans
for Gaucher disease type 1: x-rays, magnetic resonance imaging
(MRI), dual-energy x-ray absorptiometry (DEXA), and computed
tomography (CT).
Test #1: X-ray: Detects fractures and late bone problems.
However, it is not the best way to assess changes in the bone
marrow, the strength of bones, or early signs of bone disease. 3,4
Test #2: MRI of the Bones: Uses magnets and radio waves to
make three-dimensional pictures of parts of the body. MRI is a
powerful and sensitive tool for monitoring the bones. 3,4
Test #3: DEXA of the Bones: Measures bone mineral density
(BMD), which indicates bone strength. 4
Test #4: MRI or CT of the Liver and Spleen: Produces pictures
of the inside of the abdomen. These can show the size and
structure of the spleen and liver. 3,4
Blood Tests
Having regular blood tests can help the doctor find and treat
problems early. Below are some commonly used tests for
Gaucher disease type 1.
Test #5: Hemoglobin Test: Measures the total amount of
hemoglobin in the blood. Hemoglobin, a part of red blood cells,
carries oxygen. A low hemoglobin level is a sign of anemia. 3
Test #6: Platelet Count: Measures the number of platelets in
the blood. Platelets are needed for clotting blood. A low platelet
count may be the cause of bruising and bleeding. 3
Test #7: Biochemical Evaluations: Specific blood tests that can
pick up subtle changes in the disease and are useful for some
patients. 3
Teaming Up With the Healthcare Team
Gaucher disease type 1 can affect many aspects of a patient’s
life. The healthcare team needs to know how the disease is
affecting a patient’s well-being. To do that, the doctor or nurse
may ask a patient several questions about changes in his or her
quality of daily life.
Healthcare providers may ask a patient to complete a questionnaire
called an SF-36 Health Survey. It contains questions
and possible responses such as the following:
• How would you rate your health today
(excellent, good, fair, poor)
• How does your health today compare with your health
last year (same, better, worse)
• How does your health affect your ability to do certain
activities (limited a lot, a little, not at all)
Please see accompanying full Prescribing Information.
Winter 2011/2012 / Horizons 13

The answers can help the medical team discuss the
impact of the disease with patients and suggest strategies
to help them cope.
It’s always helpful to make a list of questions
to discuss with the doctor in preparation for the
next visit.
For instance, questions patients might want to ask
their doctors about their blood test results are:
• How are these results different from past results
• What do these results mean for my treatment
• How often will I need follow-up blood tests
When patients become partners with their medical
team in the treatment of Gaucher disease,
everyone wins.
References
1. Goker-Alpan, O. Therapeutic approaches to bone pathology
in Gaucher disease: Past, present and future. Mol Genet
Metab. 2011;104(4):438-447.
2. Pastores GM, Hughes DA. Gaucher disease, in: Pagon
RA, Bird TD, Dolan CR, Stephens K, editors.GeneReviews
[Internet]. Seattle (WA): University of Washington, Seattle;
1993-2000 Jul 27 [updated 2011 Jul 21]. Accessed December
15, 2011.
3. New York Times Health Guide: Gaucher Disease. Exams and
tests. http://health.nytimes.com/health/guides/disease/gaucherdisease/overview.html.
Accessed December 15, 2011.
4. Maas M, Poll LW, Terk MR. Imaging and quantifying
skeletal involvement in Gaucher disease. Br J Radiol.
2002;75 Suppl 1:A13-24.
A Patient Who Put the “T” in Team
Colleen Keegan was diagnosed with Gaucher disease in 1962, when she was
14 years old. At the time, there were few treatments and little was known
about the disorder. Her disease progressively worsened, and by the time
Colleen reached her early 40s, it had taken a toll on her overall health.
“My hemoglobin level was at 6 and my platelet count was at 6000,” she
said. Her condition became so critical that she had to undergo regular blood
transfusions. “I could barely walk,” she recalled.
In October 1990, she read an article in her local newspaper about an
experimental medication being tested as a treatment for Gaucher disease type
1. “Because I came across that article and learned about a drug that was an
earlier version of Cerezyme, Ceredase ® (alglucerase for injection), I believe my
life has improved so dramatically,” she said.
Colleen showed the newspaper article to her doctor and to her hematologist.
They agreed the new therapy was “very exciting,” but said because it was
considered experimental and would be difficult to initiate. Colleen did not give
up. She tried to get accepted for a trial but was rejected because she had had
her spleen removed earlier.
Several months later, Colleen read that the US Food and Drug Administration
had approved the medication. Through her physicians, she contacted Genzyme
about starting regular treatment. A Genzyme representative and Colleen’s
physicians worked together to secure coverage for the treatment from her
insurance provider. Colleen’s condition responded to the new treatment.
“I felt I had energy for the first time,” she said after treatment.
Teaming up with her physician, her hematologist, and Genzyme enabled Colleen
to get the treatment she needed to combat Gaucher disease type 1. Speaking
up about their own health is the most powerful tool that patients have in
confronting illness head on — and winning.
Indications and Usage
Cerezyme ® (imiglucerase for injection) is indicated for long-term enzyme replacement therapy for pediatric and adult patients with
a confirmed diagnosis of type 1 Gaucher disease that results in one or more of the following conditions: anemia (low red blood cell
count), thrombocytopenia (low blood platelet count), bone disease, hepatomegaly or splenomegaly (enlarged liver or spleen).
Important Safety Information
Approximately 15% of patients have developed immune responses (antibodies). These patients have a higher risk of an allergic
reaction (hypersensitivity). Use Cerezyme ® (imiglucerase for injection) carefully if you have had an allergic reaction to the
product in the past. Symptoms suggestive of allergic reaction happen in 6.6% of patients, and include anaphylactoid reaction (a
serious allergic reaction), itching, flushing, hives, an accumulation of fluid under the skin, chest discomfort, shortness of breath,
coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), and low blood pressure. Side effects related
to Cerezyme administration have been reported in less than 15% of patients. Each of the following events occurred in less
than 2% of the total patient population. Reported side effects include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue,
headache, fever, dizziness, chills, backache, and rapid heart rate. Because Cerezyme therapy is administered by intravenous
infusion, reactions at the site of injection may occur: discomfort, itching, burning, swelling or uninfected abscess. Cerezyme is
available by prescription only. For more information, consult your physician. To learn more, please see the enclosed full product
information or contact Genzyme at 1-800-745-4447 (option 2).
Please see accompanying full Prescribing Information on pages 11-12.
14 Horizons / Winter 2011/2012 Please see accompanying full Prescribing Information.

Talking to Siblings of Children With
Gaucher Disease Type 1
By Cheryl Alkon
W
hen Betsy Simon was diagnosed with Gaucher
disease type 1, nearly 30 years ago, at age 3,
her doctor first thought she had a kidney tumor.
After a routine check-up with her pediatrician, Simon was
admitted to the local hospital and spent a week there with
her mother. As she and her mother learned about Gaucher
disease type 1, which in those days had no treatment,
Simon’s then 5-year-old brother Michael stayed at home
with their father. It was a confusing time.
This series of events occurred shortly after the family
had moved to Philadelphia. “Imagine moving to a new city
and having your mother disappear for a week,” explained
Simon. Once her family learned about Gaucher disease type
1, Simon said, her parents often focused on her.
“I certainly got more of the fair share of the attention
growing up,” said Simon, now 32. “My mother wanted to
go out and buy the whole toy store for me. But it’s important
to make sure the healthy child isn’t ignored.”
Open Communication
It’s important to discuss a child’s Gaucher disease type 1 with
his or her siblings, whether the diagnosis comes as a surprise
or whether it is already established by the time a sibling is
born. Brothers and sisters who learn about what Gaucher
disease type 1 is—including treatments, how genetics play
a role, and how a person’s status with Gaucher disease
type 1 can affect the health of immediate offspring or future
generations — all play a key role in understanding what it
means to live with Gaucher disease type 1 in the family.
“Poor or no communication with siblings of an affected
person can lead to confusion about the risk to themselves
and their offspring,“ said Gary S. Frohlich, a Certified Genetic
Counselor and a Senior Patient Education Liaison with
Genzyme. “This, in turn, could lead to poor reproductive decisions,
lowered self-esteem, and a decay of the cohesiveness
of the family unit.”
In a study published this year in the Journal of Genetic
Counseling, 1 researchers in the United Kingdom interviewed
siblings and parents from 33 families that included children
Please see accompanying full Prescribing Information.
Winter 2011/2012 / Horizons 15

diagnosed with different inherited genetic conditions. These
conditions included cystic fibrosis and Duchenne muscular
dystrophy, among others. (Gaucher disease type 1 was not
represented in the study.) In the research, titled “Parents’
Communication with Siblings of Children Affected by an
Inherited Genetic Condition,” the study’s authors found that
siblings wanted to learn about the affected child’s condition,
but were more likely to see how the condition was managed,
rather than being fully aware of the genetic risk of developing
or passing on the condition itself.
“From as young as 8 years, they began to understand the
notion of heredity in terms of the condition being ‘passed down’
through the family,” writes researcher Alison Metcalfe, of the
Florence Nightingale School of Nursing and Midwifery at King’s
College London. “However, although they understood the dayto-day
impact of the condition by 8 to 11 years, most could not
describe the heredity patterns or accurately quantify risk until
they were 15 to 16 years or older.” The researchers added that
“siblings who were at risk of being carriers did not usually have
any idea how many people in the population might be carriers,
and thus what the chance might be of them meeting a partner
who was also a carrier.”
According to the National Gaucher Foundation, Gaucher
carriers may be as common as 1 in 10 Jewish people of
Eastern European ancestry, and 1 in 200 people in the general
population.
One program has been established to help prevent the
transmission of a number of genetic disorders, primarily among
the Orthodox Jewish population. Known as Dor Yeshorim, the
program assigns people numbers for anonymity and gives
blood tests for susceptibility to a number of genetic disorders
found predominantly among the Jewish population (the
program can test for Gaucher disease type 1 carrier status
upon request). Once a couple begins thinking about marriage,
typically early in the dating process among Orthodox Jews, the
couple can submit their numbers and learn if they are genetically
compatible or whether or not it makes sense to consider
other partners.
What To Say
Whether your family’s background is Orthodox Judaism
or something else, how do you talk to your children about
Gaucher It depends on their age, maturity level, and other
factors. “It’s like talking to your kids about sex as they
grow up,” said Frohlich. “If you listen to their questions
and answer their questions, you’ll provide an answer that
is age appropriate. You don’t want to overwhelm a child
with too much information. You don’t necessarily need to
16 Horizons / Winter 2011/2012 Please see accompanying full Prescribing Information.

elaborate beyond their question,
because that’s not what they’re
asking.”
While some parents actively decide
to withhold details about genetic
diseases from their unaffected
children, subjects in the UK study
reported that those siblings hungered
for more, rather than less, knowledge.
“Affected and unaffected children
of all ages (8 years upwards)
consistently said they wanted to
receive information about the genetic
condition from a young age,” the
study authors wrote. “Children wanted to be able to discuss
this information within their families throughout childhood.”
Parents and children in the study said that they did not regret
discussing the genetic illness among the family, but for those
families who specifically did not talk about the conditions, the
unaffected children “were more likely to show resentment
or withdraw from the affected child,” wrote study authors.
“Children in families where the condition was discussed more
openly still expressed uncertainties and concerns, but they
also demonstrated understanding for their affected sibling and
a better understanding of their role within their family.”
Frohlich noted that siblings of children with Gaucher
disease type 1 often receive relatively little support outside
of the family, a point also emphasized by the study’s authors.
“Parents need to specifically consider siblings in terms of their
information needs and inclusion in family discussions,” they
wrote. “They need to tell them they are open to discussing
the condition with them, and continue talking to them as they
grow up… Genetic counselors and other health professionals
should support the whole family as a unit, which includes
helping parents to realize the importance of including unaffected
siblings in this coping process.”
Where to Find Support
Frohlich is one of Genzyme’s team of Patient Education
Liaisons, representatives who work together with Gaucher
patients and their healthcare team to ensure the best care and
optimal treatments for those living with Gaucher disease type 1.
This can include finding resources, including support groups or
mental health providers who can offer siblings help and insight.
Elsewhere, the National Gaucher Foundation offers a Mentor
Program that enables people to email or telephone others living
with Gaucher. The group of available mentors includes people
diagnosed with Gaucher, as well as parents of children with
Gaucher, either directly or as parents, to offer advice about
talking to siblings. (See http://www.gaucherdisease.org/mentor_
program.php).
Rosalie Borovetz is a National Gaucher Foundation Mentor
based in Pennsylvania; her daughter Betsy was diagnosed with
Gaucher at age 3 in 1982. The elder Borovetz said that she
was always open with her son,
Michael, who is 2 years older,
about his sister’s condition — just
as she was with her affected
daughter.
“My son was always aware
of his sister’s Gaucher and the
treatment she was receiving,”
she said. “We spoke frankly
with him without alarming him. I
think it is important for siblings to
know and understand when treatment
is planned, and it should be
explained to them in the same
way it would be explained to the patient. Siblings should be
allowed to be present during treatment, and if an in-patient
admission is necessary, they should be allowed to visit the
hospital.”
Like Betsy Simon, Borovetz discussed the importance of
acknowledging the unaffected child’s needs. “It’s important to
include siblings when considering treatment options,” Borovetz
said. “Sometimes the Gaucher child becomes the focus of
attention, and the other siblings get less time and attention
from parents. But they also need quality time and attention.”
Today, Borovetz’s son is in his early 30s and single. As a
Gaucher disease type 1 carrier, he talks to potential mates about
his sister’s condition and would expect his spouse to be tested
before starting a family, she said.
For Betsy Simon, who is an Orthodox Jew, having Gaucher
disease type 1 was not an issue when she met her husband,
though it can be among a community where being a carrier,
or having Gaucher disease type 1 itself, can be seen as a
stigma. Her two daughters, ages 9 and 2, have watched their
mother receive infusion therapy every 2 weeks and for them,
that is normal. Both girls are Gaucher disease type 1 carriers,
which Simon plans to discuss with them. “We plan to talk
to them about what that means, and whether they’d want
to marry another carrier,” she said. Her husband, who does
not have any gene for Gaucher disease type 1, never had
an issue with Simon’s condition, and it is something Simon
hopes her own children will find when they are ready to
consider marriage.
“I am sure when my kids are ready to get married, they may
find that people may reject them because they are Gaucher
carriers,” said Simon. “But the older I get, the more you really
realize that the people who might give you a hard time about
being a Gaucher carrier — there are other reasons to avoid
them. When you find the right match, you’ve found it.”
Reference
1. Plumridge G, Metcalfe A, Coad J, Gill P. Parents’ communication
with siblings of children affected by an inherited genetic condition.
J Genet Counsel. 2011;20:374-383.
Please see accompanying full Prescribing Information.
Winter 2011/2012 / Horizons 17

Understanding the Progression of
Gaucher Disease Type 1
G
aucher disease type 1 is progressive, meaning that
it worsens over time when left untreated. The rate
of progression and specific signs and symptoms
can vary widely from one person to another. Some people
with Gaucher disease type 1 experience symptoms during
childhood, while others remain symptom-free well into
adulthood.
Some advanced signs and symptoms that may develop
from Gaucher disease type 1 include advanced liver disease,
advanced bone disease, pulmonary hypertension (high blood
pressure in the arteries of the lungs), and decreased life
expectancy. 1 The dangers of unchecked Gaucher disease
type 1 highlight the importance of being diagnosed,
monitored regularly, and treated as early as possible.
Unchecked Path of the Disease
Several conditions can occur with untreated Gaucher disease
type 1 that affect the bone, liver, spleen and blood.
Bone Complications 2,3
Gaucher disease type 1 can cause reduced mass and density
of bone tissue, weakening the bones. The disease’s bonerelated
symptoms can be particularly painful and debilitating,
and impair a person’s ability to walk.
The severity of bone disease in patients with Gaucher
disease type 1 varies according to several different factors,
including age, whether or not the patient has had his or her
spleen removed, and stage of progression. Some patients have
few complaints about their bones, while others may suffer
symptoms so severe they require a wheelchair.
More than 80% of patients with Gaucher disease type 1
have evidence of bone involvement, 4 which can cause serious
skeletal and joint-related conditions. Individuals often have an
ongoing need for rehabilitation therapy, and orthopedic and pain
management.
Fractures due to bone lesions or thinning of the bone may
occur. These are sometimes due to removal of the spleen.
Today, removal of the spleen is much less common and is
generally considered an emergency option based on the individual
patient’s condition and needs.
Children with Gaucher disease type 1 can also have skeletal
involvement. They often are shorter than children without Gaucher
disease. However, most of these children catch up to their peers
in puberty, which can be delayed. 3 Identifying the disease in children
based on symptomatology can present its own challenges,
because it’s difficult for doctors to predict a child’s growth pattern
or what signs/symptoms he or she may experience. Therefore,
children require follow-ups to ensure proper treatment.
Future Therapy
Since its discovery, enzyme replacement therapy with
Cerezyme ® (imiglucerase for injection) has been shown
to help reduce, relieve, or reverse many of the signs and
symptoms of Gaucher disease type 1. Now, Genzyme is
researching an oral therapy that would be delivered as a pill.
Genzyme is testing the new therapy in more than
300 patients worldwide. The potential new therapy may
allow patients with Gaucher disease type 1 to take a
medication orally twice a day rather than an infusion
therapy every 2 weeks.
If the oral medication is approved for use in adults, then
Genzyme will begin testing the new medication in children.
Reference
1. www.clinicaltrials.gov.
18 Horizons / Winter 2011/2012 Please see accompanying full Prescribing Information.

Setting Therapy Goals
The goals for improving the lives of patients with Gaucher
disease type 1 are related to preventing damage to the body
and/or treating the conditions that cause progression of the
disease. These goals target the following:
• Increase hemoglobin level/red blood cell count
(prevent/treat anemia)
• Improve platelet count (prevent easy bleeding and bruising)
• Reduce and maintain spleen size
• Reduce and maintain liver size
• Reduce bone pain
• Prevent “bone crises” (severe pain, usually with fever)
• Combat weight loss and loss of body mass
• Lessen symptoms like abdominal pain, bloating, and fatigue
• Improve quality of life
Reference
1. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the
treatment of Gaucher disease. Semin Hematol. 2004:41(suppl 5);4-14.
Enlarged Liver and Spleen 3
Gaucher disease type 1 can cause an enlarged liver, with
volume increased up to 2 ½ times its normal size. This can
restrict blood flow, cause severe pain, and lead to fibrosis
(scarring) of the liver. 3
An enlarged, overactive spleen reduces the platelets, contributing
to bleeding complications. It can also reduce the number
of available white blood cells, which help the body fight infections.
This may reduce a patient’s immune system function
and make him or her more prone to infection. 3 Symptoms can
include abdominal pain and a full, bloated feeling.
Blood Complications 3
Gaucher disease type 1 can cause abnormal blood levels.
Hemoglobin, which is the part of red blood cells that carry
oxygen, can become dangerously low. This can cause anemia.
Symptoms of anemia include severe fatigue and weakness.
Low platelet count caused by the disease can prevent normal
blood clotting, and can be the cause of abnormal bleeding or
bruising. Conditions can also create the need for blood transfusions
in patients.
References
1. Gaucher Disease: Understanding Disease Progression. Available at:
http://www.cerezyme.com/patients/gaucher_disease/understanding_
disease_progression.aspx. Accessed December 15, 2011.
2. Maas M, Poll LW, Terk MR. Imaging and quantifying skeletal
involvement in Gaucher disease. Br J Radiol. 2002;75 Suppl 1:A13-24.
3. Pastores GM, Hughes DA. Gaucher disease, in: Pagon RA, Bird TD,
Dolan CR, Stephens K, editors.GeneReviews [Internet]. Seattle (WA):
University of Washington, Seattle; 1993-2000 Jul 27 [updated 2011 Jul 21].
4. Kishnani PS, Grabowski GA, Mistry PK, et al. Skeletal and hematologic
pathology of type 1 Gaucher disease: Clinical impact of enzyme
replacement therapy withimiglucerase. CME activity, sponsored by
Duke University School of Medicine and Healthcare First. Released
January 1, 2008.
Indications and Usage
Cerezyme ® (imiglucerase for injection) is indicated for long-term enzyme replacement therapy for pediatric and adult patients with
a confirmed diagnosis of type 1 Gaucher disease that results in one or more of the following conditions: anemia (low red blood cell
count), thrombocytopenia (low blood platelet count), bone disease, hepatomegaly or splenomegaly (enlarged liver or spleen).
Important Safety Information
Approximately 15% of patients have developed immune responses (antibodies). These patients have a higher risk of an allergic
reaction (hypersensitivity). Use Cerezyme ® (imiglucerase for injection) carefully if you have had an allergic reaction to the
product in the past. Symptoms suggestive of allergic reaction happen in 6.6% of patients, and include anaphylactoid reaction (a
serious allergic reaction), itching, flushing, hives, an accumulation of fluid under the skin, chest discomfort, shortness of breath,
coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), and low blood pressure. Side effects related
to Cerezyme administration have been reported in less than 15% of patients. Each of the following events occurred in less
than 2% of the total patient population. Reported side effects include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue,
headache, fever, dizziness, chills, backache, and rapid heart rate. Because Cerezyme therapy is administered by intravenous
infusion, reactions at the site of injection may occur: discomfort, itching, burning, swelling or uninfected abscess. Cerezyme is
available by prescription only. For more information, consult your physician. To learn more, please see the enclosed full product
information or contact Genzyme at 1-800-745-4447 (option 2).
Please see accompanying full Prescribing Information on pages 11-12.
Please see accompanying full Prescribing Information.
Winter 2011/2012 / Horizons 19

3 2 1
You complete
the program
application
Your Genzyme
Case Manager
verifies eligibility
You’re enrolled
Genzyme Co-Pay Assistance Program
Cerezyme ® (imiglucerase for injection)
Get Started Today in
3 Easy Steps!
For more information about the program and to complete the online application, please visit:
www.cerezyme.com/copay.aspx
You can also call your Genzyme Case Manager directly to learn more
about the program and application process at 1-800-745-4447, Option 3
Your Genzyme Case Manager will review your application to verify eligibility.
If you are eligible, you will be automatically enrolled in the program.
Enrollment in the program is subject to confirmation of eligibility.
Once approved, you will receive confirmation from your Genzyme Case
Manager and an enrollment card will be mailed to you within 7-10 days.
Your doctor or specialty pharmacy will also receive a confirmation letter
with instructions on how to submit claims for reimbursement through the program.
For more
information about
the Genzyme Co-pay
Assistance Program,
please call your
Genzyme Case Manager
at 1-800-745-4447,
Option 3
Your enrollment in the program is effective from the date of approval through the end of 2012.
Genzyme reserves the right to make eligibility determinations, to set program benefit maximums, to monitor participation, and to modify or discontinue the program at any time.
For full Prescribing Information for Cerezyme ® (imiglucerase for injection) go to www.cerezyme.com
Genzyme Co-Pay Assistance Program
The Genzyme Co-Pay Assistance Program will help eligible individuals who are prescribed treatment with Cerezyme ® (imiglucerase for injection) with their
eligible drug related out-of-pocket expenses, including co-pays, co-insurance and deductibles, regardless of financial status.
Once enrolled in the Genzyme Co-Pay Assistance Program, Genzyme will pay 100% of your eligible out-of-pocket Cerezyme drug costs up to the program
maximum. The 2012 Co-Pay Program runs from January 1, 2012 through December 31, 2012.
Who is eligible for this program
Regardless of financial status, the program is
open to individuals who are:
• U.S. citizens or legal residents who
have primary commercial insurance
• Prescribed treatment with
Cerezyme ® (imiglucerase for injection)
Who is NOT eligible
As required by law, the program is not available to individuals who:
• Are residents of Massachusetts
• Have coverage or prescriptions paid for in part or full under any state or federally funded
healthcare program including:
- Medicare
- Medicare Advantage Plans
(Example: FreedomBlue offered
through Blue Cross Blue Shield)
- Medicaid
- Medigap
Please call your Case Manager if you have any questions about your eligibility. If you are not eligible for our Co-Pay
Assistance Program and need help with your out-of-pocket expenses, your Genzyme Case Manager is available to help
review your coverage options and refer you to other financial assistance programs that may offer financial support for
eligible individuals.
- Veterans Affairs, Department of Defense
or Tri Care
- High Risk Pool or Pre-existing
Condition Insurance
Plan (PCIP)
Genzyme reserves the right to make eligibility determinations, to set program benefit maximums, to monitor participation, and to modify or discontinue the program at any time.
This program assists patients with their out-of-pocket Cerezyme drug costs only, not the cost of infusions, medical evaluations/appointments, testing, or other related services.
For full Prescribing Information for Cerezyme ® (imiglucerase for injection) go to www.cerezyme.com
For more
information about
the Genzyme Co-pay
Assistance Program,
please call your
Genzyme Case Manager
at 1-800-745-4447,
Option 3
CZ-US-P409-12-11