MDF Magazine Issue 61 April 2020 (2)

MD
Top 10 Muscular Dystrophy
Stories of 2019
By Joana Carvalho
Originally published online by
Muscular Dystrophy News Today, 3 January 2020
Throughout 2019, Muscular Dystrophy News Today brought you daily coverage of important discoveries, treatment
developments, clinical trials, and other important events related to muscular dystrophy.
As we look forward to bringing you more news this year, we present the 10 most-read stories of 2019.
No. 10 – “Sarepta Acquires Rights to Novel
Gene Therapy Candidate to Treat Limb-Girdle
MD”
In May, Muscular Dystrophy News Today reported Sarepta
Therapeutics’ acquisition of an investigational gene therapy
program focused on calpain-3 for the treatment of limb-girdle
muscular dystrophy type 2A (LGMD2A). Calpain-3 is
an enzyme that does not work properly in people with LG-
MD2A, leading to the accumulation of toxic waste proteins
within skeletal muscles, which ultimately compromises their
function. The calpain-3 gene therapy program uses a rhesus
monkey-derived viral vector to deliver a functional copy of
the calpain-3 gene (CAPN-3) to the patients’ skeletal muscles,
with the intention of preventing further deterioration.
This program was originally developed by the Research Institute
at Nationwide Children’s Hospital.
No. 9 – “Physical Therapy Essential for Duchenne
Boys if Given with Care, Expert Says”
In August, Muscular Dystrophy News Today interviewed
Claudia Senesac, PhD, a physical therapist who has been
working with boys with Duchenne muscular dystrophy
(DMD) for nearly 40 years, to discuss the benefits and importance
of physical therapy for DMD. Senesac noted the
importance of being reasonable about the amount, intensity,
and type of exercises that boys with DMD should perform
to slow muscle degeneration. She said that stretching exercises,
swimming, and night splints (braces worn overnight)
are particularly helpful to improve range of motion, and recommended
that parents look for physical therapists who are
experienced in working with children with DMD.
No. 8 – “Gene Therapy SRP-9003 Showing
‘Very Encouraging’ Results at 9 Months in
Limb Girdle MD, Sarepta Reports”
We covered the release in October of new nine-month data
from a Phase 1/2 trial (NCT03652259) investigating the
safety, tolerability, and efficacy of SRP-9003 (MYO-101), a
form of gene therapy developed by Sarepta Therapeutics, in
children with limb girdle muscular dystrophy type 2E (LG-
MD2E). SRP-9003 uses a viral vector to deliver a functional
copy of the beta-sarcoglycan gene (SGCB), which is defective
in people with LGMD2E, directly to their muscles to
halt and possibly reverse the symptoms of the disease. Ninemonth
data from the study showed that a single administration
of SRP-9003 at a low dose of 5×1013 vg/kg reduced
the levels of creatine kinase (a marker of muscle damage)
by 82%, and led to significant improvements in several functional
measures in three children with LGMD2E who were
part of the study’s first patient group. Sarepta is planning to
test a higher dose of SRP-9003 in the second cohort of patients
participating in the trial. The study is expected to enroll
a total of nine children with LGMD2E, ages 4 to 15, and to
conclude on Dec. 31, 2020.
No. 7 – “Gene Therapy SGT-001 Shows Signs of
Microdystrophin Production in Muscles of Boys
in IGNITE DMD Trial”
In February, we covered preliminary data from a Phase 1/2
trial (NCT03368742) investigating the safety, tolerability
and efficacy of the experimental gene therapy SGT-001 in
children and teenagers with DMD. SGT-001, developed by
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