MDF Magazine Newsletter Issue 56 August 2018

Up until a few years ago there was no known treatment
for spinal muscular atrophy, an autosomal recessive
degenerative neuromuscular genetic disorder, considered
the number one genetic cause of infant death. Individuals
affected by SMA are known to have an SMN1 gene
deletion, which is the gene responsible for producing
muscle building protein. Too little of this vital protein
results in early death of survival motor neurons, which
leads to muscle wastage or atrophy.
MD
SMA treatment could soon be accessible in
South Africa
By Tasnim Jadwat
Medical experts and researchers as well as motivated
families of individuals with SMA have worked
relentlessly in funding and identifying ways of
targeting the backup SMN2 gene to produce sufficient
protein for muscle development. The results have been
outstanding, with major pharmaceutical companies
applying for fast-tracked FDA approval in America. With
Spinraza being FDA approved, countries worldwide have
applied for accessibility to treatment.
Nusinersen or Spinraza is the only FDA approved
treatment for all types of spinal muscular atrophy and
may soon be made available in South Africa at a
negotiated cost. The drug, which received FDA approval
in December 2016, has shown promising results in
individuals affected by SMA who lack the SMN1 gene.
The costly drug has been labelled a miracle as it assists
in muscle development by targeting the SMN2 gene and
reversing symptoms in SMA patients.
Generally, the younger the individual diagnosed with
SMA is, the more severe is the condition, yet infants
have shown immense improvement in achieving
milestones when commencing the treatment as early as
possible. Older individuals are also showing favourable
results. There are 4 or 5 different forms of SMA,
varying according to severity of the condition, with type
0-1 being the most severe. Since SMA is a degenerative
condition, muscle wastage occurs with time, disabling
an individual and making them susceptible to respiratory
infections. In some of the severer forms, the ability to
swallow, talk and even smile is lost. A simple cold or flu,
if not treated in time and properly, can result in death.
The staggering price tag is expected to be negotiated
considering South Africa’s economic status. In America,
six treatments are administered in the first year at a cost
of $125 000 per dose, i.e. $750 000 in total. Every
subsequent year requires three doses of the drug
administered through a lumbar puncture. This excludes
administration, hospital and professional services costs.
Cure SMA South Africa needs your help!
Do you or someone you know have spinal
muscular atrophy?
We are looking for any person or persons affected by this
condition as Biogen’s breakthrough drug Spinraza might
soon be available in South Africa at a negotiated cost.
If you have answered “yes” to the above question, please
submit your details so that we can add you to our support
group and keep you informed with regard to obtaining
Spinraza.
Contact:
Tasnim Jadwat, Cure SMA South Africa
Mobile: 072 153 5953
Email: tassyjad@gmail.com
#CureSMA
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