SWITZERLAND – Pharmaceutical giant, Roche have launched a prescription medicine Evrysdi in India, which is used for treatment of spinal muscular atrophy (SMA) in adults, children aged 2 months and older.
Evrysdi was first approved by the United States Food and Drug Administration (US FDA) in August 2020 and is now available in India within 11 months of the US approval.
Since its launch, over 4,000 SMA patients across over 50 countries have benefited from the drug, this is according to Roche.
Roche has also had its data related to Evrysdi study published in the New England Journal of Medicine (NEJM) under the FIREFISH Part 2 global study.
The study was evaluating the efficacy and safety of Evrysdi (risdiplam) in babies aged 1-7 months old with symptomatic Type 1 spinal muscular atrophy (SMA).
Results posted showed that the study met its primary endpoint with 29% of infants (12/41) sitting without support for at least five seconds by month 12, a milestone not seen in the natural course of the disease.
Spinal muscular atrophy (SMA) is a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement.
Most of the nerve cells that control muscles are located in the spinal cord, which accounts for the word spinal in the name of the disease.
SMA is muscular because its primary effect is on muscles, which don’t receive signals from these nerve cells. Atrophy is the medical term for getting smaller, which is what generally happens to muscles when they’re not stimulated by nerve cells.
In the most common form of SMA (chromosome 5 SMA, or SMN-related SMA), there is wide variability in age of onset, symptoms, and rate of progression.
Chromosome 5 SMA is caused by a deficiency of a motor neuron protein called SMN, for “survival of motor neuron.” This protein, as its name implies, seems to be necessary for normal motor neuron function.
SMN plays a pivotal role in gene expression in motor neurons. Its deficiency is caused by genetic flaws (mutations) on chromosome 5 in a gene called SMN1.
The most common mutation in the SMN1 gene within patients diagnosed with SMA is a deletion of a whole segment, called exon 7.
Neighboring SMN2 genes can in part compensate for nonfunctional SMN1 genes as there is 99% identity between these two genes.
The primary symptom of chromosome 5-related (SMN-related) SMA is weakness of the voluntary muscles.
Muscles most affected are those closest to the center of the body, such as those of the shoulders, hips, thighs, and upper back.
The lower limbs seem to be affected more than the upper limbs, and deep tendon reflexes are decreased.
Special complications occur if the muscles used for breathing and swallowing are affected, resulting in abnormalities in these functions. If the muscles of the back weaken, spinal curvatures can develop.
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