What Is Spinal Muscular Atrophy?

Spinal muscular atrophy (SMA) is a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle). It affects 1 per 8,000 to 10,000 people worldwide.

Children with SMA might develop a curved spine. In severe cases, a child might not be able to stand or walk and may need assistance to eat and breathe.

There is a gene called SM1 that produces SMN protein. When this gene is deleted or mutated, the person could not make enough SMN protein. This causes SMA as the brain fails to control voluntary movements.

How Could Risdiplam Save Kids From SMA?

A gene called SMN2 can produce small amounts of SMN protein. Risdiplam is an oral medication which is capable of inducing SMN2 gene transcription. This helps the body to produce SMN protein even if the SMN1 gene causes issues.

The current study is an open-label trial that enrolled 41 infants. The subjects who received risdiplam showed improvements in motor function.

In comparison with the participants who did not receive the drug, these children achieved other motor milestones. The life expectancy of these children also increased after risdiplam treatment.

“By the time an infant with SMA-1 comes to me, they have already lost 50 percent or more of their motor neurons. If we can find them before they become symptomatic, we can begin drug treatment very early and make a real difference for these children quite often by preventing the disease,” explained Darras, the co-founder of the Pediatric Neuromuscular Clinical Research Network (PNCRN) for SMA.

Source: Medindia