Spinal Muscular Atrophy

SMA, a rare genetic neurodegenerative disorder affecting approximately 1 in 10,000 newborns, is typically fatal for untreated children by age two. However, the approval of disease-modifying medications have transformed the treatment landscape.

Risdiplam is an oral small molecule treatment that impacts both the central nervous system and peripheral tissues. Patients receive the medicine daily in liquid form either by feeding tube or by mouth. The drug was first approved by the FDA in 2020 for patients as young as two-months old.

According to a study published in JAMA Pediatrics, screening newborns for spinal muscular atrophy (SMA) and starting treatment immediately can significantly improve health outcomes compared to infants who are diagnosed and begin treatment months later.

Early treatment helps improve the efficacy of treatment of spinal muscular atrophy, according to a comprehensive review article published earlier this month.

In this diagnostic proof-of-concept trial, an emerging imaging approach that uses a handheld laser demonstrated the ability to visualize muscle degeneration in children with SMA.

A new study suggests clinicians might be able to use metabolic “fingerprints” to better understand the likely severity of individual cases.

Investigators in Japan have developed a new, noninvasive method for screening for spinal muscular atrophy using saliva analyzed with conventional PCR as an alternative to blood-based genetic screening.

This European study enrolled patients with more severe cases of spinal muscular atrophy than a similar study conducted in the U.S.

A new method for delivering this treatment drug for spinal muscular atrophy offers an option for patients with advanced cases of the disease. But investigators found that the new method may also carry risks of mechanical failure and infection.

Small biotech companies such as Scholar Rock and Cytokinetics have treatments in late-stage trials for spinal muscular atrophy. Novartis and Biogen also have products in the pipeline.

The FDA has approved three targeted therapies for spinal muscular atrophy. They have hefty price tags so cost and affordability are live topics.

The phase 2 TOPAZ trial demonstrated treatment is safe and improves motor function in patients with SMA.

Patients treated with risdiplam at 12 months demonstrated significant improvement in survival and developmental milestones, with 19 of 21 (90%) infants able to survive without permanent ventilation and 7 (41%) infants able to sit without support for at least 5 seconds.

Adaptive Biotechnologies’ clonoSEQ gets third approval; FDA also acts on first at-home treatment for spinal muscular atrophy.