News

Prenatal enrollment of newborns for spinal muscular atrophy (SMA) screening leads to faster results than recruitment after birth, according to findings from an Early Check pilot study in North Carolina. While most results were obtained within a timeframe that would allow treatment to begin before symptom onset — key to…

Poorer oxygen update in muscle cells and greater fatigue was evident among ambulatory spinal muscular atrophy (SMA) patients relative to healthy people in an exercise-based study, suggesting that problems in cell energy production play a role in this disease. A better understanding of…

Abnormal increases in liver enzymes levels — suggestive of liver damage — and drops in platelet counts are common among spinal muscular atrophy (SMA) patients over 8 months old following treatment with Zolgensma, according to a small real-world study in Germany. These side effects, which can be severe in some…

Evrysdi (risdiplam) continues to improve survival and to allow infants with spinal muscular atrophy (SMA) type 1 to achieve key motor milestones, according to two-year data from the second part of the FIREFISH trial. “It is encouraging to see that infants continued to improve after 12 months of treatment, with twice as many…

Apitegromab, Scholar Rock’s muscle-directed therapy for spinal muscular atrophy (SMA), safely and effectively improved or stabilized motor function in children and young adults with types 2 and 3 disease over one year, top-line data from the Phase 2 TOPAZ trial show. Notably, patients’ motor gains were either maintained or increased at…

The European Alliance for Newborn Screening for Spinal Muscular Atrophy is calling on all European states to introduce routine screening of all newborns for spinal muscular atrophy (SMA) by 2025. The recently-formed Alliance, which is composed of European patient organizations, academics, and the pharmaceutical industry, published its first white…

Scientists have revealed the structural architecture of the SMN complex, which is altered in people with spinal muscular atrophy (SMA) due to a deficiency in the SMN protein. Their findings showed that many of the mutations that cause SMA are part of the central core of the SMN…

Treatment with Spinraza (nusinersen) may cause some alterations in the cerebrospinal fluid — that which surrounds the brain and spinal cord — in adults with spinal muscular atrophy (SMA), a study reported. Changes recorded, like in total protein, were “mild” and without affect on treatment tolerability, the researchers wrote,…

The European Commission has approved Evrysdi (risdiplam) as the first oral and at-home treatment for adults, children, and infants 2 months and older with nearly all types of spinal muscular atrophy (SMA). Eligible patients include those with a clinical diagnosis of SMA type 1, 2, or 3 or carrying one to four…

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…