Novartis will initiate SMART, a Phase 3b clinical study to evaluate the safety and efficacy of the one-time gene therapy Zolgensma(onasemnogene abeparvovec) in young children with spinal muscular atrophy (SMA) who weigh 8.5 to 21 kilograms (about 18 to 46 pounds). Zolgensma is approved in the U.S.
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Ayah Lundt, a 15-month-old Danish girl with spinal muscular atrophy (SMA) type 2, is helping bring the world together as her parents race to raise $2.4 million for a single dose of Zolgensma before she…
Zolgensma may result in faster and greater functional improvements than Spinraza (nusinersen) in infants with spinal muscular atrophy (SMA) treated up to 2 years of age, according to a survey of 22 health providers in the U.S. Given the survey’s limitations, such as its small sample and subjective…
More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…
Higher blood levels of phosphorylated neurofilament heavy chain (pNF-H) — a marker of nerve cell damage — before beginning Spinraza (nusinersen) treatment are associated with greater motor improvements in children with spinal muscular atrophy (SMA) types 2 or 3. Notably, this association increased over time, reaching statistical significance at about…
The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…
Evrysdi (risdiplam) has been approved by Health Canada for the at-home treatment of spinal muscular atrophy (SMA) in people ages 2 months and older. “The Health Canada approval of Evrysdi is a welcome addition in our ability to treat SMA. It is an efficacious treatment that significantly increases…
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 the…
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…
