News

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…

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…

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…

Swelling in the lower extremities is a common occurrence in people who are diagnosed with SMA, secondary to different reasons. Some reasons include lack of muscle contraction and the ability to pump fluid out of their feet, as well as positional limitations during the day as most are in a…

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…

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…