Pre-symptomatic Infants Retain Swallowing Ability in Evrysdi Trial
After being treated with Evrysdi (risdiplam) for at least a year, pre-symptomatic infants with spinal muscular atrophy (SMA)…
Articles by Marisa Wexler, MS
Variant in Androgen Receptor Might Be Useful in Treating SBMA
A naturally occurring form of the androgen receptor protein — which scientists have named AR45 because of its…
SMA Caused by Mutation in ASAH1 Gene Reported in Romania
The first-ever case of someone in Romania with spinal muscular atrophy (SMA) caused by a mutation in the ASAH1…
FDA Lifts Hold on Clinical Trials of Intrathecal OAV-101
The U.S. Food and Drug Administration (FDA) has lifted its partial hold on clinical trials of OAV-101 (AVXS-101), an…
SMA Treatment May Be More Effective by Altering Underlying Molecule
Biochemical modifications made to antisense oligonucleotides — molecules that are the basis of an existing therapy for spinal muscular…
Rare 2030 Action Campaign Pushing for European Plan for Rare Diseases
Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for…
SMA Added to North Carolina’s Newborn Screening Program
Note: This story was updated on June 21, 2021, to clarify that these genetic tests are after a baby’s…
UK NICE Expands Access to Spinraza for SMA Type 3
A decision from England’s National Institute for Health and Care Excellence (NICE) will make Spinraza (nusinersen) available to people…
German Study Urges Newborn SMA Screening, Citing Better Outcomes
Newborn screening can aid in the early diagnosis and prompt treatment of spinal muscular atrophy (SMA), which can lead…
European Alliance Calls for Newborn Screening
The European Alliance for Newborn Screening for Spinal Muscular Atrophy is calling on all European states to introduce routine screening…