News

Treatment with the molecule 4-aminopyridine (4-AP) failed to improve the motor function, endurance, and muscle strength of spinal muscular atrophy (SMA) type 3 patients who are able to walk, according to results from a small Phase 2/3 clinical trial.  Findings from the trial…

Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest…

The EONIS system, a screening assay capable of simultaneously testing newborns for three genetic conditions, including spinal muscular atrophy (SMA), has received a CE marking from the European Commission for an in vitro device. The approval will allow its developer, PerkinElmer, to make the EONIS…

Treatment with the molecule 4-aminopyridine (4-AP) failed to improve the motor function, endurance, and muscle strength of spinal muscular atrophy (SMA) type 3 patients who are able to walk, according to results from a small Phase 2/3 clinical trial.  Findings from the…

Infants with spinal muscular atrophy (SMA)  type 1 who received a single infusion of Zolgensma continue to achieve developmental milestones and show improvements in motor function, according to interim data from the Phase 3 STR1VE-EU trial.  Importantly, these improvements were also seen in infants with more severe forms…

The U.S. Food and Drug Administration (FDA) has granted the designation of rare pediatric disease to SRK-015, an investigational treatment for spinal muscular atrophy (SMA), its developer, Scholar Rock, announced. This designation is given to therapies that are intended to treat serious or life-threatening disorders…

Infants with spinal muscular atrophy (SMA) type 1 receiving the therapeutic dose of Evrysdi (risdiplam) continue to improve and achieve motor milestones, according to two-year data from the first part of the Phase 2/3 FIREFISH clinical trial. Updated data from FIREFISH (NCT02913482) showed that nearly…

It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism.   “The…

Increasing the levels of brain-derived neurotrophic factor (BDNF) — a molecule involved in the communication between nerve cells and muscle — specifically in muscle delayed symptom onset and slowed disease progression in a mouse model of spinal and bulbar muscular atrophy (SBMA), a study has found. BDNF’s benefits…

Novartis will open a new clinical trial investigating Zolgensma, given via an injection directly into the spinal canal, after the U.S. Food and Drug Administration (FDA) recommended a “pivotal confirmatory study” into the gene therapy’s use in older spinal muscular atrophy (SMA) patients. Findings from this…