Researchers at ML Bio Solutions are seeking individuals living with limb-girdle muscular dystrophy type 2I (LGMD2I, LGMD R9-FKRP-related) to participate in a 12-month natural history study. The objective of this observational study is to identify appropriate endpoints that will be used in the phase 3 clinical trial of BBP-418 (ribitol). Data gathered may include: Fine-needle muscle biopsy . . .
In 1996, MDA provided a small starter grant to Dr. Steve Wilton, a primary investigator at the University of Western Australia in Perth, for research into what scientists then thought was a radical process to address the effects of certain gene mutations. A quarter of a century later, this process — exon skipping — has . . .
On Oct. 27, Scholar Rock announced positive results from an interim analysis of its phase 2 clinical trial evaluating SRK-015, a therapy for treating spinal muscular atrophy (SMA). After six months of treatment with SRK-015, patients with SMA types 2 and 3 demonstrated significant motor function improvements, as measured by the Hammersmith scale, with higher dose . . .
Researchers at the University of Rochester in New York seek people diagnosed with Duchenne muscular dystrophy (DMD) who are interested in helping to develop disease-specific patient-reported outcome measures for future clinical trials. This survey will help to determine the most critical symptoms of children, young adults, and adults with DMD, and as a result, it . . .
On Oct. 16, Amylyx announced an update from its CENTAUR trial evaluating the effects of the investigational drug AMX0035 (a combination of the small molecules sodium phenylbutyrate and taurursodiol) on overall survival in people with amyotrophic lateral sclerosis (ALS). The current study followed each participant in the CENTAUR trial for up to three years from . . .
In order to make progress toward ensuring all future genetic counselors possess the necessary skills to improve the quality of services provided to families and individuals, researchers at the University of Texas Health Sciences Center in Houston are seeking participants for an online survey. Participants will be asked to share their opinion in order to help identify . . .
On Aug. 25, Sarepta Therapeutics announced that the US Food and Drug Administration (FDA) accepted the company’s New Drug Application (NDA) seeking accelerated approval for casimersen (SRP-4045), an investigational therapy for Duchenne muscular dystrophy (DMD) amenable to exon 45 skipping. The FDA has granted Sarepta’s application Priority Review Status, meaning that a decision is expected . . .
Today, the US Food and Drug Administration (FDA) granted accelerated approval to viltolarsen (Viltepso) for the treatment of Duchenne muscular dystrophy (DMD) in patients amenable to skipping exon 53. It is the third exon-skipping, disease-modifying drug to treat DMD, the most common childhood form of muscular dystrophy. The drug is administered by intravenous infusion. Viltepso will . . .
On Aug. 7, the US Food and Drug Administration (FDA) granted approval of risdiplam (Evrysdi) for the treatment of spinal muscular atrophy (SMA) in pediatric and adult patients. It is the third disease-modifying therapy approved to treat SMA, the leading genetic cause of infant death. The drug is an orally administered liquid, the first medicine that could . . .
On July 8, Biogen announced positive results from its phase 1/2 clinical trial of the investigational therapy tofersen (BIIB067) for treatment of amyotrophic lateral sclerosis (ALS) caused by mutation of the superoxide dismutase 1 gene (SOD1). The primary endpoints of the study — assessment of safety, tolerability, and drug dynamics in the body — demonstrated . . .
