Muscular Dystrophy

Tadalafil shows potential in addressing microvascular impairment in Duchenne muscular dystrophy, with post-contractile MRI as a screening tool.

In honor of Rare Disease Day, the vice president of public policy and advocacy at the Muscular Dystrophy Association shared his perspective of advocacy and policy progress in the realm of rare neuromuscular diseases. [WATCH TIME: 6 minutes]

PepGen has begun its phase 2 CONNECT1-EDO51 trial, dosing the first patient with PGN-EDO51, an agent for Duchenne muscular dystrophy amendable to an exon 51 skipping.

The professor in the Department of Translational Neuroscience at Barrow Neurological Institute provided comments on her session track at the upcoming 2024 MDA conference and some of the recent advancements in ALS research. [WATCH TIME: 4 minutes]

The FDA has accepted Sarepta Therapeutics' efficacy supplement for gene therapy SRP-9001, granting it a priority review for the treatment of Duchenne muscular dystrophy, with a decision expected by June 21, 2024.

The efficacy of vamorolone at a dose of 6 mg/kg/d was maintained over 48 weeks of treatment for all 5 motor outcomes.

The postdoctoral research fellow at Brigham and Women’s Hospital and Harvard Medical School discussed some of the issues with ensuring timely care access to approved therapies for patients with Duchenne muscular dystrophy. [WATCH TIME: 3 minutes]

Ahead of the 2024 MDA Conference, the medical advisor and care center director at Muscular Dystrophy Association talked about the track sessions he will be cochairing at the meeting. [WATCH TIME: 5 minutes]

The postdoctoral research fellow at Brigham and Women’s Hospital and Harvard Medical School provided answers to a recently published study highlighting the burden of care and infrequent use of novel exon-skipping drugs for Duchenne in clinical settings. [WATCH TIME: 3 minutes]

Despite conditional approval in Europe since 2014, ataluren's authorization has faced rejections and is still investigational in the US.

Despite initial enthusiasm, novel treatments for Duchenne muscular dystrophy face discontinuation challenges and lack long-term clinical efficacy data.

Over a 28-week treatment period, the investigational agent demonstrated significantly greater increase in dystrophin expression and exon skipping than previously approved eteplirsen, Sarepta’s first therapy for Duchenne muscular dystrophy.

After 6 months of treatment, once every 4-week administration of DYNE-251 reached levels of dystrophin expression, exon skipping, and percent dystrophin positive fibers that exceeded levels reported in a previous trial of eteplirsen, considered the standard of care.

Overall, investigators observed DMPK knockdown, consistent splicing correction, and meaningful function improvement in myotonia while on DYNE-101.

Assessments on PGN-EDODM1's safety, transcript splicing correction, and clinical outcome measures data at the 5 mg/kg dose level from trial is expected this year.

Steve Hughes, MD, chief medical officer at Avidity Biosciences, provided commentary on recently announced positive topline data for AOC 1044, an investigational agent for Duchenne muscular dystrophy.

AOC 1044 was well-tolerated in healthy volunteers, delivering dose-dependent increases in PMO concentrations in skeletal muscle following administration.

The positive data report could potentially build on phase 2 study of Duchenne muscular dystrophy in which CAP-1002 met its primary end point.

Pitolisant demonstrated a dose-dependent improvement in excessive daytime sleepiness and fatigue, with a safety profile that was consistent with previous studies. Additional data to be shared in early 2024.

Givinostat, a HDAC inhibitor, was supported by data from the phase 3 EPIDYS study, a randomized, double-blind, placebo-controlled, multicenter trial.

Despite additional information submitted, the FDA continues to impose a clinical hold on Entrada Therapeutics' ENTR-601-44 for the potential treatment of Duchenne muscular dystrophy.

Ahead of the 2024 MDA Conference, the vice president of public policy and advocacy at the Muscular Dystrophy Association talked about conference advocacy collaboration, access to treatments, and the state of healthcare. [WATCH TIME: 6 minutes]

The director of disability policy at the Muscular Dystrophy Association talked about the future possibility of having an aircraft that accommodates for patients with neuromuscular disorders who use mobility devices. [WATCH TIME: 3 minutes]

The director of disability policy at the Muscular Dystrophy Association discussed his lecture at AANEM 2023 on how clinicians can advocate for their patients to help improve accessibility and health equity. [WATCH TIME: 7 minutes] 

The assistant professor at Virginia Commonwealth University provided comment on her presentation from AANEM 2023, and the need to raise awareness towards nonneuromuscular symptoms of Duchenne muscular dystrophy. [WATCH TIME: 4 minutes]

With the FDA approval, vamorolone (Agamree) becomes the first-in-class dissociative steroid therapy for patients with Duchenne muscular dystrophy. Catalyst Pharmaceuticals plans to launch the treatment in the first quarter of 2024.

In preclinical data, treatment with PGN-EDODM reduced pathogenic nuclear foci by 54% per nuclei and liberated muscleblind like splicing regulator 1, resulting in a greater than 68% correction of downstream transcript missplicing events.

The chief medical officer at ML Bio Solutions, an affiliate of BridgeBio, talked about the significant progress of investigational agent BBP-418 to treat limb-girdle muscular dystrophy type 2I/R9. [WATCH TIME: 3 minutes]

Marketed as Elevidys, the gene therapy is approved for ambulatory pediatric patients aged 4 to 5 with Duchenne based on expression of micro-dystrophin.

At the 2023 MDA conference, the professor of neurology at the University of Minnesota talked about the current understanding and challenges of Limb Girdle muscular dystrophy from a clinical perspective. [WATCH TIME: 5 minutes]