clinical diagnosis and genetic analysis of a rare case of duchenne muscular dystrophy and spinal muscular atrophy

Original title: “Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy.”

With a clutch of key data and planned regulatory applications this year from Avidity Biosciences, REGENXBIO and Capricor Therapeutics, CureDuchenne CSO Michael Kelly sees “momentum” in the Duchenne muscular dystrophy pipeline, as Sarepta’s Elevidys leaves the door open.

Original title: “Following Sarepta Woes, Others Look To Unlock the Next Chapter in DMD Treatment”

The EU-funded DREAMS project welcomes University College London to its consortium to help fast-track new therapies for patients suffering... The EU-funded DREAMS project welcomes University College London to its consortium to help fast-track new therapies for patients suffering from rare neuromuscular disorders. ... Since its launch in 2023, the EU-funded DREAMS(opens in new window) project has been working on cutting-edge methods and tools that will be used to find new treatments for rare neuromuscular disorders with no known cure. Additionally, the rarity of these conditions hampers clinical research and drug development, leaving many patients without approved therapies. DREAMS is addressing these challenges by combining AI-based drug discovery, stem cell data and advanced phenotypic screening to speed up the discovery of promising therapeutic candidates. Its focus is on five rare neuromuscular diseases: centronuclear myopathy, Duchenne muscular dystrophy, Emery-Dreifuss muscular dystrophy type 2, Pompe disease and Danon disease. Further contributions include its specialised assays to test drug efficacy and mechanisms of action, and its deep clinical and scientific knowledge of neuromuscular disorders. These all strengthen DREAMS’ capacity to identify shared disease mechanisms and translate findings to new therapies. “We are delighted that UCL is joining the DREAMS consortium to advance research into rare neuromuscular disorders,” remark UCL researchers Francesco Saverio Tedesco and Sara Benedetti in a news item(opens in new window) posted on the project website. Permalink: https://cordis.europa.eu/article/id/463169-accelerating-discovery-of-novel-treatments-for-rare-diseases

Original title: “Accelerating discovery of novel treatments for rare diseases | News | CORDIS | European Commission”

The post 23rd International Conference on Duchenne and Becker Muscular Dystrophy appeared first on EURORDIS-Rare Diseases Europe.

Original title: “23rd International Conference on Duchenne and Becker Muscular Dystrophy”

After a spate of patient deaths in 2025 linked to the company’s Duchenne gene therapy, Sarepta shared new data showing benefits of the therapy three years after dosing. In an investor call to discuss the second mortality, CEO Doug Ingram insisted that “liver injury is a known risk of AAV therapies.” · Still, the deaths ushered in months of regulatory difficulties and business realignment efforts for Sarepta. In July 2025, the biotech laid off around 500 employees in a pivot that included moving away from gene therapies and leaning into its siRNA pipeline. The benefits of taking Elevidys, Sarepta Therapeutics’ gene therapy for Duchenne muscular dystrophy, continue three years post treatment, the company said Monday. Monday’s readout comes after a tumultuous 2025 for Elevidys. In March, the gene therapy was implicated in the death of a young boy with DMD who developed acute liver injury leading to liver failure. Get daily news updates when you subscribe to GenePool!

Original title: “Sarepta’s DMD Gene Therapy Staves Off Disease Three Years After Treatment - BioSpace”

In the middle of 2026, the company is planning to submit a BLA for RGX-202 via an accelerated approval pathway. Among 4 patients treated with the pivotal dose of Regenxbio’s RGX-202, an investigational adeno-associated virus (AAV) vector–based gene therapy intended to treat Duchenne muscular dystrophy (DMD), in the phase 1/2 portion of the AFFINITY DUCHENNE clinical trial (NCT05693142), all 4 surpassed expected disease trajectory on the North Star Ambulatory Assessment (NSAA) with utilization of the Collaborative Trajectory Analysis Project (cTAP) disease progression model at 18 months post treatment.1 RGX-202 gene therapy for DMD showed significant improvement in patient outcomes, surpassing expected disease progression at 12 and 18 months post treatment. In addition to RGX-202, one of Regenxbio’s other lead programs is clemidsogene lanparvovec (RGX-121), an investigational AAV vector–based gene therapy for mucopolysaccharidosis type 2 (MPS II, also known as Hunter syndrome).2 RGX-121 is currently being evaluated in the pivotal phase 1/2/3 CAMPSIITE clinical trial (NCT03566043). "2026 is set to be a transformative year for Regenxbio, as we enter commercial stage with two near-term catalysts from our three late-stage assets and a clear path to sustained growth," Curran Simpson, president and CEO of Regenxbio, said in a statement.1 "We are starting the year with exciting new long-term data for our Duchenne program, demonstrating how our comprehensive strategy to maximize the potential for therapeutic benefit across all our programs is resulting in positive outcomes for patients. We are continuing to set the bar high for how potentially life-changing gene therapies are discovered, developed, and manufactured; this year we are sharply focused on advancing our commercial readiness to enable successful launches of these medicines for patients in need.”

Original title: “Patients Treated With Regenxbio’s DMD Gene Therapy RGX-202 Exceed Expected Disease Trajectory on NSAA | NeurologyLive - Clinical Neurology News and Neurology Expert Insights”

HRSA published a Federal Register notice on August 14, 2025 (90 FR 39197), requesting comments from the public on the potential recommendation of adding Duchenne Muscular Dystrophy (DMD) to the Recommended Uniform Screening Panel (RUSP). After consideration of public comments and evidence-based reports, HRSA recommended to the HHS Secretary that DMD be added to the RUSP. The Secretary has accepted the recommendation as detailed in this notice. Conditions listed on the RUSP are part of the eviden

Original title: “Addition of Duchenne Muscular Dystrophy to the Recommended Uniform Screening Panel”

The National Organization for Rare Disorders (NORD) applauds the Department of Health and Human Services (HHS) for adding metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy (DMD) to the Recommended Uniform … Continue reading "NORD CEO Statement on the Addition of Metachromatic Leukodystrophy (MLD) and Duchenne Muscular Dystrophy (DMD) to the Recommended Uniform Screening Panel"

Original title: “NORD CEO Statement on the Addition of Metachromatic Leukodystrophy (MLD) and Duchenne Muscular Dystrophy (DMD) to the Recommended Uniform Screening Panel”

The U.S. Department of Health and Human Services has added Duchenne muscular dystrophy and Metachromatic Leukodystrophy (MLD) to the federal Recommended Uniform Screening Panel (RUSP)! The RUSP is a list of disorders […] The post HHS Adds Duchenne Muscular Dystrophy and MLD to the Federal Recommended Uniform Screening Panel (RUSP) appeared first on EveryLife Foundation for Rare Diseases.

Original title: “HHS Adds Duchenne Muscular Dystrophy and MLD to the Federal Recommended Uniform Screening Panel (RUSP)”