Solid Biosciences’ SGT-003 is the only late‑stage program to show early cardiac benefit across biomarkers and function, according to William Blair.

Original title: “Solid Adds to Differentiated Profile With New Data for Duchenne Gene Therapy”

The biopharma business model is misaligned with rare diseases, and children are paying the price. Home » Rare Diseases » Rethinking How Rare Disease Treatments Get to Patients ... The biopharma business model is misaligned with rare diseases, and children are paying the price. Recent policy and market changes have sparked a dramatic shift in investment toward therapies with broad commercial demand — leaving hundreds of rare disease programs shelved, often despite promising clinical data. Matthews is a testament to how awareness can inspire progress. “When I joined forces with CureDuchenne, this was a relatively unknown disease,” he says. “But we’re at the point now where there are human clinical trials, and the symptoms of this disease are being checked.” “There have been huge leaps forward in genetic medicines to treat rare diseases, but the business model to support their advancement hasn’t evolved at the same pace,” shared Craig Martin, who founded the Orphan Therapeutics Accelerator (OTXL) to reimagine how rare disease treatments are financed and advanced. As a nonprofit, OTXL can incentivize companies to donate programs and negotiate deferred or reduced development costs with industry partners. In partnership with the American Society for Gene and Cell Therapy, OTXL is also building an AI-powered marketplace to surface shelved assets and match them with aligned funders, opening the door to family offices, impact investors, and others historically excluded from this space. Clay Matthews, the Super Bowl-winning linebacker for the Green Bay Packers, became a part of the rare disease community almost by chance. His first exposure to Duchenne, a rare muscle degeneration disease that affects boys, was for a CureDuchenne PSA that he lent his likeness to.

Original title: “Rethinking How Rare Disease Treatments Get to Patients - Future of Personal Health”

Data presented at the 2026 Muscular Dystrophy Association meeting could have readthroughs to companies developing therapies for spinal muscular atrophy, Duchenne muscular dystrophy and Becker muscular dystrophy.

Original title: “MDA 2026: Biogen, Sarepta, Edgewise Address Muscle Disorders”

Capricor Therapeutics’ deramiocel was rejected in July 2025, potentially caught between Nicole Verdun, a former top biologics regulator at the FDA, and Vinay Prasad, director of the Center for Biologics Evaluation and Research.

Original title: “Capricor Shares Rise as FDA Lifts Duchenne Cell Therapy Rejection”

Xenon shares skyrocketed nearly 50% on results that handily beat Wall Street expectations. Elsewhere, Capricor got a decision date for a spurned cell therapy and AbbVie and Regeneron showcased obesity data.

Original title: “Xenon hits a ‘home run’ in epilepsy; FDA restarts review of Duchenne cell therapy”

Dyne Therapeutics is plotting an approval application for z-rostudirsen in the back half of 2026—a push that will only be bolstered by the departure of controversial CBER chief Vinay Prasad, according to analysts at Stifel.

Original title: “Dyne Plans Post-Prasad FDA Run as Duchenne Exon Skipper Sustains Benefit in Long Term Data”

Discover how the UAE is leading the way in precision medicine, offering hope to rare disease patients through advanced genomics and personalized care. Learn about the transformative impact of early genomic screening and targeted therapies. In disorders such as spinal muscular atrophy or duchenne muscular dystrophy, therapies like gene replacement, exon-skipping, and molecular modulation are designed to correct or compensate for specific genetic defects. Without precise genetic characterisation, these treatments cannot be appropriately offered,” Dr. Vivek Mundada, consultant paediatric neurology at Medcare Royal Speciality Hospital, told Gulf News. “Moreover, rare diseases frequently involve multiple organ systems. One of the most significant findings in rare disease care has been the growing accessibility of early genomic screening. Advanced sequencing technologies can now analyse vast portions of the genome in a matter of days, a process that once took years. “Early genomic screening is also transforming patient journeys. Instead of years of sequential testing, whole-exome or whole-genome sequencing can provide answers early in life. When genomic data is integrated with clinical records, imaging, and digital pathology, diagnostic time is significantly reduced. Meanwhile, health experts have highlighted the UAE’s role as a regional leader in advanced healthcare, especially in genetics and rare diseases. According to Mundada, “What distinguishes the UAE is its ability to scale innovation quickly. When supported by structured policy and digital integration, precision medicine does not remain confined to academic centres, it becomes part of national healthcare delivery.” · “The UAE is demonstrating how personalised medicine can move from concept to clinical reality, particularly for patients living with rare diseases,” added Thomas. By analysing a patient’s genetic makeup, doctors can determine the underlying cause of a condition more accurately and, in some cases, identify targeted therapies. “Precision medicine allows us to move beyond symptom-based treatment to gene-level diagnosis and targeted intervention.

Original title: “How precision medicine revolutionises rare disease treatment in UAE”

FDA delays treatments for rare diseases, risking lives of children with conditions like DMD and ALS. Trump signed the Right to Try Act in 2018, which allows those with life-threatening diseases or conditions to access experimental drugs that have completed at least Phase 1 clinical trials but have not yet received full FDA approval. There is bipartisan support to speed up this process; Sen. Kirsten Gillibrand (D-NY) sounded as concerned as the Republican members of the committee. ... Maybe U.S. Secretary of Health and Human Services Robert F. Kennedy Jr., who has pushed for faster drug approvals in areas like rare diseases, can apply some pressure. Campbell offered several solutions, and urged Congress to pass the Biomanufacturing Excellence Act of 2025 (H.R. 6089 and S. 3188), which will “advance manufacturing methods to ensure innovative products can move rapidly from clinical to commercial scale.” · Cara O’Neill, Chief Science Officer & Co-Founder of Cure Sanfilippo Foundation and the mother of a 16-year-old daughter with Sanfilippo Syndrome, told the committee how she watched a young girl die of the disease, which is a form of childhood dementia. However, her own daughter was able to receive treatment during a trial and is thriving. Angelina Olivera, the mother of a 14-year-old son who has DMD, who also watched her brothers die at ages 20 and 22 of the disease, told me there is only one promising new treatment for DMD but the FDA won’t approve it for her son Ryu. A study was conducted on 1,200 patients using Elevidys from Sarepta Therapeutics and revealed promising results. The gene therapy slowed disease progression by 70-73 percent compared to untreated children. Elevidys was approved for a few types of patients, but since a couple of patients in the trial treatment died of acute liver failure afterwards, the FDA halted access to those in wheelchairs like her son, who lost his ability to walk at age 9. Sarepta Therapeutics said those severe outcomes were not the result of the treatment. The two DMD patients who died were in advanced stages, and a third fatality occurred in a separate trial of a higher-dose gene therapy for a different muscle disease.

Original title: “FDA Cruelly Holding Up Approval of Treatments for Rare Diseases, Despite Children Likely to Die Soon”

After a rocky 2025, Sarepta Therapeutics’ executives admit they have work to do to bring patients back into the fold as sales of Duchenne muscular dystrophy gene therapy Elevidys continue to decline.

Original title: “After Sarepta’s Annus Horribilis, Elevidys Sales Expected To Continue Downward Spiral”

Sarepta to present new long-term ... slowing disease progression and supporting informed treatment decisions. ... U.S. Recommended Uniform Screening Panel (RUSP): The inclusion of Duchenne on the RUSP represents a pivotal advancement for the Duchenne community, encouraging broader newborn screening at the state level and empowering more families with early diagnosis and timely information to pursue earlier care, including access to available therapies and clinical trials... Sarepta to present new long-term and safety data across gene therapy and exon-skipping programs at 2026 Muscular Dystrophy Association Clinical & Scientific Conference: Sarepta will present new clinical and real‑world evidence at MDA 2026 showing long‑term efficacy, safety, and caregiver‑reported impact of its gene therapy and exon‑skipping treatments for Duchenne muscular dystrophy, reinforcing dystrophin’s role in slowing disease progression and supporting informed treatment decisions. ... U.S. Recommended Uniform Screening Panel (RUSP): The inclusion of Duchenne on the RUSP represents a pivotal advancement for the Duchenne community, encouraging broader newborn screening at the state level and empowering more families with early diagnosis and timely information to pursue earlier care, including access to available therapies and clinical trials. Net product revenue reached $1.86B in 2025 as Sarepta posted a $713M GAAP net loss but exited the year with $954M cash and expects 2026 profitability. At the same time, our PMO exon-skipping therapies continue to demonstrate durable clinical value, exceptional safety, extraordinary real‑world outcomes, and unwavering support from families and physicians. Finally, with five clinical‑stage RNAi programs and multiple readouts ahead, we are poised for meaningful growth while advancing therapies that can profoundly change the lives of patients living with rare disease.” Feb 4, 2026 Sarepta Therapeutics Announces Approval of Clinical Trial Application for SRP-1005, Its Investigational Treatment for Huntington’s Disease

Original title: “Inside Sarepta’s tumultuous $2.2B year in Duchenne gene therapy”

The “Omirge Sen” Foundation was established to support families whose members suffer from hereditary neuromuscular diseases, including myopathies (Duchenne/Becker), spinal muscular atrophy (SMA), congenital myasthenia,… Continue reading Stories of Our Little Heroes The “Omirge Sen” Foundation was established to support families whose members suffer from hereditary neuromuscular diseases, including myopathies (Duchenne/Becker), spinal muscular atrophy (SMA), congenital myasthenia, Charcot-Marie syndrome, and others. This video was filmed featuring our beneficiaries for Rare Disease Day to raise awareness of Duchenne muscular dystrophy.

Original title: “Stories of Our Little Heroes - Rare Disease Day 2026”

The “Omirge Sen” Foundation was established to support families whose members suffer from hereditary neuromuscular diseases, including myopathies (Duchenne/Becker), spinal muscular atrophy (SMA), congenital myasthenia,… Continue reading Story of our little heroes The “Omirge Sen” Foundation was established to support families whose members suffer from hereditary neuromuscular diseases, including myopathies (Duchenne/Becker), spinal muscular atrophy (SMA), congenital myasthenia, Charcot-Marie syndrome, and others. This video was filmed featuring our beneficiaries for Rare Disease Day to raise awareness of Duchenne muscular dystrophy.

Original title: “Story of our little heroes - Rare Disease Day 2026”

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”