Latest Conference Coverage

Celebrating Milestones and Tackling New Frontiers in Pompe Disease: Priya Kishnani, MD

The professor of pediatrics and division chief of Medical Genetics at Duke University gave clinical insight on a presentation on the advancements and limitations of enzyme replacement therapy for Pompe Disease. [WATCH TIME: 3 minutes]

Episode 137: Advancing Neuromuscular Care and Research

Mind Moments®, a podcast from NeurologyLive®, brings you an exclusive interview with Robert Califf, MD. [LISTEN TIME: 9 minutes]

Gene Therapy RGX-202 Shows Positive Interim Results in Duchenne Muscular Dystrophy Trial

New biomarker data presented at the 2025 Muscular Dystrophy Association Clinical & Scientific Conference of RGX-202 in the phase 1/2 trial highlight strong microdystrophin expression.

Using Baseline Paramagnetic Rim Lesion Count as Prognostic and Treatment Biomarkers in Multiple Sclerosis: Jiwon Oh, MD, PhD

The medical director of the Barlo Multiple Sclerosis Program at St Michaels Hospital discussed findings from phase 3 trials suggesting that baseline PRLs can predict disability accumulation and may serve as biomarkers for treatment response to tolebrutinib. [WATCH TIME: 6 minutes]

Givinostat Delays Duchenne Muscular Dystrophy Progression by 2 Years, Simulation Model Shows

A new analysis reported that givinostat, an oral histone deacetylase inhibitor recently approved for DMD, slowed disease progression by approximately 2 years compared with standard care.

Critical Lessons From Emergence of Enzyme Replacement Therapies in Pompe Disease: Priya Kishnani, MD

The professor of pediatrics and division chief of Medical Genetics at Duke University delved into the transformative impact of enzyme replacement therapy on Pompe disease, addressing its advancements, limitations, and promising innovations shaping its future. [WATCH TIME: 2 minutes]

Breaking Barriers: Donovan Decker’s Journey in Gene Therapy and Advocacy for LGMD

Donovan Decker, recipient of the 2025 MDA Legacy Award for Community Impact and Research, shared his powerful journey as a patient advocate and gene therapy pioneer, shedding light on the challenges and progress in LGMD.

Investigational Vatiquinone Slows Friedreich Ataxia Disease Progression Relative to FACOMS Natural History Cohort

Two separate long-term extension studies met their pre-specified endpoints, showing highly significant evidence of sustained treatment benefits in slowing disease progression in pediatric and adult patients.

SHIELD-DMD to Evaluate Therapeutic Potential of IL-6 Receptor Satralizumab in Duchenne Muscular Dystrophy

The design of a phase 2 trial to investigate the potential of satralizumab in boys with Duchenne muscular dystrophy was recently presented at the 2025 MDA Clinical & Scientific Conference.

Intrathecal Onasemnogene Abeparvovec Demonstrates Favorable Safety and Motor Function Stabilization in Treatment-Experienced Patients With SMA

The phase 3b STRENGTH study reported that a single dose of OAV101IT was well tolerated in treatment-experienced patients with spinal muscular atrophy, with motor function stabilizing over 52 weeks.

Long-Term Data Reinforces Safety of Gene Therapy Zolgensma for Spinal Muscular Atrophy

Real-world findings from the RESTORE registry presented at the 2025 MDA conference confirmed the established safety profile of onasemnogene abeparvovec over a 5-year period.

SAT-3247 and Restoring Muscle Regeneration in Duchenne Muscular Dystrophy: Phil Lambert, PhD

The chief scientific officer at Satellos Bioscience gave clinical insight on a new novel treatment and its mechanism of action in treating Duchenne muscular dystrophy. [WATCH TIME: 5 minutes]

NeuroVoices: Lily Sander on Advocacy, Community, and Raising Awareness for Charcot-Marie-Tooth Disease

Patient advocate and MDA Ambassador Lily Sander shared inspiring perspective on Charcot-Marie-Tooth disease, advocacy efforts, and the importance of connection

Early Trial Data Highlights Potential of Gene Therapy GNT0004 for Duchenne Muscular Dystrophy

Long-term follow-up data from an early-phase study of an AAV8-based gene therapy for DMD suggest the treatment was well-tolerated and provided sustained biochemical and functional benefits.

Mechanism and Promise Behind Del-Zota for Duchenne Muscular Dystrophy: Michael Flanagan, PhD

The chief scientific officer at Avidity Biosciences provided clinical perspective on the function and mechanism of del-zota, an investigational antisense treatment in development for DMD amenable to exon 44 skipping. [WATCH TIME: 3 minutes]

Ifetroban Shows Promise in Slowing Cardiac Decline in Duchenne Muscular Dystrophy

Findings from the phase 2 FIGHT DMD trial suggest an investigational oral thromboxane prostanoid receptor antagonist may preserve heart function in patients with DMD-associated cardiomyopathy.

New Post-Marketing Study to Test Omaveloxolone in Pregnant and Lactating Patients

This phase 4 study on omaveloxolone will assess long-term maternal and infant health, potentially informing future safety guidelines for patients with Friedreich ataxia.

Ocular Symptoms of Myasthenia Gravis Improved With Rozanolixizumab

The MyacarinG study post-hoc analysis demonstrated rozanolixizumab's potential to significantly reduce ocular symptoms in gMG, with consistent improvements across multiple scoring systems.

Dystrophin Expressing Chimeric Cell Therapy Demonstrates Long-Term Safety in Non-Ambulatory Duchenne Muscular Dystrophy

Three patients treated with DT-DEC01 showed improvements in various functional tests, including echocardiography, arm movements, grip strength, and spirometry after 12-24 months of treatment.

Baseline Characteristics and Updates for Phase 3 FORTIFY Study of BBP-418 in LGMD

In the study, most participants are aged 18-60, with 53% female and 73.1% carrying the c.826C>A mutation, while 15 patients are aged 12-18.

Eteplirsen Treatment Significantly Slows Heart Function Decline in Duchenne Muscular Dystrophy

A recent study shows that eteplirsen, a drug promoting dystrophin production, significantly slowed the decline in heart function, specifically left ventricular ejection fraction, in patients with Duchenne muscular dystrophy.

New Study to Test Subcutaneous Efgartigimod PH20 in Juvenile Myasthenia Gravis

Spanning 14 weeks, the study evaluates age-appropriate dosing, safety, pharmacokinetics, and clinical effects through once-weekly injections of efgartigimod PH20 SC in juvenile myasthenia gravis.

Limb-Girdle Gene Therapy Bididistrogene Xeboparvovec Demonstrates 5-Year Safety in Early-Stage Trial

Over the 5-year period, treatment-related adverse events with the gene therapy were mild or moderate, with most occurring within the first 90 days after infusion.

What to Expect From the 2025 CMSC Annual Meeting: Kathleen Costello, CRNP, MSCN

The interim chief executive officer at the Consortium of Multiple Sclerosis Centers invites healthcare professionals to the Consortium’s annual meeting from May 28–31 in Phoenix, Arizona. [WATCH TIME: 2 minutes]

Analyzing Better Preclinical Models in Multiple Sclerosis Research: Christian Cordano, MD, PhD

The associate researcher at the University of California, San Francisco discussed a refined EAE model that could better replicate MS pathology, enabling deeper insights into demyelination, neuronal loss, and remyelination. [WATCH TIME: 6 minutes]

Assessing Neuroimmune Interactions in the Progression and Management of Multiple Sclerosis: Jack P. Antel, MD

The professor of neurology and neurosurgery at McGill University discussed the evolving understanding of neuroimmune interactions in MS, highlighting how these interactions contribute to disease progression and potential repair mechanisms. [WATCH TIME: 4 minutes]

The Influence of Socioeconomic Status and Diet on Multiple Sclerosis Outcomes: Sarah Levy, PhD

The assistant professor in the department of neurology at Mount Sinai talked about a recent study that highlighted how socioeconomic status and diet could significantly impact physical and cognitive outcomes in patients with MS. [WATCH TIME: 2 minutes]

Personalized Medicine and Biomarker Innovations in Multiple Sclerosis Treatment: Enrique Alvarez, MD, PhD

The professor of neurology at University of Colorado School of Medicine discussed the evolving landscape of MS treatment, highlighting the role of personalized medicine and biomarker-driven decision-making. [WATCH TIME: 5 minutes]

Using Brain Connectomes to Predict Disease Progression and Treatment Response in Multiple Sclerosis: Ceren Tozlu, PhD

The instructor in the department of radiology at Weill Cornell Medicine discussed how structural and functional brain connectomes can potentially improve predictions of MS progression and treatment response. [WATCH TIME: 4 minutes]

Pretreatment Meningococcal Vaccination Rates High Among Patients With NMOSD Transitioning From Rituximab to Ravulizumab

A post-hoc analysis of patients from the CHAMPION-NMOSD trial revealed that the majority received their initial meningococcal vaccination within 6-months of their last rituximab dose.