Muscular Dystrophy

The chief medical advisor at the Muscular Dystrophy Association shared key highlights of what attendees can expect at the 2025 MDA Clinical and Scientific Conference. [WATCH TIME: 4 minutes]

Capricor may qualify for a priority review voucher from the FDA if deramiocel receives marketing approval for the treatment of Duchenne muscular dystrophy.

As of July 2024, 2 participants in the ongoing CONNECT1 study have received 4 doses of PGN-EDO51 at 10 mg/kg, which has been generally well tolerated, with initial results expected in early 2025.

A recently initiated phase 1/2 trial of NS-050/NCNP-03 will assess patients with Duchenne muscular dystrophy on dystrophin production, muscle strength, mobility, and functional exercise capacity.

In previously reported data, AOC 1020 demonstrated a consistent reduction in double homeobox 4 regulated genes among patients with facioscapulohumeral muscular dystrophy at 4 months.

The NDA includes data from a global placebo-controlled, 72-week study as well as findings from the STRIDE registry, an ongoing, observational, real-world study of ataluren in routine care.

Ongoing analysis of vamorolone's effects as a mineralocorticoid receptor antagonist in healthy adults is underway, with results to be presented at upcoming medical conferences.

The chief executive officer and founder at CureDuchenne discussed efforts to bring specialized physical therapy and infrastructure support to underserved regions to improve care for patients impacted by Duchenne worldwide. [WATCH TIME: 5 minutes]

Treatment with DYNE-251 revealed dose dependent exon skipping and dystrophin expression as well as improvement in multiple functional end points in both cohorts of the phase 1/2 DELIVER trial.

Screening for DMD in Massachusetts is expected to begin by June 2026, which could enable earlier diagnosis and intervention.

AOC 1044, an investigational antisense oligonucleotide treatment for patients with Duchenne muscular dystrophy, has previously been granted orphan drug and fast track designation by the FDA.

Scholar Rock's TOPAZ phase 2 trial shows sustained motor function improvements in SMA patients treated with apitegromab over 48 months, with phase 3 results expected soon.

Enrollment in the dose level 2 expansion cohort is expected to complete early in Q3 2024, with initial strength and functional data anticipated in the second half of 2024.

To ensure participant safety, all boys who received the gene therapy in the clinical program will be followed up for long-term safety monitoring.

Pending positive results from an early-stage trial, a mid-stage study evaluating MyoPAXon’s effect on other targeted muscles and muscle function will be initiated.

A recent study revealed that pediatric patients with Duchenne and Becker muscular dystrophy have low rates of corticosteroid use.

Additional interim clinical study results comprising 6- and 12-months of treatment data on multiple patients, is expected to be readout in the first quarter of 2025.

Overall, treated patients showed improvements in multiple cardiac measures, including left ventricular ejection fraction, as well as indexed volumes.

Following the 12-week program, participants reported numerous physical and neuropsychiatric benefits in their daily living, such as increased energy level, better mood, and improvement in balance.

The newly added cohort allows for greater opportunity to treat patients earlier, with the hope of impacting disease course and preserving muscle.

Additional data of a phase 2 study presented at the 2024 SLEEP Annual Meeting demonstrated that pitolisant significantly improved in secondary end points among patients with myotonic dystrophy type 1.

The AAV vector-based gene therapy originally received FDA approval for treating ambulatory pediatric patients aged 4 to 5 years with Duchenne under the accelerated approval pathway.

AOC 1020 (del-brax) from Avidity Biosciences shows over 50% reduction in DUX4 regulated genes, trends of functional improvement, and favorable safety in FSHD patients.

Satellos Bioscience has established a clinical advisory board to aid in developing their lead drug candidate SAT-3247, an oral small molecule therapy for Duchenne muscular dystrophy.

Fordadistrogene movaparvovec is a recombinant AAV9 agent carrying a shortened version of the dystrophin gene, being assessed in the phase 3 CIFFREO study.