Muscular Dystrophy

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.

Although a small sample of 5 patients with DMD, results showed significant expression of microdystrophin and reductions in creatine kinase, a biomarker of muscular distress, in GTN0004-treated patients.

Deflazacort, a corticosteroid approved for children with Duchenne muscular dystrophy, has been on the market since 2017 under the name Emflaza.

The FIREFISH study showed that most children maintained or improved motor functions and feeding abilities over five years.

Following the mixed results, NS Pharma is working with the FDA to determine how to proceed with viltolarsen.

Ataluren, which was conditionally approved in Europe in 2014, had its real-world use backed by data from the STRIDE registry.

Dyne aims to pursue expedited approval pathways for DYNE-251, leveraging dystrophin as a surrogate biomarker.

DYNE-101 demonstrated dose-dependent splicing correction, with the 5.4 mg/kg cohort showing a 27% mean correction at 3 months.

The phase 3 REACH trial investigating Fulcrum Therapeutics’ losmapimod in patients with facioscapulohumeral muscular dystrophy remains on track with topline data anticipated in the fourth quarter of 2024.

Avidity Biosciences anticipates to provide new cohort data from the phase 1/2 EXPLORE44 trial assessing AOC 1044 in Duchenne muscular dystrophy mutations amenable to exon 44 skipping in the second half of 2024.

Solid Biosciences is expecting to provide initial safety data on SGT-003 from the first couple of pediatric patients with Duchenne muscular dystrophy enrolled in the phase 1/2 INSPIRE Duchenne trial in mid-2024.

Avidity Biosciences is anticipated to initiate its phase 3 HARBOR trial assessing AOC 1001 as a treatment for patients with myotonic dystrophy type 1 in the second quarter of 2024.

As the company gains more information about the patient death, dosing in the other phase 3 trial, CIFFREO, has been paused until further notice.

Despite failing to meet the primary end point, AMO-02 achieved clinically and statistically significant benefit in various functional and objective assessments in the phase 2/3 REACH-CDM trial.