News

MDA 2024: Gene therapy’s benefits most pronounced in young boys

Among ambulatory boys with Duchenne muscular dystrophy (DMD), a one-time treatment with investigational gene therapy fordadistrogene movaparvovec has helped preserve functions and increase muscle volume for three years, especially in the youngest patients. That’s according to updated analyses from a Phase 1b trial (NCT03362502), in which the…

MDA 2024: Myotonic dystrophy type 1 reverses with AOC 1001

Long-term treatment with AOC 1001 continues to be safe and may reverse the progression of myotonic dystrophy type 1 (DM1), according to new data. A year of treatment eased myotonia, that is, the inability of muscle to relax after they’ve contracted, and improved muscle strength along with outcomes…

LGMD scientific workshop gathers experts to tackle unmet needs

Patients and experts in limb-girdle muscular dystrophy (LGMD), along with drug developers, community leaders, and regulatory agency personnel, came together for the LGMD Scientific Workshop to discuss how to tackle the unmeet therapeutic needs of people with these muscle-wasting diseases. The workshop, held in early February in Maryland,…

New cell-based study reveals autoimmune mechanism in DM2

A cell-based study revealed the biological mechanism behind the increased tendency for people with myotonic dystrophy type 2 (DM2) to develop autoimmune diseases. Researchers found that the genetic defect that causes DM2, called a repeat expansion, indirectly triggered an abnormal, antiviral immune response in patient cells. “That was our…

Exon-skipping AOC 1044 gets FDA rare pediatric disease status

The U.S. Food and Drug Administration (FDA) has granted rare pediatric disease designation to AOC 1044, an experimental therapy for people with Duchenne muscular dystrophy (DMD) caused by mutations that are amenable to exon 44 skipping. The FDA gives the designation to treatments with the potential to improve care…

SAT-3247 improves muscle function in FSHD mouse model

SAT-3247, an oral therapy candidate for rebuilding muscle tissue, improved muscle function in a mouse model of facioscapulohumeral muscular dystrophy (FSHD). Developed by Satellos Bioscience, the therapy is the lead treatment candidate for Duchenne muscular dystrophy (DMD), with the first clinical trial of SAT-3247 for DMD…

MDA advocacy program awards $140K to 7 rare disease groups

With projects spanning gene therapy research, patient advocacy, and air travel safety, seven U.S. organizations will receive $140,000 in overall funding from the Muscular Dystrophy Associations (MDA) Advocacy Collaboration Grant Program. The program, which opened in 2022, seeks to support and enhance key public policy and advocacy initiatives…