News

A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Pfizer, Inc began a Phase 1b clinical trial (NCT03362502) for its investigational mini-dystrophin gene therapy product, PF-06939926, in patients with Duchenne muscular dystrophy (DMD). The first dose of the mini-dystrophin gene ( a shortened version of the human dystrophin gene) was given…

A genetic compensation mechanism discovered in zebra fish could have implications in the treatment of muscle diseases, a recent study suggests. The study, “Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein,” appeared in the journal PLOS Genetics. Many…

Parent Project Muscular Dystrophy (PPMD) has selected PerkinElmer to provide genetic testing for its Decode Duchenne program, which offers testing and counseling at no cost to eligible Duchenne muscular dystrophy (DMD) patients and their families. The DMD gene is located on the X chromosome — half of the X and…

Omigapil, an investigational therapy by Santhera Pharmaceuticals, proved to be safe and well-tolerated in children and adolescents with congenital muscular dystrophy (CMD), in a Phase 1 clinical trial. Switzerland-based Santhera recently announced the successful completion of the CALLISTO trial (NCT01805024), which tested omigapil in pediatric patients with…

Gyula Acsadi is an expert in three of the world’s most expensive rare illnesses to treat: Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), and Pompe disease. Acsadi, head of neurology and rehabilitation at Connecticut Children’s Medical Center in Hartford, said he’s convinced that new therapies for these inherited…

American researchers have developed a new way of delivering a gene editing therapy that significantly increases the time a repaired gene can generate the protein that’s missing in a disease. This means that a gene therapy does not have to be repeated as much to help a person counteract an…

The use of tamoxifen and Evista (raloxifene) improved cardiac, respiratory, and skeletal muscle functions, and increased bone density in a mouse model of muscular dystrophy (MD), research from the Carolinas Medical Center suggests. The study, “Long-Term Treatment of Tamoxifen and Raloxifene Alleviates Dystrophic Phenotype and Enhances Muscle Functions of FKRP Dystroglycanopathy,”…

Magnetic nanotubes with a spear-like tip may enhance the precision and effectiveness of gene therapy delivery, a promising therapeutic strategy for many genetic diseases, including muscular dystrophy, according to UCLA researchers. The study, “Precision-Guided Nanospears for Targeted and High-Throughput Intracellular Gene Delivery,” was published in the journal ACS Nano.

The Parent Project Muscular Dystrophy (PPMD) is holding its 24th annual conference this year from June 27 to July 1 in Scottsdale, Arizona. Patients, families, physicians, industry partners, and other members of the community will gather at the event to discuss current issues related to Duchenne’s muscular dystrophy…