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…
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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 (Â鶹Éç) patients and their families. The Â鶹Éç 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 (Â鶹Éç), 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…
As new diagnostic tools and treatments help patients with Duchenne muscular dystrophy (Â鶹Éç) live into adulthood, new challenges arise in areas like education, independence, personal relationships, health, and intimacy. To address the emerging needs of patients, caregivers and physicians of Â鶹Éç patients, the Centers for Disease Control and…
AMO Pharma’s myotonic dystrophy treatment improved patients’ cognition, fatigue and  ability to perform daily tasks, a Phase 2 clinical trial showed. The therapy, AMO-02 (tideglusib), also improved patients’ autism symptoms. In addition, it was safe and patients tolerated it well. Dr. Joseph Horrigan, the company’s chief medical officer, presented the findings at…
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