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CureDuchenne, a California-based non-profit organization dedicated to finding a cure for Duchenne Muscular Dystrophy (DMD), announced on Tuesday their $7 million (€5 million) collaboration with the biotechnology company, Prosensa Holding N.V.
Most mutations that truncate the reading frame of the DMD gene cause loss of dystrophin expression and lead to Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disorder caused by mutations in the dystrophin gene, without curative treatment yet available.
Today marks a much anticipated major milestone in the treatment of Duchenne, as Translarnaâ„¢ (ataluren) was granted conditional marketing authorization in the European Union for the treatment of nonsense mutation Duchenne muscular dystrophy in ambulatory patients aged five years and older.
The transplantation of myoblasts obtained from a healthy donor is a potential treatment of Duchenne muscular dystrophy (DMD). Following intramuscular injection, donor myoblasts can fuse with the myofibers of the patient and introduce the normal dystrophin gene. In a previous Phase 1A clinical trial, (Dystrophin expression in muscles of DMD patients after high-density injections of normal myogenic cells, http://www.ncbi.nlm.nih.gov/pubmed/16691118?dopt=Abstract) the investigators showed that transplantation of myoblasts grown from the muscle biopsy of a healthy donor introduced the normal dystrophin gene in the DMD myofibers, with the consequent expression of the normal dystrophin mRNA and restoration of the dystrophin protein in several myofibers.
Duchenne muscular dystrophy is a fatal X-linked disease characterized by the absence of dystrophin. Approximately 20% of boys will die of dilated cardiomyopathy that is associated with cytoskeletal protein disarray, contractile dysfunction, and reduced energy production. However, the mechanisms for altered energy metabolism are not yet fully clarified. Calcium influx through the L-type Ca2+ channel is critical for maintaining cardiac excitation and contraction. The L-type Ca2+ channel also regulates mitochondrial function and metabolic activity via transmission of movement of the auxiliary beta subunit through intermediate filament proteins.
Sarepta Therapeutics, Inc. (NASDAQ:SRPT), a developer of innovative RNA-based therapeutics, today announced data through Week 144 from Study 202, a Phase IIb open-label extension study of eteplirsen in patients with Duchenne muscular dystrophy (DMD). After nearly three years of follow up, results on the 6-minute walk test (6MWT) showed a decline in walking ability at a rate slower than would be expected based on available DMD natural history data.
Today, Summit released further results with new data from its recently completed Phase IB clinical trial of SMT C1100 at the 13th International Congress of Neuromuscular Disease in Nice, France.
Patients with Becker and Duchenne muscular dystrophies, (BMD and DMD) lack neuronal nitric oxide synthase (nNOS). nNOS mediates physiological sympatholysis, thus ensuring adequate blood supply to working muscle.
