*. Experts at Children’s National Hospital developed a preclinical gene therapy that targets the primary cellular deficit in this rare condition, limb-girdle muscle dystrophy (LGMD 2B). Researchers used a single injection to restore the muscle’s ability to repair itself. This resulted in decreased muscle degeneration and improved muscle function. According to the study published in Journal of Clinical Investigation, the treatment was safe and attenuated fibrofatty muscle degeneration. It also restored myofiber size, strength, and muscle mass.
With an incidence of less than 1 in 100,000, LGMD2B is a rare disorder caused by a genetic mutation in a large gene called dysferlin. This defective gene causes muscle weakness in the legs, arms, shoulders, pelvic girdle, and shoulder. Children and adults affected by this gene may have difficulty walking, climbing stairs, or getting out of chairs. People with the condition often lose their ability to walk within a few years of the onset. They may also need help with daily tasks like dressing, showering, and moving.
This research described a new method that does not require packaging large genes, such as dysferlin, nor giving large vector doses to target muscles. These bottlenecks are common in gene therapy efforts for muscular dystrophies.
” Patients with LGMD2B do not have any gene- or drug-based treatments available. We are one of the few centers that is developing therapeutic approaches to this disease,” stated Jyoti K.Jaiswal, M.Sc. Dr. is the senior investigator at Children’s National’s Center for Genetic Medicine Research. “We are currently working to improve the efficacy and conduct a longer-term safety/efficacy study in order to facilitate clinical translation of this therapy. “
The genetic defect in dysferlin associated with LGMD2B causes a degrading or truncation of the encoded protein. This affects the ability of muscle fibers to heal and is essential for healthy muscles. Pre-clinical gene therapy is used to treat recessive disorders like LGMD2B. This allows the muscle to produce the missing proteins.
” The large gene mutation in this disease and the impediments to gene therapy vector delivery to all muscles pose significant challenges in developing gene therapies for this condition,” stated Jaiswal.
To overcome these difficulties, the researchers discovered a way to slow down disease progression. Based on their earlier discovery, acid sphingomyelinase protein (hASM), is needed to repair damaged muscle cells. The current research involved administering a single in-vivo dose to an Adenovirus (AAV), vector, that secretes a version of hASM from the liver. This was then delivered to the muscle via blood circulation at a level found to be effective in healing LGMD2B patients’ injured muscles cells.
“More muscle degeneration leads to greater muscle regeneration. We found that hASM AAV improves muscle repair, which in turn results in a 2-fold decrease of myofibers being regenerated. “Daniel Bittel, D.P.T. is a research postdoctoral fellow at Children’s National’s Center for Genetic Medicine Research at Children’s National, and the lead author of this study.”
Sreetama S. Sen Chandra, Ph.D. was a postdoctoral fellow at Children’s National and co-lead author. He also stated that the findings were of great interest to Niemann-Pick patients type A because the preclinical model also shows poor sarcolemma repairs. “
Children’s The Center for Genetic Medicine Research (CGMR) and the Rare Disease Institute(RDI), are always looking for high-impact opportunities in precision medicine and pediatric genomics. These centers bring together the strengths of both public and private partners such as universities, hospitals, start-ups, and academic medical centers. They are also an international referral center for rare diseases.
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