All articles tagged with #muscular dystrophy
Donavon Decker, who participated in early gene therapy trials for limb-girdle muscular dystrophy despite knowing it wouldn't benefit him, played a pivotal role in advancing gene therapy research and advocacy, inspiring future treatments and supporting the muscular dystrophy community until his death at 62.
Sarepta's stock declined after refusing the FDA's request to halt shipments of its gene therapy Elevidys, following patient deaths and safety concerns. The FDA's actions, including halting studies and revoking platform designations, are seen by some analysts as influenced more by public outcry than science. Despite safety issues in older, sicker patients, Sarepta reports no new safety signals in ambulatory patients, but the situation has delayed upcoming therapies and extended timelines.
Jill Viles, a self-taught geneticist and advocate who made significant contributions to understanding muscular dystrophy and genetic mutations, passed away at 50. Her life was marked by her relentless pursuit of genetic knowledge, her groundbreaking discovery linking her and an Olympic athlete through a shared mutation, and her efforts to help others with undiagnosed conditions. Her story is one of resilience, innovation, and compassion, and her legacy continues through her book and ongoing research.
Sarepta Therapeutics' gene therapy for muscular dystrophy, Elevidys, faced scrutiny after reports of a second death linked to acute liver injury, leading to a pause in treatment for older patients and a significant drop in stock prices, with potential regulatory implications.
Chip Wilson, the founder of Lululemon, is investing millions of dollars into experimental research to find a cure for his rare form of muscular dystrophy. With a net worth of over $7 billion, Wilson has established the Solve FSHD funding body and is undergoing various experimental regimens, including plasma injections and stem-cell treatments in Mexico. He is also testing longevity treatments such as the cancer drug rapamycin. Wilson is willing to take risks and play the role of a guinea pig in his quest for a cure.
A disabled 17-year-old Israeli girl with muscular dystrophy, Rut Perez, has been taken hostage by Hamas militants during the Supernova music festival near the Gaza border. Rut, who relies heavily on her family for support, attended the festival with her sister and father, who are currently missing. Israeli authorities are launching efforts to rescue the hostages, while tensions in the region escalate. Israeli ground forces have conducted raids in Gaza, targeting Palestinian rocket crews and seeking information about the hostages' whereabouts. The UN has condemned Israel's demand for 1.1 million people in northern Gaza to evacuate, citing devastating humanitarian consequences.
Scientists at Cincinnati Children's have discovered a potential new approach to managing muscular dystrophy (MD) by targeting the mitochondrial permeability pore. By preventing the pore from functioning, the researchers observed a significant reduction in muscle-wasting symptoms in mouse models of MD. The protection lasted for up to one year of life in mice, which translates to about 40 years in humans. However, further research is needed to develop a safe and effective treatment for MD in humans. The study highlights the role of mitochondria in muscle cell function and suggests a previously unrecognized pathway for treating MD and other necrotic diseases.
The first gene therapy for muscular dystrophy, developed by Sarepta Therapeutics, has been approved by the FDA with a price tag of $3.2 million per patient. The therapy, called SRP-9001, is a one-time treatment for a rare genetic disease that causes muscle weakness and wasting. The high cost has sparked controversy and raised concerns about access to life-saving treatments for rare diseases.
FDA advisers have narrowly recommended approval of the first gene therapy for Duchenne muscular dystrophy, developed by Sarepta Therapeutics. The treatment involves a single infusion of viruses that has been genetically modified to carry a gene to patients' muscles to produce a miniature version of a protein called dystrophin. While the FDA is not bound by the recommendations of its outside advisers, it usually follows them. The agency is expected to decide by the end of May.
Sarepta Therapeutics has developed an experimental gene therapy for Duchenne muscular dystrophy, which is currently being studied. The therapy works by infusing trillions of harmless viruses that have been genetically modified to ferry a gene to patients' muscles. The gene produces a miniature version of a protein called dystrophin, which boys with muscular dystrophy are missing or don't have enough of. The hope is this "micro-dystrophin" will at least help slow the progression of the disease. However, there is controversy surrounding the approval process, as the FDA is considering approving the therapy based on micro-dystrophin levels without direct evidence that it's actually helping alleviate symptoms and prevent disease progression.
Israeli researchers have discovered a hereditary muscular dystrophy disease and developed a medication to treat it, which may also be effective in treating people who take statins, a group of medicines that lower cholesterol. The medication contains the biochemical product of the defective enzyme’s activity, a substance called methyl mevalonolactone. The researchers received emergency approval for “compassionate use” to administer the drug to a 52-year-old woman in terminal condition, who was unable to use her muscles and was under constant respiration. The drug's success in treating the rare disease led the researchers to examine whether it could be effective for another condition with a similar mechanism, one that also causes muscle damage.
The family of Maria Celeste Burke Castellanos, a 22-year-old Arabi woman who died after being trapped in her wheelchair when a tornado hit her home, remembers her one year later. Castellanos lived with muscular dystrophy and fought for the gift of life since birth. Her family says she had a purpose to make them stronger. Since her death, the family has taken up gardening, and the flowers remind them of Castellanos. They hope her story shows how precious life can be and encourages people to cherish every second of their lives.
The head of the Center for Biologics Evaluation and Research at the FDA, Peter Marks, has said that the agency needs to start using accelerated approval to advance gene therapies for rare diseases. Marks said that the FDA can't be so careful about approvals under accelerated approval that it prevents potentially lifesaving therapies from getting to market in a timely manner.