Category Archives: Muscular Dystrophy Treatment

ARTICLE IN BRIEF In animal models of congenital muscular dystrophy type 1A, researchers identified two proteins that, when working together, strengthened muscle and prolonged their lifespan from weeks to more than two years. The proteins could be the missing links to correcting the defect in this form of muscular dystrophy, the research team said. Researchers genetically engineered mice with a congenital form of muscular dystrophy to express two smaller proteins that, when combined, strengthened muscle and prolonged their lifespan from weeks to more than two years, according to a June 28 study published in Science Translational Medicine. The research team, led by Markus A. Regg, PhD, a professor at the Biozentrum of the University of Basel in Switzerland, said the proteins could be the missing links researchers have been looking for to correct the defect in congenital muscular dystrophy type 1A, a common and severe form of the disease that is caused by mutations in LAMA2, the gene encoding laminin-alpha 2, the heavy chain of the heterotrimeric basement membrane protein laminin-211. The two smaller engineered proteins mini-agrin (mag) and alpha-LNNd seem to act as linkers in the mice to restore defective connections between muscle fibers and the supportive sheath, the … Continue reading →

The "most hated man in America" just got a taste of the U.S. justice system. Martin Shkreli, unaffectionately known as the "pharma bro"and infamous for his decision to hike the list price of Daraprim, a drug used by HIV/AIDS and cancer patients to combat infections, by more than 5,000% in 2015 under his former company Turing Pharmaceuticalswas convicted on three criminal securities fraud and conspiracy charges by a Brooklyn jury on Friday. He had been indicted on eight wire and securities fraud counts by federal prosecutors and could face years in prison after sentencing. The trial took more than a month and jury deliberations stretched out over the course of this week. Strikingly, for all the media attention on the case (propagated by Shkreli's troll-y Twitter antics and relish for stirring the pot), the trial verdict had nothing to do with the drug price hike that thrust him into the national limelight. That was entirely legalrather, the charges against Shkreli centered on him allegedly bilking his other former drug company Retrophin to repay defrauded investors of separate hedge funds that he also ran. (Shkreli was acquitted on some of the more serious wire fraud charges levied against him.) But the … Continue reading →

For decades, animal right advocates have been fighting to end the cruel practices of animal testing. Animals like rabbits, mice, non-human primates, cats, and dogs are commonly used in experimentsto test the effects of everything from makeup and cosmetics to pharmaceuticals. Treated like disposable objects rather than living beings who experience pain, these innocent animals are forced to endure lives filled with fear and agony in laboratories while they are poked, prodded, infected, and forced to ingest drugsthat have permanent damaging effects on them. A petition on Care2 written by PETA states that several institutions, including Texas A&M University, the University of Missouri, the University of North Carolina at Chapel Hill, and Frances Alfort National Veterinary school, have been conducting ongoing laboratory tests on dogs for experiments on progressive muscular degeneration. As a result, these innocent dogs are permanently losing their muscle functions and are unable to walk or swallow. As the petition explains, these tests have not led to any advancements in treating humans with muscular dystrophy, and, in fact, some of the tests have had opposite effects on humans. There are more effective and humane methods, and it is high time the suffering of lab animals ends now. … Continue reading →

There is new hope for muscular dystrophy patients as researchers, using gene therapy, successfully reversed the disease in dogs. Gene therapy aims to replace missing or defective genes in the DNA of a given cell. The technique has evolved over the years to become a viable therapy thats safe and effective, opening new paths in the management of many difficult diseases. Not only can gene editing be used to treat pathologies, but it can also to prevent them. Only, were not there just yet. Muscular dystrophy is the term used for a group of diseases in which musculature weakens and progressively degenerates until the patient loses most, ifnot all of their mobility. Symptoms of muscular dystrophy often include general muscle weakness and degeneration, stiff joints, coordination and mobility troubles, and frequent falls. In most cases a congenital condition, muscular dystrophy disorders are rare. Each disorder of muscular dystrophy is associated with distinct genetic mutations. The nature and location of the genetic mutation define the form of muscular dystrophy. Although they can occur at any age, the onset of most MD disorders starts during childhood, and usually, affected persons dont live past 30 years of age, especially with particularly aggressive forms … Continue reading →

Updated 2:31pm, Thursday, August 3, 2017 Firefighters helping fill the boot for MDA The Plainview Fire Department, along with the Plainview Professional Firefighters Association, will be participating in the Muscular Dystrophy Associations Fill the Boot Campaign. Firefighters will be out each Saturday morning during the month of August (Aug. 5, 12, 19 and 26) at the intersection of Interstate 27 and Highway 70 (Olton Road) as well as the entrance to Amigos United at 2403 Columbia St. There has always been a special bond between the MDA and firefighters across our nation including us here locally, says Rusty Powers, Plainview fire chief. We are honored to participate in this event this year and would ask the public to join us in our efforts to help fight Muscular Dystrophy. The Muscular Dystrophy Associations Fill the Boot Campaign began in 1954 and has raised more than $558 million for research and treatment of those affected with muscular dystrophy. Donations are used for research and development of new drugs, to support MDA Summer Camp for Kids and to provide resources for those who are affected. We hope that our citizens will support this event and all donations will be greatly appreciated, said Powers. … Continue reading →

A new treatment for children with Duchenne muscular dystrophy will not be made available in the Republic, the Health Service Executive has decided. Muscular Dystrophy Ireland (MDI) says the HSE has informed it that the treatment, Translarna, will not be approved for reimbursement under its drugs schemes. This is in spite of the fact that the drug is available in Northern Ireland and 22 European countries. Families of children with Duchennes have been campaigning for the past two years for it to be approved. Translarna is used to treat boys with a particular type of Duchennes, whose condition is caused by a particular genetic defect and who are aged five years and older and able to walk. It is estimated about five boys a year would have been eligible for the drug if it had been approved. MDI described the news as very disappointing. Its like being hit by a brick wall. Weve been round the houses on this over the past few years, said Lisa Fenwick, a family support worker with the charity. Last year, the National Centre for Pharmacoeconomics (NCPE) found the drug would not be cost effective, given the annual cost of about 411,000 a patient. The … Continue reading →

CHICAGO, Aug. 1, 2017 /PRNewswire-USNewswire/ -- Jiffy Lube and the Muscular Dystrophy Association (MDA) are excited to announce that they will again join together for the annual MUSCLE UP! campaign to give kids and adults with muscular dystrophy, ALS and related muscle-debilitating diseases the opportunity to live unlimited. Each August, Jiffy Lube customers are invited to make a donation of $3 or more to MDA at participating locations in support of MDA programs and families. In return, donors receive a MUSCLE UP! savings book containing more than $100 in savings from Jiffy Lube and other national retailers including Aeropostale, Enterprise, FTD, Office Depot and Office Max and Redbox. In its sixth year, the MUSCLE UP! campaign has raised more than $5 million in support of MDA research and services. "Jiffy Lube and our franchisees are passionate about giving back to the community in which we live and work and we are proud of our relationship with MDA," said Denny Reiner, Director of Marketing for Jiffy Lube International. "Participating in an MDA summer camp or spending time with families affected by neuromuscular disease is truly an impactful experience. We are glad to be a part of giving families a break while … Continue reading →

The idea of treating Duchenne muscular dystrophy by replacing defective dystrophin genes with normal ones is not new, but previous approaches have been limited by the gene's size. A University of Missouri-led team has developed a new gene transfer method to solve this problem. Duchenne is caused by mutations in the dystrophin gene, which codes for a protein of the same name. Without the stabilizing dystrophin protein, muscle fibers, including those in the heart, eventually weaken and die. Gene therapy seeks to treat DMD by restoring dystrophin production. Adeno-associated viruses (AAV) are usedto deliver the gene, as they do not cause disease in humans. But because the dystrophin gene is too large for the virus to carry, researchers had to developmodified versions of the gene, dubbed mini- or microdystrophin, for gene therapy. Problem is, editing the gene can leave out a binding site for the enzyme nNos, which is important for blood flow during muscle contraction, the researchers said. So the team, which also includes scientists from the University of Washington, developed a new AAV microdystrophin vector that has an nNos binding site and a component that promotes dystrophin expression in muscle cells. RELATED: Shortened telomeres linked to heart damage … Continue reading →

The U.S. Food and Drug Administration has approved Capricor Therapeutics plan for further development of its CAP-1002 stem cell therapy for Duchenne muscular dystrophy, paving the way for another Phase 2 clinical trial of the treatment this year. The thumbs-up came when Capricor received official minutes from a meeting with the FDAthatincluded the companys plan to file an investigational new drug application for CAP-1002. The treatment involvesrepeated intravenous injections of CAP-1002, which consists of heart stem cells that researchers believe can help regulate immune responses. The FDAs response to our proposed clinical development plan supports our near-term objective of submitting an IND [investigational new drug application] for intravenous CAP-1002 as well as provides us with clarity on a path to potential product registration, Dr. Linda Marbn, president and CEO of Capricor, said in a press release. We look forward to commencing a randomized, double-blind, placebo-controlled Phase 2 clinical trial of intravenous, repeat-dose CAP-1002 in boys and young men with DMD in the second half of 2017, she added. Capricor is already assessing the therapy in a Phase 1/2 trial (NCT02485938) of Duchenne patients with damaged heart muscles, also known as cardiomyopathy. But thestudy is delivering the cells directly to patients … Continue reading →

Duchenne muscular dystrophy (DMD) is the most common and, sadly, the most severe form of the debilitating genetic disorder. Now researchers have used a new gene therapy technique to restore muscle strength and stabilize the symptoms of the disorder in dogs, in an important step that could one day lead to the treatment being applied to children. Affecting one in 5,000 boys (but very rarely occurring in girls), DMD usually begins to show itself around the age of three to five, and progresses quickly from there. It disrupts dystrophin, a protein that's responsible for maintaining muscle integrity and strength. As a result, DMD causes the muscles to weaken and waste away, often rendering a patient unable to walk by age 12 and unlikely to live beyond their mid-20s. UPGRADE TO NEW ATLAS PLUS More than 1,500 New Atlas Plus subscribers directly support our journalism, and get access to our premium ad-free site and email newsletter. Join them for just US$19 a year. To combat genetic disorders, researchers often insert a healthy copy of the affected gene into a viral vector essentially, a harmless shell of a virus that carries the material into cells. Unfortunately, that tactic doesn't work with DMD: … Continue reading →