Category Archives: Muscular Dystrophy Treatment

Monday, November 26, 2012 Sarepta Therapeutics (Nasdaq:SRPT) says its collaborating with a London scientist and other organizations for development of a fourth drug candidate for the treatment of Duchenne muscular dystrophy (DMD), a rare, degenerative neuromuscular disorder causing muscle loss and a premature death. The move is spurred in part by good results of a Phase 2b study announced last month of eteplirsen, Sareptas lead drug candidate using its proprietary technology to skip a sequence of DNA, known as exon 51, which is hoped to enable the repair of genetic mutations that affect about 13 percent of the total DMD population. The results of the trial showed significant improvement over a placebo, according to the company, in a 48-week Phase 2b study measuring increase in dystrophin, a protein which slows the progression of the disease, as well as the so-called six minute walk test, measuring the distance a DMD patient can walk in six minutes. The aim of the new collaboration - with professor Francesco Muntoni, M.D., of the University College London, the Dubowitz Neuromuscular Centre, the Institute of Child Health and other scientists from the European Union and United States- is to develop a drug to similarly skip another … Continue reading →

A SPECIALIST physiotherapy unit is opening in Coventry to help people with muscular dystrophy. The neuromuscular centre at Herewood College in Tile Hill will be the first of its kind in the region and only the second in the country. Charity chiefs will join campaigners to launch the centre this week. There are more than 3,000 people who suffer from the muscle wasting condition in Coventry who could benefit from the new service. Coun Harjinder Singh Sehmi, whose daughter is one of those patients, is backing the centre. He said: "My daughter has been to [the first centre] in Cheshire twice and I proposed they should have a centre in the Midlands as well. "I was delighted when they told me they were already planning one. "This will be very beneficial to the community of Coventry." Muscular dystrophy is an inherited disease that affects an estimated 11,500 people in the Midlands. As the condition progresses, patients often have to use a wheelchair or even a ventilator. More here: Specialist centre to open in Coventry to help those with muscle wasting diseases … Continue reading →

CAMBRIDGE, MA--(Marketwire - Nov 26, 2012) - Sarepta Therapeutics ( NASDAQ : SRPT ), a developer of innovative RNA-based therapeutics, announced today a collaboration for the development of an additional exon-skipping drug targeting exon 53, its fourth drug in development, in support of Sarepta's broad-based program for the treatment of Duchenne muscular dystrophy (DMD).Sarepta's collaboration is with University College London's (UCL) scientist, Professor Francesco Muntoni, MD, the Dubowitz Neuromuscular Centre, the Institute of Child Health and other scientists from the EU and US.The EU Health Innovation-1 2012 Collaborative research grant will support certain IND-enabling activities and clinical proof of concept studies for an exon 53-skipping therapeutic.Sarepta recently announced positive results from its extension study of its Phase IIb trial of eteplirsen, its exon 51-skipping therapeutic candidate for the treatment of DMD.Sarepta is also developing other PMO-based exon-skipping drug candidates for exons 45 and 50. "The recent compelling clinical data on eteplirsen targeting exon 51, which started with our work on the Phase I study in the UK, provides a strong foundation for using Sarepta's technology against exon 53," said Francesco Muntoni, professor of pediatric neurology and head of the Dubowitz Neuromuscular Centre at the UCL Institute of Child Health, London. … Continue reading →

Tuesday, November 27, 2012 Finding a treatment for Duchenne muscular dystrophy (DMD) wont just mean developing one drug, says Chris Garabedian, president and CEO of Sarepta Therapeutics (Nasdaq:SRPT). It will mean developing as many as 20. The fatal inherited disorder affects one in 3,500 young boys, confining most of them to wheelchairs by the age of 12. Few patients with it live past the age of 30. Years of telethons by the Muscular Dystrophy Association and comedian Jerry Lewis have raised awareness of the disease, but today, available treatments are mostly limited to steroids - which only prolong the boys ability to walk by 2-5 years - and surgery, including heart transplants, according to the National Human Genome Institute. After Sareptas announcement this week that it will begin development of a fourth drug candidate for the treatment of DMD, Garabedian told Mass High Tech that the company is close to understanding the very origins of the disease in mutations of one of the longest genes in the human body, which is responsible for creating the muscle protein, dystrophin. Seraptas approach is to develop drugs which skip certain sections of the DNA where mutations inhibit production of dystrophin. While that wouldnt … Continue reading →

Public release date: 27-Nov-2012 [ | E-mail | Share ] Contact: Paddy Moore padmoore@ohri.ca 613-737-8899 x73687 Ottawa Hospital Research Institute November 27, 2012 Ottawa Scientists have discovered that injecting a novel human protein into muscle affected by Duchenne muscular dystrophy significantly increases its size and strength, findings that could lead to a therapy akin to the use of insulin by diabetics. These results were published today in the Proceedings of the National Academy of Sciences by Dr. Julia von Maltzahn and Dr. Michael Rudnicki, the Ottawa scientist who discovered muscle stem cells in adults. "This is an unprecedented and dramatic restoration in muscle strength," says Dr. Rudnicki, a senior scientist and director for the Regenerative Medicine Program and Sprott Centre for Stem Cell Research at the Ottawa Hospital Research Institute. He is also a Canada Research Chair in Molecular Genetics and professor in the Faculty of Medicine at the University of Ottawa. "We know from our previous work that this protein, called Wnt7a, promotes the growth and repair of healthy muscle tissue. In this study we show the same types of improvement in a mouse model of Duchenne muscular dystrophy. We found that Wnt7a injections increased muscle strength almost two-fold, … Continue reading →

"Nightline" profiled Darius Weems, a 23-year-old aspiring rapper who suffers from Duchenne Muscular Dystrophy, a rare genetic disorder that results in the disintegration of muscle tissue. We wanted to provide resources to our viewers who might be seeking more information about Darius's story, his cause and the disease DMD. 'Darius Goes West': At age 15, Darius and his friends took an extraordinary journey across the United States in a van built to accommodate his wheelchair. The trip became a documentary, "Dairus Goes West," which Logan Smalley directed and produced. The film, which was partly a coming of age story and partly a story of friendship and gratitude, has become a movement. Darius now travels to schools around the country to talk about DMD, and raises money for DMD research. For more information or to learn how you can make a donation, visit the website: http://www.dariusgoeswest.org/ Cynthia McFadden/ABC News Kennedy Krieger Institute's DMD Clinical Trial: The Kennedy Krieger Institute research team has collaborated with Johns Hopkins University School of Medicine's Division of Cardiology, to discover whether sildenafil, the active ingredient in Viagra will help stimulate deteriorating muscles, especially around the hearts of Duchenne victims. Darius is one of their research subjects, … Continue reading →

Paul Revens, Angela Cornwell-Revens, Thomas Revens, Amy Revens, Daniel McLellan, Charlie McLellan, Debra McLellan and James McLellan. Catherine Bell Tuesday, November 13, 2012 2:32 PM SCORES of celebrities have donated items to a charity auction to a help a three-year-old boy from Brampton with a rare muscle-wasting condition. To send a link to this page to a friend, you must be logged in. Daniel McLellan has Ullrich congenital muscular dystrophy, which causes muscles to waste, as well as progressive stiffness of the muscles around his spine. The condition makes it increasingly difficult for those affected to walk and many children develop respiratory problems as the muscles in their chests weaken. While Dan can walk, he cannot run or jump and he struggles to get up from a seated position. His parents, Debra and James, are working with the Muscular Dystrophy Campaign to fund research in the hope of developing a treatment. Mrs McLellans brother, Paul Revens, and his wife Angela, from Bury St Edmunds, have a launched an eBay auction of celebrity memorabilia in a bid to raise money for Dans Hope a fund set up by Mrs McLellan to help support a trial of a new drug, which it … Continue reading →

GOSHEN Lisa Crawford wasnt looking for a handout when she stopped by the College Avenue Fire Station last February. She wanted to let the firemen know about the upcoming Muscular Dystrophy Association (MDA) Muscle Walk and hoped they might donate a little to help find a cure. Ever since her 9-year-old son Brendon was diagnosed with Duchenne Muscular Dystrophy, a 100 percent fatal disease, Lisa has been on a quest to see that a cure is found before she loses her son. This severe, progressive muscle-wasting condition causes most children to be wheelchair bound by the time they are 12. Life expectancy is late teens to early 20s. What Lisa got when she entered that fire station was not only money to donate to the MDA Muscle Walk, but financial assistance for her family and a friendship between firemen and family that will stay the course. She didnt ask us for help, said Fireman Courtney Snyder. But we were looking for someone in the community who we could support in some way. Snyder got the OK from the Goshen Professional Fire Fighters Local 1443 and the station has helped the family with its frequent trips to Cincinnati for doctors visits. … Continue reading →

SAXTONS RIVER, Vt. Jenn and Craig McNary and their family of six are in a tough spot. Their two oldest sons have Duchenne Muscular Dystrophy, a rare form of muscular dystrophy that only affects boys. However, only one son, Max, 10, was chosen to be in an experimental drug trial that seems to be reversing his symptoms. About 16 weeks into treatment, Max started showing signs that he was building strength. While his condition was improving on the drug eteplirsen, however, his older brother Austin, 13, was watching from his wheel-chair. "Around week 36, we started telling people, 'Hey, this drug is working. Now we need it for Austin and all the other boys, what's the fastest route for this?'" said Jenn McNary. As the parents soon found out, there really is no fast route. The family has drafted a petition to the Food and Drug Administration, hoping that the agency would speed up the drug's approval process through a new orphan drug bill, passed by Congress this summer. "The FDA has its red tape," said Craig McNary, "and the law says they'll do things faster, but how fast is fast?" For over seven months, the family has been trying … Continue reading →

Recent scientific breakthroughs are offering real hope for patients living with one of the most common forms of muscular dystrophy. Scientists from around the world converged on San Francisco for the FSH Society's International Research Consortium meeting to share the latest advances in facioscapulohumeral muscular dystrophy (FSHD) research, including a new genetic explanation for the muscle-wasting disease. San Francisco, CA (PRWEB) November 08, 2012 Thanks to the efforts of Perez and many other patients, FSHD research has come a long way. The evidence was there for all to see at the FSH Societys 2012 International Research Consortium & Research Planning Meeting, held on November 6, 2012, in conjunction with the annual meeting of the American Society of Human Genetics in San Francisco, CA. The biggest buzz at the meeting was generated by the discovery of a new gene for FSHD by scientists from the U.S., Netherlands and France. The study by Richard Lemmers and colleagues will be published in Nature Genetics on November 11. Over 90 percent of FSHD patients have a shortening of the D4Z4 region on chromosome 4, which results in the expression of a gene called DUX4, with apparent toxic effects in muscle. The newly found gene … Continue reading →