Category Archives: Muscular Dystrophy Treatment

Public release date: 7-Jul-2013 [ | E-mail | Share ] Contact: Krista Conger kristac@stanford.edu 650-725-5371 Stanford University Medical Center STANFORD, Calif. Children with Duchenne muscular dystrophy often die as young adults from heart and breathing complications. However, scientists have been puzzled for decades by the fact that laboratory mice bearing the same genetic mutation responsible for the disease in humans display only mild symptoms and no cardiac involvement. Now, researchers at the Stanford University School of Medicine have developed a mouse model that accurately mimics the course of the disease in humans. The study is the first to demonstrate a molecular basis for the cardiac defect that is the primary killer of people with Duchenne muscular dystrophy. Furthermore, the study provides evidence for a potential treatment to help prolong heart function. The mouse model also will allow researchers and clinicians to test a variety of therapies for the inherited condition. "Until now, scientists had no animal model of Duchenne muscular dystrophy that manifests the symptoms of the cardiac disease that kills children and young adults with the condition," said Helen Blau, PhD, the Donald E. and Delia B. Baxter Professor at Stanford and director of the Baxter Laboratory for Stem … Continue reading →

An in vitro fertilization technique using DNA from three people could prevent mitochondrial diseases. STORY HIGHLIGHTS London (CNN) -- The United Kingdom took a step Friday toward being the first country in the world to allow a pioneering in vitro fertilization technique using DNA from three people that could prevent mitochondrial diseases but that also raises significant ethical issues. One in 6,500 babies in the United Kingdom is born with mitochondrial disorder, which can lead to serious health issues such as heart and liver disease, respiratory problems and muscular dystrophy. Problems with mitochondria, the "powerhouse" cells of the body, are inherited from the mother, so the proposed IVF treatment would mean an affected woman could have a baby without passing on mitochondrial disease. But the cutting-edge IVF technique, which involves transferring nuclear genetic material from a mother's egg or embryo into a donor egg or embryo that's had its nuclear DNA removed, raises ethical questions. The new embryo will contain nuclear DNA from the intended father and mother, as well as healthy mitochondrial DNA from the donor embryo -- effectively creating a "three-parent" baby. The amount of donor DNA in the mitochondria will, however, be much less than the parental … Continue reading →

Britain took a step closer on Friday to becoming the first country to allow radical treatment that uses DNA from three parents to create an embryo. The government backed an IVF-based technique designed to avoid serious mitochondrial diseases inherited on the maternal side, such as muscular dystrophy and cardiac problems. Mitochondria are the structures within cells that convert energy from food into a form that the body can use. The technique would replace some of the unhealthy DNA with healthy DNA from the so-called "third parent". "It's only right that we look to introduce this life-saving treatment as soon as we can," said Sally Davies, the chief medical officer for England. Although there were "clearly some sensitive issues here", Davies said she was "personally very comfortable" with the technique. Parliament is due to debate the regulations next year, opening the way for the treatment to be offered to at-risk women. One in 200 children is born each year with a form of disease in their mitochondrial DNA. Scientists are developing a technique to remove some of the mitochondrial DNA of the mother and replace it with DNA from a second woman to create a healthy embryo. Transmitted through the maternal … Continue reading →

THE British government says it would pursue a radical fertility technique that uses DNA from three parents to create an embryo. The IVF-based technique is designed to avoid serious mitochondrial diseases inherited on the maternal side, such as muscular dystrophy. Mitochondria are the structures within cells that convert energy from food into a form that the body can use. The technique would replace some of the unhealthy DNA with healthy DNA from the so-called "third parent". "It's only right that we look to introduce this life-saving treatment as soon as we can," said Sally Davies, the chief medical officer for England, on Thursday. Politicians are due to debate the regulations in parliament next year, setting the stage for Britain to become the first country to offer the treatment. One in 200 children is born each year with a form of disease in their mitochondrial DNA. Scientists are developing a technique to remove some of the mitochondrial DNA of the mother and replace it with DNA from the "third parent" to create a healthy embryo. All of a human's visible characteristics are encoded in DNA found in the cell nucleus. This means that any child born using the technique under consideration … Continue reading →

PBR Staff Writer Published 28 June 2013 GlaxoSmithKline's investigational compound drisapersen is being granted Breakthrough Therapy status by the US Food and Drug Administration (FDA) for the potential treatment of patients suffering from Duchenne Muscular Dystrophy (DMD). The Breakthrough Therapy designation has been granted by the regulator, after vetting the results from the Phase II Study (DMD114117), submitted in April at Cold Spring Harbor. The phase II study reported that boys taking drisapersen were able to walk 35m more than those on placebo, with the difference maintained up to 48 weeks. Drisapersen, which will be used in the treatment of DMD caused by mutations in the dystrophin gene, is being developed by GlaxoSmithKline, licensed from Dutch company Prosensa Therapeutics. With an aim to expedite the development and review of drugs for serious or life-threatening conditions, the FDA created the Breakthrough Therapy designation and enacted it in 2012. Commenting on the FDA approval, CureDuchenne CEO and Founder Debra Miller said, "The Breakthrough Therapy designation means the FDA has reviewed the data for drisapersen and will provide additional resources." "These results validate our early efforts to fund novel research and offer hope for finding an effective and safe treatment for all those … Continue reading →

NEWPORT BEACH, Calif.--(BUSINESS WIRE)-- CureDuchenne, a leader in raising awareness and funding research to find a cure for Duchenne muscular dystrophy, congratulates Prosensa Therapeutics BV on its initial public offering. CureDuchenne has been a longtime supporter of the company, providing early-stage funding 10 years ago for Prosensas antisense (exon skipping) research that led to the development of drisapersen, a promising novel drug for Duchenne. The U.S. Food and Drug Administration recently granted Breakthrough Therapy designation to drisapersen. Drisapersen has shown promising results in Phase II clinical trials released in early 2013 and CureDuchenne looks forward to seeing Phase III data later this year. CureDuchenne was the first muscular dystrophy organization to recognize the potential of Prosensas exon skipping research and in 2004 committed $1.3 million to further that research. A few years later, venture capital firms validated CureDuchennes investment with several million dollars to continue their research. In 2009, GlaxoSmithKline committed up to $650 million to put four of Prosensas exon skipping compounds on the research and development path. CureDuchenne saw great potential in Prosensas leadership and research teams 10 years ago and is proud to have been an early supporter of the company, said Debra Miller, CEO and Founder, … Continue reading →

NEWPORT BEACH, Calif.--(BUSINESS WIRE)-- CureDuchenne is pleased that the U.S. Food and Drug Administration (FDA) granted Breakthrough Therapy designation to drisapersen, an exon-51 skipping compound for the potential treatment of patients with Duchenne Muscular Dystrophy. Drisapersen is being developed by GlaxoSmithKline plc (GSK) and licensed from Prosensa Therapeutics. The Breakthrough Therapy designation is one of several programs created by the FDA to expedite the development and review of drugs for serious or life-threatening conditions. It was enacted in 2012 as part of the Food and Drug Administration Safety and Innovation Act (FDASIA). For more information on the Breakthrough Therapy designation, click here. The Breakthrough Therapy designation means the FDA has reviewed the data for drisapersen and will provide additional resources, said Debra Miller, CEO and Founder, CureDuchenne. This classification generally is for clinical programs that demonstrate medical significance. Duchenne is a disease that progresses very quickly and for which theres currently no cure, so on behalf of the Duchenne community, we are grateful to the FDA for recognizing the need and potential for this drug. We hope to see the drug approved soon. CureDuchenne, a leader in raising awareness and funding research to find a cure for Duchenne, committed significant … Continue reading →

June 25, 2013 Researchers at Boston University College of Health & Rehabilitation Sciences: Sargent College have identified a combinatorial therapeutic approach that has proven effective in treating muscular dystrophy in a mouse model. The findings, published in Human Molecular Genetics, represent a paradigm shift for the treatment of muscular dystrophy as well as a host of other disabling and devastating muscle diseases. The study was led by Mahasweta Girgenrath, PhD, assistant professor and director of the Muscle Disorders and Regenerative Biology Laboratory at BU Sargent College's Department of Health Sciences. Boston University (BU) researchers and postdoctoral fellows Jenny Yamauchi, Ajay Kumar, Lina Duarte, and Thomas Mehuron were collaborators on this study. Muscular Dystrophy type 1A (MDC1A) is the second most common form of congenital muscular dystrophy. Patients with this disease have poor muscle tone at birth, extremely compromised neuromuscular function, and are rarely able to walk independently. Most patients with MDC1A succumb to a premature death due to either respiratory complications or failure to thrive. Although significant strides have been made towards understanding the molecular and biochemical mechanisms underlying MDC1A, there remains no effective therapy in place to combat this lethal disease. The research team, led by Girgenrath, hypothesized that … Continue reading →

Firefighters will be out on the streets of Waltham asking motorists to help "Fill the Boot" for the Muscular Dystrophy Association on June 21. Every dollar passing motorists can pitch into the firefighters boots helps Local 866 firefighters provide medical treatment and support services to people and their families living with neuromuscular diseases in the Waltham area. The International Association of Fire Fighters has been a national MDA partner for more than 50 years and remains committed to the fight to end neuromuscular diseases, according to the organization. "Firefighters are American heroes who make such a difference for the people and families we serve," said MDA Area Director Vanessa Malfitano. "The funds they raise are used for health care services and equipment support, and to help send kids to free MDA summer camps. We are grateful for everything they do." Fill the Boot funds also are used to support some of the 300 worldwide research projects seeking better treatments and cures for the more than 40 neuromuscular diseases covered by MDA, including Duchenne muscular dystrophy, spinal muscular atrophy and ALS. "We know the money we raise definitely makes a difference in the lives of people affected by neuromuscular diseases, and … Continue reading →

Public release date: 18-Jun-2013 [ | E-mail | Share ] Contact: NCATS Office of Communications ncatsinfo@mail.nih.gov 301-435-0888 NIH/National Center for Advancing Translational Sciences (NCATS) The National Institutes of Health has awarded $12.7 million to match nine academic research groups with a selection of pharmaceutical industry compounds to explore new treatments for patients in eight disease areas, including Alzheimer's disease, Duchenne muscular dystrophy and schizophrenia. The collaborative pilot initiative, called Discovering New Therapeutic Uses for Existing Molecules, is led by the National Center for Advancing Translational Sciences (NCATS) and funded by the NIH Common Fund. The process of developing a new therapeutic is long and difficult. The average length of time from target discovery to approval of a new drug is more than 13 years, and the failure rate exceeds 95 percent. This failure rate means, however, that many existing partially developed compounds could be advanced to clinical trials more quickly than starting from scratch. "With thousands of diseases remaining untreatable, there is a sense of urgency to accelerate the pace at which discoveries are transformed into therapies for patients," said Health and Human Services Secretary Kathleen Sebelius. "This program helps forge partnerships between the pharmaceutical industry and the biomedical research … Continue reading →