Category Archives: Muscular Dystrophy Treatment

NEWTON, Mass., March 20, 2012 /PRNewswire/ -- Halo Therapeutics, LLC, a clinical-stage biopharmaceutical company developing novel therapeutics for rare fibrotic diseases, announced today that the TREAT-NMD Advisory Committee on Therapeutics (TACT) has reviewed HT-100, Halo's drug candidate for Duchenne muscular dystrophy (DMD), and believes the compound has potential based on the proposed mechanism. TREAT-NMD is a global network dedicated to expediting the delivery of promising new therapies to patients with neuromuscular disease. TACT provides independent, objective guidance on the therapeutic potential of drug candidates (novel or repurposed), which are submitted for review on a voluntary basis. In its review of HT-100, TACT found the drug candidate to be "ready for the clinic." "TACT offers the opportunity for objective review of potential new therapies to help industry, researchers and patient advocacy groups. The review provides multi-disciplinary advice on the development of the potential therapies in the context of a realistic development pathway," said Volker Straub of TREAT-NMD. "TACT evaluated the proposal from Halo Therapeutics and felt it was well prepared, and that the compound has potential based on the proposed mechanism. Overall the plan to progress to a clinical trial is realistic." DMD is a progressive and fatal neuromuscular disorder that … Continue reading →

Rhenovia Pharma of Cambridge and Mulhouse, France has initiated drug research programs in rare, orphan and neglected diseases, beginning with Huntingtons disease (HD) and Duchenne muscular dystrophy (DMD), according to a written announcement from the company. The company works to develop new medications to treat neurodegenerative, neurological and psychiatric diseases. As a first step, Rhenovia is building a new biosimulation platform aimed at modeling the complex interplay between biological mechanisms in striatum, the brain region that is most affected in Huntingtons disease. HD is a fatal, rare neurodegenerative disease that is particularly difficult to treat because of the very broad spectrum of symptoms it causes, involving involuntary movement disorders, cognitive deficits and psychiatric manifestations, according to the company. It is exactly because of this variety and often opposite syndromes that the biosimulation approach is probably the most appropriate strategy in the search for new treatments, said Serge Bischoff, president and CEO of Rhenovia. It will allow us to integrate the complexity of the biological systems affected by HD and to address the multifactorial nature of this disease. Rare diseases are defined as those affecting fewer than one in 2,000, 80 percent of which are caused by genetic defects. They also … Continue reading →

Public release date: 19-Mar-2012 [ | E-mail | Share ] Contact: Erin Pope Erin.Pope@NationwideChildrens.org 614-355-0495 Nationwide Children's Hospital Investigators at Nationwide Children's Hospital, working with the DNA Sequencing Core Facility at the University of Utah, have developed an approach to newborn screening (NBS) for the life-threatening genetic disorder, Duchenne muscular dystrophy (DMD) and potentially other muscular dystrophies. As a model for NBS, the approach published online in January in the Annals of Neurology provides evidence that this approach could be implemented if approved by regulatory bodies at a state level or alternatively through the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. DMD is the most common, severe childhood form of muscular dystrophy, inherited as an X-linked recessive disorder. Progressive muscle weakness with loss of ambulation by 12-to-13 years of age is the expected outcome. Heart involvement is significant and may require treatment to avert premature death. On average, patients are diagnosed with DMD at 5 years of age, although parents often notice impaired motor skills at an earlier age. Over the last three decades, creatine kinase (CK) testing on dried blood spots has been attempted as a method for newborn screening for DMD. CK is an enzyme … Continue reading →

Newswise Investigators at Nationwide Childrens Hospital, working with the DNA Sequencing Core Facility at the University of Utah, have developed an approach to newborn screening (NBS) for the life-threatening genetic disorder, Duchenne muscular dystrophy (DMD) and potentially other muscular dystrophies. As a model for NBS, the approach published online in January in the Annals of Neurology provides evidence that this approach could be implemented if approved by regulatory bodies at a state level or alternatively through the Secretarys Advisory Committee on Heritable Disorders in Newborns and Children. DMD is the most common, severe childhood form of muscular dystrophy, inherited as an X-linked recessive disorder. Progressive muscle weakness with loss of ambulation by 12-to-13 years of age is the expected outcome. Heart involvement is significant and may require treatment to avert premature death. On average, patients are diagnosed with DMD at 5 years of age, although parents often notice impaired motor skills at an earlier age. Over the last three decades, creatine kinase (CK) testing on dried blood spots has been attempted as a method for newborn screening for DMD. CK is an enzyme that leaks into the blood from damaged muscle cells; it is markedly elevated in DMD and some … Continue reading →

By:Ivanhoe Broadcast News To view our videos, you need to enable JavaScript. Learn how. install Adobe Flash 9 or above. Install now. Then come back here and refresh the page. Marie Pichaske Children's National Medical Center (202) 476-6029 DMD is genetic, but people without a known family history of the disease can get it, as well. This fatal degenerative condition is caused by an absence or deficiency of dystrophin in striated muscle. Dystophin is a protein that helps keep muscle cells intact. It is also an integral structural component of skeletal and cardiac muscles and connects the contractile apparatus to the sarcolemma. Males are more likely to inherit the disease than women. The sons of females who are carriers of the disease (women with a defective gene but no symptoms themselves) each have a 50 percent chance of having the disease. The daughters each have a 50 percent chance of being carriers. With DMD, boys begin showing signs of muscle weakness as early as three. The disease gradually begins to weaken skeletal, or voluntary, muscles found in the arms, legs, and trunk. Respiratory muscles may also be affected by the boys early teens and in some cases even earlier. Exon … Continue reading →

Funding the Fight Against Duchenne Muscular Dystrophy From patient to research money man. He suffers from Duchenne Muscular Dystrophy and is now funding scientists on the brink of a breakthrough. Video Saving Lives With Salmonella The next big thing in cancer treatment could come from deadly bacteria. Learn how salmonella could help save lives. Video The New Dementia Attacking Athletes The brain child project of a former professional wrestlerhas athletes promising to donate their brains to fight the new dementia. Video Thursday is World Aids Day Thursday is World Aids Day and the White House is displaying a huge red ribbon to honor the day. All that rich, delicious food on your thanksgiving table can trigger an uncomfortable condition. We have tips for avoiding heartburn. Important tips to keep you and your family safe through holiday meals. A first-of its kind pump is helping kids with diabetesjust be kids. See how it works. Lexington's Medical Miracle. The world's first baby born from mixing frozen donor eggs and live sperm. World's first-ever baby born from mixing frozen donor eggs and live sperm. Continue reading here: Cataracts affect millions of people around the globe, and for many of us they will be … Continue reading →

SOURCE: AVI BioPharma, Inc. BOTHELL, WA--(Marketwire - Mar 12, 2012) - AVI BioPharma, Inc. (NASDAQ: AVII), a developer of RNA-based therapeutics, today announced that an abstract describing the Company's Phase IIb study evaluating eteplirsen for the treatment of Duchenne Muscular Dystrophy has been accepted as part of the American Academy of Neurology (AAN) Emerging Science program (formerly known as the Late-Breaking Science program). The brief oral presentation will take place during AAN's 64th Annual Meeting in New Orleans, LA at the Ernest N. Morial Convention Center from April 21 to April 28, 2012. AAN describes Emerging Science Abstracts as works of major scientific importance and representing scientific advances that emerged after the original October 2011 abstract deadline that warrant expedited presentation and publication. AVI's abstract does not contain study results, but a description of the study design and type of findings to be presented at the meeting. "The results of this study represent an important milestone for the development of treatments for Duchenne Muscular Dystrophy and we are pleased that AAN agreed to include this first placebo-controlled study evaluating exon skipping in DMD as one of the 15 Emerging Science Abstracts for the conference this year," said Chris Garabedian, president … Continue reading →

In the fall of 2010, Raul Carranza arrived on the campus of the University of California Los Angeles by way of Eastlake High School and Southwestern College, pursuing a psychology degree. By the following January, he had been forced to withdraw and return to Chula Vista to live at home with his parents and younger brother. Carranza hadnt been kicked out of school due to academic or disciplinary issues. Instead, on his 21st birthday, Medi-Cal cut his services, which included round-the-clock nursing care that he needs because he has muscular dystrophy. Muscular dystrophy is a progressive disease. It gets worse as you get older, Carranza tells me, speaking with the assistance of his afternoon nurse Laura, when I visit his home in early January. Carranza has been diagnosed with multiple forms of muscular dystrophy, a name thats used for a number of genetic diseases that cause muscle weakness and wasting, usually of skeletal muscles but sometimes of muscles that enable breathing. Noneof the textbook definitions of the various dystrophies havehit precisely on the symptoms from which Carranza suffers. Carranza was diagnosed with the disease when he was 2 years old. He says his parents were told he was unlikely to … Continue reading →

ScienceDaily (Mar. 5, 2012) Scientists at The University of Nottingham have used a revolutionary new DNA-reading technology for a research project that could lead to correct genetic diagnosis for muscle-wasting diseases. The technique could be used to offer people with muscular dystrophy, or a related neuromuscular condition, a more accurate prognosis, which would enable them to make more informed choices on life decisions, including family planning. The researchers used a next-generation DNA sequencing machine to investigate the condition of a patient who had previously been misdiagnosed with the wrong type of muscular dystrophy. The research, led by Professor Jane Hewitt in the Universitys School of Biology, was funded by the Muscular Dystrophy Campaign through a PhD studentship for Andreas Leidenroth. Andreas said: Our case study demonstrates how genetic diagnostics will be done in the future. New DNA sequencing machines will be cheap to run, easy to use, fit on a desk and decode an entire human genome in minutes. High-throughout DNA sequencing in the NHS is no longer a question of if, but of when. The biggest challenge will be to develop standardised filtering guidelines so that we can easily extract medically relevant information from these large DNA datasets. The … Continue reading →

Public release date: 1-Mar-2012 [ | E-mail | Share ] Contact: Erin Pope Erin.Pope@NationwideChildrens.org 614-355-0495 Nationwide Children's Hospital In 2010, the Center for Gene Therapy at Nationwide Children's Hospital launched a monthly podcast entitled, "This Month in Muscular Dystrophy," featuring internationally known scientists discussing the latest research in muscular dystrophy and other neuromuscular disorders. Now, these podcasts will be available for users on iTunes and at http://www.NationwideChildrens.org/muscular-dystrophy-podcast. The podcasts are geared toward patients, their families and primary care physicians who take care of patients with neuromuscular diseases. Hosted by Kevin Flanigan, MD, an attending physician in Neurology at Nationwide Children's Hospital, and a principal investigator in the Center for Gene Therapy in The Research Institute at Nationwide Children's, the programs include interviews with authors of recent scientific publications discussing how their work improves understanding of inherited neuromuscular diseases and what their findings might mean for treatment. New programs available for download on iTunes include: Podcasts from previous months have also been uploaded to iTunes and are available for download. "There is a lot of exciting work going on in the field of neuromuscular disease, and for patients and their families, it may be hard to get access to information about … Continue reading →