Category Archives: Muscular Dystrophy Treatment

Inadequacies in the care and support system of a devastating neuromuscular disease K. Senthil loves watching television. At his home, there are constant battles with his older sister for the remote, and fights over what show should be watched. His favourites? Cookery shows. Senthil, 16, has muscular dystrophy, a genetic disorder that weakens the muscles that help the body move. Over the course of about 10 years, his leg muscles have become so weakened that he can no longer walk. He uses a wheelchair, and his parents carry him when needed and help settle him in comfortable positions. Just over a year ago, Senthil's older brother Raja passed away because of the disease. Raja was only 18 years old. When the boys were born, there was nothing wrong with them, says their mother, Durga. Raja was in Class II, when he began to complain of leg pain whenever he had to climb stairs. At one point it became so bad that we took him to the Government Rajaji Hospital, where they told us it was muscular dystrophy. They then referred us to other hospitals to confirm the diagnosis. Even after the diagnosis was made, it didn't really sink in. We … Continue reading →

Public release date: 27-Feb-2012 [ | E-mail | Share ] Contact: Graciela Gutierrez ggutierr@bcm.edu 713-798-4710 Baylor College of Medicine HOUSTON (Feb. 27, 2012) ? Antisense oligonucleotides ? short segments of genetic material designed to target specific areas of a gene or chromosome ? that activated an enzyme to "chew up" toxic RNA (ribonucleic acid) could point the way to a treatment for a degenerative muscle disease called myotonic dystrophy, said researchers from Baylor College of Medicine and Isis Pharmaceuticals, Inc., in a report in the journal Proceedings of the National Academy of Sciences. "This is a proof-of-principle therapy that is very effective in cell culture and mice," said Dr. Thomas A. Cooper, professor of pathology and immunology and molecular and cellular biology at BCM and the report's corresponding author. "The treatment will have to be refined to deliver systemically in people with myotonic dystrophy." Myotonic dystrophy is the most common muscular disease in adults, affecting mainly the skeletal muscles, heart and central nervous system. It occurs because of a mutation that causes numerous repeats of three letters of the genetic code (CTG) in a gene called DMPK. RNA is made as a step in the cell's production of the protein … Continue reading →

Talk to us about where we are right now with personalized medicine. Dr. Hoffman: Personalized medicine there's different embodiments or sort of definitions to it. There's some in current use particularly with regards to drugs. So if you take some certain drugs certain people respond very poorly to. Based on how we metabolize them or don't metabolize them, how long the drug stays in the body. So there are now genetic tests that you can make sure you're giving the right amount of drug to the right patients. So that's a from of personalized medicine and that's been around for a couple of years. It's pretty tough it's only a couple of drugs that we really understand enough but it's already underway, particularly in chemotherapy, it's one of the key areas. Personalized medicine more broadly and in terms of drug development you can get more specific that a drug is designed specifically for a patient and even developed specifically for a patient. And that's sort of more a forward thinking definition of drug development is what we're working on here and is now heading in to clinical trials, or in clinical trials. So it is actually advancing quite quickly but … Continue reading →

BACKGROUND: Duchenne muscular dystrophy (DMD) is an inherited disorder that involves rapidly worsening muscle weakness. This severe, debilitating and ultimately fatal disease is one of the most frequent genetic conditions affecting approximately 1 in 3500 male births worldwide. Affected boys are usually wheelchair-bound by their teenage years. By their late teens or twenties, the boys usually experience respiratory failure or cardiomyopathy often times resulting in death. SOURCE: (www.ncbi.nlm.nih.gov/pubmedhealth); (www.webmd.com); (www.plosone.org/)   CAUSES: 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. SOURCE:  (www.plosone.org/) THINGS YOU DIDN'T KNOW: Males are more likely to inherit the disease than are women. The sons of females who are carriers of the disease (women with a defective gene but no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers. SOURCE: (www.ncbi.nlm.nih.gov/pubmedhealth) DETECTIONS: With DMD, boys begin showing signs of … Continue reading →

On the Tuesday before Christmas, Jarrett “Jett” McSherry, 16, traded a few friendly barbs with his older sister, played Modern Warfare 3 on his Xbox, and watched some of his favorite shows on Comedy Central. Christine McSherry of Pembroke, Jett’s mother, is determined to make sure her son can enjoy these lighthearted moments for years to come. Christine and her husband, Stephen, started the Jett Foundation in 2001 after Jett was diagnosed with Duchenne muscular dystrophy (DMD), a common and lethal genetic disorder. DMD, for which there is no known cure, progressively destroys a person’s muscle tissue. It affects one in every 3,500 males. Most children with the disease are confined to a wheelchair by age 12 and don’t live past their late teens. Christine has her own page in the new book “Boston, Inspirational Women,” which highlights some of the Bay State’s most recognizable and influential women. McSherry sees this as another networking tool to raise the Jett Foundation’s profile. “This is a vehicle to save my son’s life, so I’m pulling out all the stops,” said McSherry, who has helped raise more than $2 million to fund DMD research and increase awareness of the disease. The foundation helped … Continue reading →

According to the Rare Clinical Diseases Research Network (RDCRN) website, the purpose of the RDCRN is to increase collaboration between the research and treatment efforts of the scientists and clinicians working with many different types of rare disease. The RDCRN receives funding from the National Institutes of Health (NIH) and Office for Rare Diseases Research in the U.S.A. The RDCRN also works to improve the availability of information and treatment to patients. By registering with the RDCRN contact registry, individuals will receive disease-specific information via email regarding open recruitment for clinical research, new clinical research sites, and activities related to raising awareness of specific neuromuscular diseases and advocacy efforts. The website also contains information regarding each of the included diseases. The RCDRN originally included five research consortia. In 2009, the Network received funding to expand the network to include an additional 14 consortia covering 95 rare diseases. To be considered a ?rare disease? by the RCDRN, the disease must affect less than 200,000 individuals in the U.S.A. A number of the neuromuscular diseases meet criteria for inclusion as a rare disease and are represented by the RCDRN. These include the mitochondrial diseases, inherited neuropathies including Charcot Marie Tooth disease, episodic … Continue reading →

BOTHELL, WA--(Marketwire -02/23/12)- AVI BioPharma, Inc. (NASDAQ: AVII - News), a developer of RNA-based therapeutics, will report fourth quarter and full year 2011 financial results after the NASDAQ Global Market closes on Thursday, March 1, 2012. Subsequently, at 5:00 p.m., Eastern Time (2:00 p.m., Pacific Time), Chris Garabedian, AVI's president and CEO, will host a conference call to discuss fourth quarter and full year 2011 financial results and to provide a corporate update. The conference call may be accessed by dialing 866.510.0676 for domestic callers and 617.597.5361 for international callers. The passcode for the call is 79552457. Please specify to the operator that you would like to join the "AVI BioPharma fourth quarter and full year 2011 earnings call." The conference call will be webcast live under the events section of AVI's website at http://www.avibio.com and will be archived there following the call for 90 days. Please connect to AVI's website several minutes prior to the start of the broadcast to ensure adequate time for any software download that may be necessary. About AVI BioPharma AVI BioPharma is focused on the discovery and development of novel RNA-based therapeutics for rare and infectious diseases, as well as other select disease targets. … Continue reading →

ScienceDaily (Feb. 22, 2012) — While RNA is an appealing drug target, small molecules that can actually affect its function have rarely been found. But now scientists from the Florida campus of The Scripps Research Institute have for the first time designed a series of small molecules that act against an RNA defect directly responsible for the most common form of adult-onset muscular dystrophy. In two related studies published recently in online-before-print editions of Journal of the American Chemical Society and ACS Chemical Biology, the scientists show that these novel compounds significantly improve a number of biological defects associated with myotonic dystrophy type 1 in both cell culture and animal models. "Our compounds attack the root cause of the disease and they improve defects in animal models," said Scripps Research Associate Professor Matthew Disney, PhD. "This represents a significant advance in rational design of compounds targeting RNA. The work not only opens up potential therapies for this type of muscular dystrophy, but also paves the way for RNA-targeted therapeutics in general." Myotonic dystrophy type 1 involves a type of RNA defect known as a "triplet repeat," a series of three nucleotides repeated more times than normal in an individual's genetic … Continue reading →

BOTHELL, WA--(Marketwire -02/22/12)- AVI BioPharma, Inc. (NASDAQ: AVII - News), a developer of RNA-based therapeutics, announced today that it received a letter from the listing qualifications department staff of The NASDAQ Stock Market LLC, stating that the Company has regained compliance with NASDAQ's minimum $1.00 per share bid price requirement. The letter received noted that for 10 consecutive business days, from February 6, 2012 to February 17, 2012, the closing bid price of the Company's common stock was $1.00 per share or greater. Accordingly, the Company has regained compliance with Listing Rule 5450(a)(1) and the matter is closed. About AVI BioPharma AVI BioPharma is focused on the discovery and development of novel RNA-based therapeutics for rare and infectious diseases, as well as other select disease targets. Applying pioneering technologies developed and optimized by AVI, the Company is able to target a broad range of diseases and disorders through distinct RNA-based mechanisms of action. Unlike other RNA-based approaches, AVI's technologies can be used to directly target both messenger RNA (mRNA) and precursor messenger RNA (pre-mRNA) to either down-regulate (inhibit) or up-regulate (promote) the expression of targeted genes or proteins. By leveraging its highly differentiated RNA-based technology platform, AVI has built a … Continue reading →

SAN DIEGO & NEW YORK--(BUSINESS WIRE)-- Ligand Pharmaceuticals Incorporated (NASDAQ: LGND - News) and Retrophin, LLC announced that the companies have entered into an agreement in which Ligand has licensed rights to DARA (a Dual Acting Receptor Antagonist of Angiotensin and Endothelin receptors) to Retrophin. Under the terms of the agreement, Ligand will receive a net upfront payment of $1 million, and may receive, net of amounts owed to third parties, over $75 million in milestone payments based on clinical and regulatory progress as well as 9% in royalties on potential future worldwide sales by Retrophin. “DARA has the promise to be a significant medicine, and we are excited to partner with Retrophin to advance the development of the program and bring it closer to patients in need,” said John Higgins, President and Chief Executive Officer of Ligand Pharmaceuticals. “This is an attractive deal for Ligand and our shareholders. We have partnered DARA with a team that has great credentials, is highly motivated to advance the program and has a compelling development plan. This is another valuable asset in our late-stage portfolio.” Retrophin intends to develop DARA for orphan indications of severe kidney diseases including Focal Segmental Glomerulosclerosis (FSGS) as well as conduct proof-of-concept studies … Continue reading →