Category Archives: Muscular Dystrophy Treatment

Washington, January 16 (ANI): In a preliminary study in a canine model of Duchenne muscular dystrophy (DMD), researchers have shown a giant leap using gene therapy to treat muscular dystrophy. Muscular dystrophy occurs when damaged muscle tissue is replaced with fibrous, bony or fatty tissue and loses function. Duchenne muscular dystrophy is the most common type of muscular dystrophy predominantly affecting boys. Patients with DMD have a gene mutation that disrupts the production of dystrophin, a protein essential for muscle cell survival and function. Absence of dystrophin starts a chain reaction that eventually leads to muscle cell degeneration and death. For years, scientists have been working to find the key to restoring dystrophin, but they have faced many challenges. One of the largest hurdles in DMD gene therapy is the large size of the gene. Dystrophin is the largest gene in the human genome, containing approximately 4,000 amino acids. To fit the dystrophin gene into a vehicle that could deliver the gene to the appropriate site in the body, one has to delete 70 percent of the gene. The highly abbreviated gene is known as the "micro-dystrophin" gene. Previous studies suggest that micro-dystrophin can effectively stop muscle disease in mice … Continue reading →

CARLSBAD, Calif., Jan. 15, 2013 /PRNewswire/ --The 4th annual Mitchell Thorp Foundation (MTF) "Whole Lot of Hope" 5K Run/Walk that benefits families whose children suffer from life-threatening illnesses, diseases and disorders, will be held on Saturday, February 2, 2013 at 9 a.m. at Poinsettia Park, Thorp Field in Carlsbad. The event supports several families in San Diego County to endure and soften their heartbreaking journey. Among the children MTF is supporting are Rebecca Edgin, 15, a freshman and cheerleader at Carlsbad High School, who has Acute Lymphoblastic Leukemia; Amanda Barvinchak, 18, who had to forfeit her athletic scholarship, after being diagnosed with bone cancer; Levi Ryska, 3-1/2, who after recovering from a Crainopharyngioma tumor, causing pressure on his brain, is enduring several physical impairments that require ongoing physical and occupational therapies; Connor Dalby, 2, who continues to battle West Syndrome, the worst form of epilepsy that rarely responds to treatment; and the Rico children, Pria, 12, who is suffering with Recurrent Respiratory Papillmatosis, and recently had her 48th surgery on her larynx, and Tanner, 6, who has Duchenne Muscular Dystrophy. "We have been so touched by the outpouring of love from the foundation," said Michelle Edgin, mother. "Now, I can … Continue reading →

Public release date: 15-Jan-2013 [ | E-mail | Share ] Contact: Christian Basi BasiC@missouri.edu 573-882-4430 University of Missouri-Columbia COLUMBIA, Mo.-- Usually, results from a new study help scientists inch their way toward an answer whether they are battling a health problem or are on the verge of a technological breakthrough. Once in a while, those results give them a giant leap forward. In a preliminary study in a canine model of Duchenne muscular dystrophy (DMD), University of Missouri scientists showed exactly such a leap using gene therapy to treat muscular dystrophy. The results of the study will be published in the journal Molecular Therapy on Jan. 15, 2013. Muscular dystrophy occurs when damaged muscle tissue is replaced with fibrous, bony or fatty tissue and loses function. Duchenne muscular dystrophy is the most common type of muscular dystrophy predominantly affecting boys. Patients with DMD have a gene mutation that disrupts the production of dystrophin, a protein essential for muscle cell survival and function. Absence of dystrophin starts a chain reaction that eventually leads to muscle cell degeneration and death. For years, scientists have been working to find the key to restoring dystrophin, but they have faced many challenges. One of the … Continue reading →

Jan. 15, 2013 A new study has found that tamoxifen, a well-known breast cancer drug, can counteract some pathological features in a mouse model of Duchenne muscular dystrophy (DMD). At present, no treatment is known to produce long-term improvement of the symptoms in boys with DMD, a debilitating muscular disorder that is characterized by progressive muscle wasting, respiratory and cardiac impairments, paralysis, and premature death. This study will be published in the February 2013 issue of The American Journal of Pathology. Using the mdx5Cv mouse model of DMD, investigators found that tamoxifen, given orally for more than a year, "caused remarkable improvements of muscle force and of diaphragm and cardiac structure," according to lead author Olivier M. Dorchies, PhD, of the Department of Pharmacology, Geneva-Lausanne School of Pharmaceutical Sciences of the University of Geneva and University of Lausanne. For instance, in the heart, fibrosis was diminished by approximately 50%. In the diaphragm, the muscle of the dystrophic mouse thought to be most like that of human DMD, tamoxifen reduced fibrosis while increasing thickness as well as the number and average diameter of muscle fibers. The net effect was that tamoxifen raised the amount of contractile tissue available for respiration by … Continue reading →

Public release date: 15-Jan-2013 [ | E-mail | Share ] Contact: David Sampson ajpmedia@elsevier.com 215-239-3171 Elsevier Health Sciences Philadelphia, PA, January 15, 2013 A new study has found that tamoxifen, a well-known breast cancer drug, can counteract some pathologic features in a mouse model of Duchenne muscular dystrophy (DMD). At present, no treatment is known to produce long-term improvement of the symptoms in boys with DMD, a debilitating muscular disorder that is characterized by progressive muscle wasting, respiratory and cardiac impairments, paralysis, and premature death. This study will be published in the February 2013 issue of The American Journal of Pathology. Using the mdx5Cv mouse model of DMD, investigators found that tamoxifen, given orally for more than a year, "caused remarkable improvements of muscle force and of diaphragm and cardiac structure," according to lead author Olivier M. Dorchies, PhD, of the Department of Pharmacology, Geneva-Lausanne School of Pharmaceutical Sciences of the University of Geneva and University of Lausanne. For instance, in the heart, fibrosis was diminished by approximately 50%. In the diaphragm, the muscle of the dystrophic mouse thought to be most like that of human DMD, tamoxifen reduced fibrosis while increasing thickness as well as the number and average … Continue reading →

KING OF PRUSSIA, Pa., Jan. 14, 2013 /PRNewswire/ --Committed to improving the quality of life for people with rare and serious diseases, CSL Behring is calling for proposals for the 2013 Interlaken Leadership Awards. Established in 2010, this annual global awards program provides monetary grants and/or product supply to advance medical research and knowledge about the potential role of immunoglobulin (Ig) therapy in the treatment of neurological disorders. "Performing daily activities can be extremely difficult for those living with a neurological disorder, and at times, the condition can even be debilitating," said Jeffrey Baggish, M.D., Director of Medical Affairs, Immunology & Pulmonary at CSL Behring. "We established the Interlaken Leadership Awards to fund innovative research that may improve the quality of life for those diagnosed with a neurological condition." To date, the Interlaken Leadership Awards has provided $2 million in grants to research studying Ig therapy in areas such as neuromyelitis optica (NMO), Duchenne muscular dystrophy (DMD), complex regional pain syndrome (CRPS), acute ischemic stroke, paraneoplastic syndromes, and autoimmune peripheral neuropathies. Proposal Submission Process and EligibilityAny individual actively engaged in clinical or basic research of polyvalent immunoglobulins for neurological conditions is eligible for the Interlaken Leadership Awards. For more information … Continue reading →

By Brian Orelli | More Articles January 11, 2013 | JPMorgan's health care conference is a treasure-trove of information about health care companies. From basic information to fourth quarter sales, even a few deals are signed, sealed, and announced at JPMorgan. But the most interesting -- both entertaining and educational -- part of the meeting happened virtually when attendees and remote observers of the conference piled onto a Twitter hashtag, #jpmpickuplines, scientifically mocking what an attendee might say to pick up someone at the hotel bar. "Best set of data points I've seen all year," tweeted San Francisco Business Times reporter Ron Leuty who started the meme. The top one -- as measured by retweets -- came from Roche's official Genentech Twitter account that tweeted, "Nice antibody. Wanna conjugate?" Educational? The meme is clearly entertaining -- well at least most of them, some got a little raunchy -- and it highlights that investors and companies can have a little fun. Investing may be serious, but it doesn't have to be stuffy. But the list of pickup lines also serves as a nice glossary of terms that every biotech investor should know. Genentech's tweet, for example, refers to the process of … Continue reading →

Sarepta Therapeutics Inc. (SRPT), a developer of an experimental drug for Duchenne muscular dystrophy, may seek advisers to find an overseas partner for the therapy, Chief Executive Officer Christopher Garabedian said. The biotechnology company is talking with more than a dozen drugmakers about a partnership for international sales of eteplirsen, Sareptas medicine for the rare muscle-wasting disease, Garabedian said in an interview at the JPMorgan Chase & Co. health-care conference in San Francisco. Cambridge, Massachusetts-based Sarepta is considering hiring an advisory firm, such as Centerview Partners LLC or JSP Partners, to help with the talks. The company isnt for sale, he said. While successful testing of eteplirsen may make Sarepta, a 32-year-old company with no marketed products, an acquisition target, Garabedian said he wants it to become a rival to large biotechnology companies such as Gilead Sciences Inc. (GILD), the worlds biggest maker of AIDS medicines and Celgene Corp. (CELG), the maker of the $3 billion cancer drug, Revlimid. Im building a team that knows how to create a successful global biopharmaceutical company, Garabedian said. Im hiring people from Genzyme, Gilead, Celgene, Shire, and Vertex. Those people like myself want to work on the next break-out biotech. Duchenne muscular dystrophy … Continue reading →

SAN DIEGO--(BUSINESS WIRE)-- Ligand Pharmaceuticals Incorporated (LGND) announced today that it has received a milestone payment of 620,000 shares of common stock in newly public partner Retrophin, Inc. (RTRX). The milestone arose under the previously executed license agreement for the development and commercialization of Retrophins lead clinical candidate RE-021, formerly known as DARA (a Dual Acting Receptor Antagonist of Angiotensin and Endothelin receptors) and was triggered by the completion of Retrophins merger with Desert Gateway, Inc. and its transition to a publicly traded company. Ligand will record milestone revenue equal to the estimated fair value of the shares received, which will be determined by an independent valuation firm. The shares issued to Ligand represent approximately 7% of Retrophins outstanding capital stock and may be subject to certain trading restrictions. RE-021 is in development for the treatment of focal segmental glomerulosclerosis (FSGS), a rare disease that attacks the kidneys filtering system (glomeruli), causing serious scarring, progressive kidney function degeneration and rapid loss of the kidneys. FSGS is one cause of a serious condition known as Nephrotic Syndrome. An estimated 50,000 patients in the United States suffer from FSGS, with most patients diagnosed as children or young adults. Ligand believes that Retrophin … Continue reading →

Researchers have discovered what could be the first step in preventing the onset of a heart complication that kills one out of every five people suffering from Duchenne muscular dystrophy (DMD). The results were just published in STEM CELLS Translational Medicine. Durham, NC (PRWEB) January 08, 2013 In DMD, the most common form of muscular dystrophy, patients lack a large, rod-like protein called dystrophin located primarily in muscles used for movement and in heart muscle. The dystrophin is part of a group of proteins that acts as an anchor, connecting each muscle cell's structural framework with the lattice of proteins and other molecules outside the cell. Without dystrophin, many of the muscle cells in the heart are damaged, subsequently die and are replaced by connective tissue. Many Duchenne MD patients suffer from dilated cardiomyopathy (DCM), a condition in which the chambers of the heart are enlarged and weakened, explained the studys lead author, Suzanne Berry, Ph.D. As a result the heart cant efficiently pump blood to the body and many patients eventually die. We hypothesized that mesoangioblast stem cells (ADM) found in the walls of large blood vessels, in this case the aorta, would restore dystrophin and therefore alleviate or … Continue reading →