Category Archives: Muscular Dystrophy Treatment

Public release date: 16-Jul-2012 [ | E-mail | Share ] Contact: Charlotte Hsu chsu22@buffalo.edu 716-645-4655 University at Buffalo BUFFALO, N.Y. -- While Spider-Man is capturing the imagination of theatergoers, real-life spider men in Upstate New York are working intently to save a young boy's life. It all began in 2009, when Jeff Harvey, a stockbroker from the Buffalo suburbs, discovered that his grandson, JB, had Duchenne muscular dystrophy. The disease is fatal. It strikes only boys, causing their muscles to waste away. Hoping to help his grandson, Harvey searched Google for promising muscular dystrophy treatments and, in a moment of serendipity, stumbled upon University at Buffalo scientist Frederick Sachs, PhD. Sachs was a professor of physiology and biophysics who had been studying the medical benefits of venom. In the venom of the Chilean rose tarantula, he and his colleagues discovered a protein that held promise for keeping muscular dystrophy at bay. Specifically, the protein helped stop muscle cells from deteriorating. Within months of getting in touch, Harvey and Sachs co-founded Tonus Therapeutics, a pharmaceutical company devoted to developing the protein as a drug. Though the treatment has yet to be tested in humans, it has helped dystrophic mice gain strength … Continue reading →

Newswise BUFFALO, N.Y. -- While Spider-Man is capturing the imagination of theatergoers, real-life spider men in Upstate New York are working intently to save a young boys life. It all began in 2009, when Jeff Harvey, a stockbroker from the Buffalo suburbs, discovered that his grandson, JB, had Duchenne muscular dystrophy. The disease is fatal. It strikes only boys, causing their muscles to waste away. Hoping to help his grandson, Harvey searched Google for promising muscular dystrophy treatments and, in a moment of serendipity, stumbled upon University at Buffalo scientist Frederick Sachs, PhD. Sachs was a professor of physiology and biophysics who had been studying the medical benefits of venom. In the venom of the Chilean rose tarantula, he and his colleagues discovered a protein that held promise for keeping muscular dystrophy at bay. Specifically, the protein helped stop muscle cells from deteriorating. Within months of getting in touch, Harvey and Sachs co-founded Tonus Therapeutics, a pharmaceutical company devoted to developing the protein as a drug. Though the treatment has yet to be tested in humans, it has helped dystrophic mice gain strength in preliminary experiments. The therapy is not a cure. But if it works in humans, it could … Continue reading →

ScienceDaily (July 16, 2012) While Spider-Man is capturing the imagination of theatergoers, real-life spider men in Upstate New York are working intently to save a young boy's life. It all began in 2009, when Jeff Harvey, a stockbroker from the Buffalo suburbs, discovered that his grandson, JB, had Duchenne muscular dystrophy. The disease is fatal. It strikes only boys, causing their muscles to waste away. Hoping to help his grandson, Harvey searched Google for promising muscular dystrophy treatments and, in a moment of serendipity, stumbled upon University at Buffalo scientist Frederick Sachs, PhD. Sachs was a professor of physiology and biophysics who had been studying the medical benefits of venom. In the venom of the Chilean rose tarantula, he and his colleagues discovered a protein that held promise for keeping muscular dystrophy at bay. Specifically, the protein helped stop muscle cells from deteriorating. Within months of getting in touch, Harvey and Sachs co-founded Tonus Therapeutics, a pharmaceutical company devoted to developing the protein as a drug. Though the treatment has yet to be tested in humans, it has helped dystrophic mice gain strength in preliminary experiments. The therapy is not a cure. But if it works in humans, it could … Continue reading →

ScienceDaily (July 12, 2012) Millions of people suffering from multiple sclerosis, Parkinson's, muscular dystrophy, spinal cord injuries or amputees could soon interact with their computers and surroundings using just their eyes, thanks to a new device that costs less than 40. Composed from off-the-shelf materials, the new device can work out exactly where a person is looking by tracking their eye movements, allowing them to control a cursor on a screen just like a normal computer mouse. The technology comprises an eye-tracking device and "smart" software that have been presented July 13, in IOP Publishing's Journal of Neural Engineering. Researchers from Imperial College London demonstrated its functionality by getting a group of people to play the classic computer game Pong without any kind of handset. In addition users were able to browse the web and write emails "hands-off." A video of somebody using the device to play Pong can be viewed here (https://www.youtube.com/watch?v=zapK5wvYU84) The GT3D device is made up of two fast video game console cameras, costing less than 20 each, that are attached, outside of the line of vision, to a pair of glasses that cost just 3. The cameras constantly take pictures of the eye, working out where … Continue reading →

ScienceDaily (July 9, 2012) The challenge of treating patients with genetic disorders in which a single mutated gene is simply too large to be replaced using traditional gene therapy techniques may soon be a thing of the past. A Nationwide Children's Hospital study describes a new gene therapy approach capable of delivering full-length versions of large genes and improving skeletal muscle function. The strategy may hold new hope for treating dysferlinopathies and other muscular dystrophies. A group of untreatable muscle disorders known as dysferlinopathies are caused by mutations in the dysferlin gene. Patients with these disorders, including limb girdle muscular dystrophy type 2B, are typically diagnosed in their early twenties. Approximately one-third will become wheelchair dependent by their mid-30s. Gene therapy using adeno-associated virus (AAV) to deliver genes to cells has been pursued as an option for some patients with muscular dystrophy. However, AAV's packaging limitations have served as obstacles in using gene therapy to deliver large genes like dysferlin. Scientists in the past have attempted to work around AAV's packaging limitations by inserting a small version of large genes into the viral vector to induce gene expression. Some have also used more than one viral vector at a time … Continue reading →

WESTON, Mass. & CARLSBAD, Calif.--(BUSINESS WIRE)-- Biogen Idec (BIIB) and Isis Pharmaceuticals, Inc. (ISIS) today announced that they have entered into an exclusive, worldwide option and collaboration agreement under which the companies will develop and commercialize a novel antisense drug for the treatment of myotonic dystrophy type 1 (DM1), which is also known as Steinert disease. DM1, the most common form of muscular dystrophy in adults, is a genetic neuromuscular disease characterized by progressive muscle atrophy, weakness and disabling muscle spasms. It is caused by a genetic defect in the dystrophia myotonica-protein kinase (DMPK) gene in which a sequence of three nucleotides repeats extensively, creating an abnormally long toxic RNA, which accumulates in the cell and prevents the production of proteins needed for normal cellular function. Isis DM1 antisense program is being developed to correct the underlying genetic defect that causes DM1. Isis will receive an upfront payment of $12 million and is responsible for the discovery of a lead antisense drug candidate targeting DMPK for the treatment of DM1. Isis is eligible to receive up to $59 million in milestone payments associated with the clinical development of the DMPK-targeting drug prior to licensing. Biogen Idec has the option to … Continue reading →

By Chris Reidy, Globe Staff Biogen Idec Inc., a global biotechnology company headquartered in Weston, said Friday that it is entering another collaboration with Isis Pharmaceuticals Inc., with this collaboration focusing on an experimental drug for myotonic dystrophy, a debilitating neuromuscular disease. In January, the two companies announced plans to work together on a potential treatment for spinal muscular atrophy. Fridays agreement calls for California-based Isis to receive an upfront payment of $12 million, the two companies said in a press release. Under the agreement, Isis is responsible for the discovery of a lead antisense drug candidate for the treatment of myotonic dystrophy type 1, which is also known as Steinert disease. Isis could receive up to another $200 million in a license fee and regulatory milestone payments as well as double-digit royalties on sales of the drug. Isis will be responsible for global development of the drug through the completion of Phase 2 clinical trials, with Biogen Idec providing advice on the clinical trial design and regulatory strategy, the companies said in a press release. If Biogen Idec exercises its option under the agreement, it will assume global development, regulatory, and commercialization responsibilities. Biogen Idec said the collaboration fits … Continue reading →

Editor's Choice Main Category: Muscular Dystrophy / ALS Also Included In: Transplants / Organ Donations Article Date: 29 Jun 2012 - 11:00 PDT Current ratings for: Stem Cells From Muscular Dystrophy Patients Transplanted Into Mice A new study published in Science Translational Medicine reveals that researchers have, for the first time, managed to turn fibroblast cells, i.e. common cells within connective tissue, from muscular dystrophy patients into stem cells and subsequently changed these cells into muscle precursor cells. After modifying the muscle precursor cells genetically, the researchers transplanted them into mice. In future, this new technique could be used in order to treat patients with the rare condition of limb-girdle muscular dystrophy, which primarily affects the shoulders and hips, and maybe other types of muscular dystrophies. The method was initially developed in Milan at the San Raffaele Scientific Institute and was completed at UCL. Muscular dystrophy is a genetic disorder, which typically affects skeletal muscles. The condition leads to severely impaired mobility and can, in severe cases result in respiratory and cardiac dysfunction. At present, there is no effective treatment for the condition. A number of new potential therapies, including cell therapy, are entering clinical trials. The scientists of this … Continue reading →

ScienceDaily (June 27, 2012) Scientists at UCLA have identified a new compound that could treat certain types of genetic disorders in muscles. It is a big first step in what they hope will lead to human clinical trials for Duchenne muscular dystrophy. Duchenne muscular dystrophy, or DMD, is a degenerative muscle disease that affects boys almost exclusively. It involves the progressive degeneration of voluntary and cardiac muscles, severely limiting the life span of sufferers. In a new study, senior author Carmen Bertoni, an assistant professor in the UCLA Department of Neurology, first author Refik Kayali, a postgraduate fellow in Bertoni's lab, and their colleagues demonstrate the efficacy of a new compound known as RTC13, which suppresses so-called "nonsense" mutations in a mouse model of DMD. The findings appear in the current online edition of the journal Human Molecular Genetics. "We are excited about these new findings because they represent a major step toward the development of a drug that could potentially treat this devastating disease in humans," Bertoni said. "We knew that the compounds were effective in cells isolated from the mouse model for DMD, but we did not know how they would behave when administered in a living organism." … Continue reading →

ScienceDaily (June 27, 2012) Stem cells from patients with a rare form of muscular dystrophy have been successfully transplanted into mice affected by the same form of dystrophy, according to a new study published June 27 in Science Translational Medicine. For the first time, scientists have turned muscular dystrophy patients' fibroblast cells (common cells found in connective tissue) into stem cells and then differentiated them into muscle precursor cells. The muscle cells were then genetically modified and transplanted into mice. The new technique, which was initially developed at the San Raffaele Scientific Institute of Milan and completed at UCL, could be used in the future for treating patients with limb-girdle muscular dystrophy (a rare form in which the shoulders and hips are primarily affected) and, possibly, other forms of muscular dystrophies. Muscular dystrophies are genetic disorders primarily affecting skeletal muscle that result in greatly impaired mobility and, in severe cases, respiratory and cardiac dysfunction. There is no effective treatment, although several new approaches are entering clinical testing including cell therapy. In this study, scientists focused on genetically modifying a type of cell called a mesoangioblast, which is derived from blood vessels and has been shown in previous studies to have … Continue reading →