Category Archives: Muscular Dystrophy Treatment

Symptoms of a form of muscular dystrophyhave been reversed in mice, a research team including scientists from Isis Pharmaceuticals Inc.reported Wednesday. Chemicals injected into the mice rapidly reduced levels of toxic molecules that cause the disease, the scientists said. They reported their findings in the scientific journal Nature. It will take much more research before the treatment can be tried in humans, said an accompanying news article in Nature. "However, the path to success now seems clearly visible," the article stated. The chemicals work through Isis' gene-blocking antisense technology, which stops production of disease-causing proteins. The technology represents Isis' bid to become a powerhouse in discovering new drugs. Antisense drugs can theoretically work on a vast number of diseases. Shares of Isis, which is based in Carlsbad, closed Wednesday at $11.80, a loss of 32 cents for the day. That's still about 63 percent higher than Isis' close of $7.25 on Jan. 3, the first trading day of 2012. The team included Frank Bennett, senior vice president of research at Isis, and two other Isis scientists. Others are scientists at the University of Rochester Medical Center andGenzyme.Charles Thornton, a University of Rochester neurologist, was senior author. The disease is called … Continue reading →

Public release date: 1-Aug-2012 [ | E-mail | Share ] Contact: Emily Boynton emily_boynton@urmc.rochester.edu 585-273-1757 University of Rochester Medical Center Scientists have reversed symptoms of myotonic muscular dystrophy in mice by eliminating a buildup of toxic RNA in muscle cells. The work, carried out by scientists at the University of Rochester Medical Center, Isis Pharmaceuticals Inc. and Genzyme, is published in the August 2 issue of Nature. After experimental antisense compounds were administered to mice twice a week for four weeks, symptoms of the disease were reduced for up to one year a significant portion of a mouse's lifespan. The investigators say that while the work is an encouraging step forward against myotonic dystrophy, one of the most common forms of muscular dystrophy, it's too soon to know whether the approach will work in patients. But they are cautiously optimistic, noting that the compound is extremely effective at reversing the disease whose genetic underpinnings make it particularly vulnerable to an antisense approach in a mouse model. "These results give us strong encouragement about the possibility of developing a treatment that could fundamentally alter the disease. It's an important step on a long path," said senior author Charles Thornton, M.D., a … Continue reading →

WESTOVER - Josh Hancock and his mother moved to West Virginia to be closer to family. What they never expected is that living here would prevent Josh from getting the very specific care he needs. Recently, his mother suffered a back injury leaving Josh without his main caregiver and the Hancock's wondering, what now? "She's taken care of me since I was born basically and I just was thinking, what's going to happen to me?" questioned Hancock. Hancock, 38, has Duchenne muscular dystrophy. He uses a ventilator with a tracheotomy to breathe 24 hours a day. His mother's back injury a few weeks ago has forced the Hancock's to find alternative ways Josh can be taken care of. "There were no nursing homes in West Virginia that provide care for someone with a ventilator," he explained. While his mother was in the hospital, Josh's sister and three children helped care for him. Continue reading here: WV Man with Muscular Dystrophy Struggles Due to State Laws … Continue reading →

Newswise Rapamycin, an immunosuppressant drug used in a variety of disease indications and under study in aging research labs around the world, improved function and extended survival in mice suffering from a genetic mutation which leads to dilated cardiomyopathy (DCM) and rare muscular dystrophies in humans. There are currently no effective treatment for the diseases, which include Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy. The familial form of DCM often leads to sudden heart failure and death when those affected reach their 40s and 50s. In research published in the July 25, 2012 online edition of Science Translational Medicine, scientists from the Buck Institute and other organizations focused on mutations in the gene LMNA, which produces A-type lamins. Mutations in this gene are associated with at least 13 diseases, with DCM among the most common. DCM accounts for 60 percent of all cardiomyopathy cases. LMNA mutations may account for up to one-third of patients that are diagnosed as having DCM and conduction disease. DCM causes a thinning of the left ventricle and loss of cardiac function. The study showed that deletion of the LMNA gene led to ramped up activity in the molecular pathway mTOR (mammalian target of rapamycin) and … Continue reading →

Public release date: 25-Jul-2012 [ | E-mail | Share ] Contact: Kris Rebillot krebillot@buckinstitute.org 415-209-2080 Buck Institute for Age Research Rapamycin, an immunosuppressant drug used in a variety of disease indications and under study in aging research labs around the world, improved function and extended survival in mice suffering from a genetic mutation which leads to dilated cardiomyopathy (DCM) and rare muscular dystrophies in humans. There are currently no effective treatment for the diseases, which include Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy. The familial form of DCM often leads to sudden heart failure and death when those affected reach their 40's and 50's. In research published in the July 25, 2012 online edition of Science Translational Medicine, scientists from the Buck Institute and other organizations focused on mutations in the gene LMNA, which produces A-type lamins. Mutations in this gene are associated with at least 13 diseases, with DCM among the most common. DCM accounts for 60 percent of all cardiomyopathy cases. LMNA mutations may account for up to one-third of patients that are diagnosed as having DCM and conduction disease. DCM causes a thinning of the left ventricle and loss of cardiac function. The study showed that deletion … Continue reading →

Public release date: 25-Jul-2012 [ | E-mail | Share ] Contact: Mark Michaud mark_michaud@urmc.rochester.edu 585-273-4790 University of Rochester Medical Center Complex, multi-system diseases like myotonic dystrophy the most common adult form of muscular dystrophy require physicians and patients to identify which symptoms impact quality of life and, consequently, what treatments should take priority. However, a new study out this month in the journal Neurology reveals that there is often a disconnect between the two groups over which symptoms are more important, a phenomenon that not only impacts care but also the direction of research into new therapies. "In order to design better therapies we must first develop a clear understanding of what patients think are the key mental and physical burdens of this disease," said University of Rochester Medical Center (URMC) neurologist Chad Heatwole, M.D., lead author of the study. "It is clear from this study that, in the case of myotonic dystrophy, researchers have not always been concentrating on the symptoms that are most important to the patient." Myotonic dystrophy has been characterized as one of the most diverse and complex genetic diseases with a wide range of symptoms ranging from fatigue, muscle weakness, cognitive impairment, depression, difficulty sleeping, … Continue reading →

(RTTNews.com) - Sarepta Therapeutics (SRPT) announced that treatment with its exon-skipping compound, eteplirsen, achieved a significant clinical benefit on the primary clinical outcome, the 6-minute walk test or 6MWT, over a placebo/delayed treatment cohort in a Phase IIb study in Duchenne muscular dystrophy or DMD patients. Eteplirsen administered once weekly at 50mg/kg over 36 weeks led to a 69.4 meter benefit compared to patients who received placebo for 24 weeks followed by 12 weeks of treatment with eteplirsen in the open-label extension. In the predefined prospective analysis of the study's intent-to-treat population on the primary clinical outcome measure, the change in 6MWT distance from baseline, eteplirsen-treated patients who received 50mg/kg of the drug weekly showed a decline of 8.7 meters in distance walked from baseline, while patients who received placebo/delayed-eteplirsen treatment for 36 weeks showed a decline of 78.0 meters from baseline, for a statistically significant treatment benefit of 69.4 meters over 36 weeks. There was no statistically significant difference between the cohort of patients who received 30mg/kg weekly of eteplirsen and the placebo/delayed treatment cohort. For comments and feedback: contact editorial@rttnews.com http://www.rttnews.com Read the original here: Sarepta Reports Significant Clinical Benefit With Eteplirsen In Phase IIb Trial … Continue reading →

NEWPORT BEACH, Calif.--(BUSINESS WIRE)-- CureDuchenne, a nonprofit that raises awareness and funds research to find a cure for Duchenne muscular dystrophy, is pleased by todays announcement by Sarepta Therapeutics (formerly AVI BioPharma) that its exon-skipping compound, eteplirsen, achieved a significant clinical benefit in a Phase IIb trial in Duchenne patients. CureDuchenne, along with Children National Medical Center in Washington, DC and the Foundation to Eradicate Duchenne, provided funding in 2010 for this research to progress into human clinical trials. This is a milestone for the company and patients alike. It demonstrated for the first time that eteplirsen achieved a highly significant clinical benefit on the 6-minute walk test, over a placebo/delayed treatment cohort in a Phase IIb trial in DMD patients. Eteplirsen was administered once weekly at 50mg/kg over 36 weeks, and patients on treatment demonstrated a 69.4 meter benefit (227 feet benefit) compared to those who received placebo/delayed treatment. The drug was well tolerated; there were no treatment-related adverse events, no serious adverse events and no discontinuations. The next milestone is at 48 weeks, and the data is expected in October. It will include analysis of dystrophin levels from muscle biopsies in addition to the clinical outcome measures. If … Continue reading →

ANN ARBOR, MI--(Marketwire -07/19/12)- Phrixus Pharmaceuticals, Inc., a specialty pharmaceutical company focused on innovative therapies for Duchenne muscular dystrophy (DMD) and heart failure, today announced that it has completed preclinical studies in mdx mice that demonstrate a beneficial effect of Carmeseal on the diaphragm, the skeletal muscle that supports respiration, after subcutaneous dosing as low as 3 mg/kg per day. Phrixus evaluated the effect of Carmeseal in mdx mice, the most widely used animal model of DMD, in a number of dosing regimens ranging from daily to weekly dosing, and at doses ranging from 3 to 300 mg/kg per day, all administered subcutaneously. Mice were aged to seven months and then dosed for five months to allow for full development of the phenotype. The effect of Carmeseal was evaluated by whole body plethsymography (WBP), an established method to understand the impact of drugs on respiratory function. These studies indicate that Carmeseal has a maximal effect on tidal volume, an important measure of respiratory performance, at doses as low as 3 mg/kg dosed once-a-day. This dosing would translate into a daily dose for each patient of 105 mg based on a 35 kg pediatric patient compared to bolus intravenous dosing of … Continue reading →

ANN ARBOR, MI--(Marketwire -07/19/12)- Phrixus Pharmaceuticals, Inc., a specialty pharmaceutical company focused on innovative therapies for Duchenne muscular dystrophy (DMD) and heart failure, today announced that it has received $67,374 in sponsored research funding from a number of DMD parent organization through the DuchenneDashboard. This funding will allow Phrixus to extend its recent finding that Carmeseal, its lead product candidate, can be delivered subcutaneously at very low dose to treat respiratory aspects of DMD to cardiac indications as well. Phrixus and its collaborators had previously demonstrated that Carmeseal is effective in preclinical cardiac models after intravenous delivery. "We are excited to be collaborating with Cath Jayasuriya, Founder and President of Coalition Duchenne, and the other parent organizations through the DuchenneDashboard. The Dashboard provides an optimal way for us to engage with parents and to fund this important development work," said Thomas A. Collet, president and CEO. The organizations that contributed through the DuchenneDashboard were: Coalition Duchenne, Hope for Gus, JB Keys, Jett Foundation, Michael's Cause, Ryan's Quest, Suneel's Light, Team Joseph, Two Smiles One Hope and the Zack Heger Foundation. DMD is the most devastating of the muscular dystrophies. No drug is approved for its treatment. It is a genetic … Continue reading →