Category Archives: Muscular Dystrophy Treatment

Researchers from the University of Michigan are investigating a possible way to treat muscular dystrophy, which directly targets muscle repair instead of the underlying genetic defect that leads to the disease. The research team, led by Haoxing Xu, PhD, discovered that mice missing TRPML1, a critical calcium channel inside the cell, showed similar muscle defects as those present in patients with muscular dystrophy, according to a UM news release. Mutations in certain proteins, typically the protein dystrophin, can cause this condition in humans as well as mice. Researchers increased the activity of the calcium channel in the muscular dystrophic mice, which improved muscle membrane repair and restored muscle function. Xu says, The hope is that the same calcium channel will work in people with muscular dystrophy. Though these mice did not have the defect in dystrophin, they still developed muscular dystrophy-like muscle characteristics, as indicated on the UM news release. The UM news release notes that while the treatment in mice using a gene therapy approach involved a viral carrier to insert extra TRPML1 channels in muscle, Xu says his team has recently discovered a drug that can activate this calcium channel. This drug might provide a similar boost to … Continue reading →

Lenoir County firefighters have made the most out of two fundraisers this year. On May 13, the union raised $19,688 in its St. Baldricks fundraiser at East Coast Wings for child cancer awareness and treatment. Then earlier this month, firefighters in several different units combined to raise $9,429.49 in a Fill The Boot campaign for the Muscular Dystrophy Association. Collectively, $29,117.49 was raised for the two charities. Coastal Carolina MDA fundraising coordinator Elizabeth Welborn said it was the highest total ever accumulated by the Lenoir County firefighters, as well as the greatest amount of volunteer firefighters participating. This was our 60th anniversary working with firefighters and we have done plenty of work with the Kinston department, Welborn said. Kinston raised $6,441.43, which is about $1,400 more than last year. This time around, you had Deep Run and Pink Hill helping out Kinston and last week, Sandy Bottom and North Lenoir fire departments had their own Fill The Boot event. Weve never had everyone do it at once, which has been wonderful. Jean Culbreth, organizer of the Kinston fire department union, said she had been appreciative of the firefighters work ethic, especially with the inaugural St. Baldricks event. I cant tell … Continue reading →

BioBlast Pharma Ltd. (ORPN: Quote), on Wednesday, announced positive preclinical and clinical pharmacokinetic data on Cabaletta, its drug candidate for patients suffering from oculopharyngeal muscular dystrophy. The company also announced that according to initial interim safety and tolerability analysis, there were no drug related adverse events in patients in an ongoing phase 2/3 study evaluating Cabaletta in treatment of Oculopharyngeal Muscular Dystrophy, dubbed HOPEMD. ORPN closed Wednesday's trading at $8.60, up 1.18%. Concert Pharmaceuticals Inc. (CNCE: Quote) has initiated a phase 1 clinical trial of CTP-730 in healthy subjects. CTP-730 is a novel product candidate that is being developed for the treatment of inflammatory diseases under the company's strategic collaboration with Celgene Corp. (CELG: Quote). The phase I study is designed to enroll up to 40 healthy subjects and is expected to be completed in 2015. CNCE closed Wednesday's trading at $13.79, up 5.27%. Eagle Pharmaceuticals Inc. (EGRX: Quote) announced that Cephalon Inc., a subsidiary of Teva Pharmaceutical Industries Ltd. (TEVA: Quote), has moved to dismiss with prejudice its first lawsuit, filed last October, alleging that Eagle's tentatively approved bendamustine hydrochloride injection infusion product infringes one of its patents. However, a second lawsuit which alleges that Eagle's bendamustine product infringes … Continue reading →

PUBLIC RELEASE DATE: 15-Sep-2014 Contact: Ekaterina Pesheva epeshev1@jhmi.edu 410-502-9433 Johns Hopkins Medicine @HopkinsMedNews The timing of a toddler's first steps is an important developmental milestone, but a slight delay in walking is typically not a cause of concern by itself. Now a duo of Johns Hopkins researchers has found that when walking and cognitive delays occur in concert, the combination could comprise the earliest of signals heralding a rare but devastating disorder known as Duchenne muscular dystrophy (DMD). The study, published ahead of print in The Journal of Pediatrics and conducted by a medical student and a pediatric neurologist, reveals that delays in the onset of walking which should occur between 9 and 16 months of age are common among boys with DMD and often happen alongside cognitive delays. That combination, the investigators say, can give pediatricians a critical early diagnostic clue and tip them off to the presence of DMD. "Our review of patient records shows that delayed walking along with cognitive delays represents an ominous combination that should prompt pediatricians to conduct further testing and could speed up diagnosis and treatment," says Kara Mirski, a fourth-year medical student at the Johns Hopkins University School of Medicine. "Earlier diagnosis … Continue reading →

Released: 10-Sep-2014 11:30 AM EDT Embargo expired: 14-Sep-2014 1:00 PM EDT Source Newsroom: University of Michigan Contact Information Available for logged-in reporters only Newswise ANN ARBOR, Mich.---A potential way to treat muscular dystrophy directly targets muscle repair instead of the underlying genetic defect that usually leads to the disease. Muscular dystrophies are a group of muscle diseases characterized by skeletal muscle wasting and weakness. Mutations in certain proteins, most commonly the protein dystrophin, cause muscular dystrophy in humans and also in mice. A University of Michigan team led by cell biologist Haoxing Xu, discovered that mice missing a critical calcium channel inside the cell, called TRPML1, showed similar muscle defects as those present in muscular dystrophy patients. Though these mice did not have the defect in dystrophin, they still developed muscular dystrophy-like muscle characteristics. When researchers increased the activity of the calcium channel in the muscular dystrophic mice, it improved muscle membrane repair and restored muscle function. The hope is that the same calcium channel will work in people with muscular dystrophy, Xu said. The long-term plan is to develop clinical trials of a drug that would provide the extra activity of TRPML1. The findings are scheduled for advance online … Continue reading →

CBS Detroit (con't) Affordable Care Act Updates: CBSDetroit.com/ACA Health News & Information: CBSDetroit.com/Health Keep up with your favorite teams and athletes with daily updates. DETROIT (WWJ) - Detroit Tigers starting pitcher Rick Porcello is used to striking out opposing batters, but now hes teaming up with Team Joseph to help strike out a deadly disease. Porcello is helping to raise money for medical research to find a treatment or cure for Duchenne Muscular Dystrophy, which mainly affects young boys. With the opportunity that Ive been given as a processional athlete, I just feel like it really isthe least thing we can do to give some of our time and energy to these causes, Porcello said. You know, something likeMuscular DystrophyDuchenne thats really not a well-known disease, to at least create some awareness to put it out there for people to see whats going on. Porcello has agreed to match each dollar donated up to $20,000 to the Strike Out Duchenne campaign. No one should ever take the physical abilities they are blessed with for granted, said Porcello. These boys who never let Duchenne define them are my inspiration to always be my best, both on and off the field. Its … Continue reading →

Wichita, KS (PRWEB) September 10, 2014 Ryan Benton, a 28 year-old Duchennes muscular dystrophy patient from Wichita, Kansas, received his first umbilical cord tissue-derived mesenchymal stem cell treatment yesterday following US FDA approval of his doctors application for a single patient, investigational new drug (IND) for compassionate use. Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is caused by an alteration (mutation) in a gene, called the DMD gene, which causes the muscles to stop producing the protein dystrophin. Individuals who have DMD experience progressive loss of muscle function and weakness, which begins in the lower limbs and leads to progressively worsening disability. Death usually occurs by age 25, typically from lung disorders. There is no known cure for DMD. This trial, officially entitled Allogeneic transplantation of human umbilical cord mesenchymal stem cells (UC-MSC) for a single male patient with Duchenne Muscular Dystrophy (DMD) marks the first time the FDA has approved an investigational allogeneic stem cell treatment for Duchennes in the United States. Ryan received his first intramuscular stem cell injections from allergy and immunology specialist, Van Strickland, M.D at Asthma and Allergy Specialists in Wichita, Kansas. He will … Continue reading →

HACKENSACK, N.J., Sept. 9, 2014 /PRNewswire-USNewswire/ --Pat Furlong,Founding President and CEO of Parent Project Muscular Dystrophy (PPMD), the leading advocacy organization working to end Duchenne muscular dystrophy (Duchenne), announced today that Annie Kennedy has joined the PPMD team as Senior Vice President of Legislation and Public Policy. Ms. Kennedy joins PPMD after being with the Muscular Dystrophy Association (MDA) for 25 years, first as a camp volunteer and as an employee for the last 16 years. Ms. Furlong, who founded PPMD 20 years ago, has long admired Ms. Kennedy's work: "Annie and I have had an informal partnership as representatives of the muscular dystrophy community for many years. But to formalize what I consider an incredibly successful working relationship by bringing Annie into the PPMD family feels like kismet. Annie has been one of the muscular dystrophy community's strongest advocates since she was a teenager and she has dedicated her life to helping our children. Her talent and passion are boundless, and PPMD could not be luckier." Ms. Kennedy has worked closely with PPMD's Advocacy team over the last decade, including collaborations on the MD-CARE Act and recent work to help get amendments to the bill passed this year. Ryan … Continue reading →

KUALA LUMPUR: Nine-year-old B. Tanasegaran, who has undergone two heart bypass operations, has now been diagnosed with Duchenne Muscular Dystrophy (DMD), a genetic disorder that weakens muscles gradually. The pupil of SJK (T) West Country, Kajang, has been told that he could be paralysed within four years. His father Benjamin Thomas said specialist doctors could only prescribe drugs. There is no known cure for DMD and steroids are usually given to control symptoms to improve the quality of life. Benjamin said the Agathiyar Hospital in Chennai treated such patients using ayurveda (an ancient Indian system of natural and holistic medicine) but the cost was RM70,000. I am only a general worker and I have already taken more than RM100,000 in loans to cover the expenses for my sons treatment so far. I am paying the loans back in instalments. I dont have much after buying milk, vitamins and diapers, and paying the monthly rent, he said. Benjamin, who also has a seven-year-old daughter who is being looked after by his mother-in-law, approached MIC Youth Social and Welfare bureau head Arvind Krishnan yesterday for financial assistance to send his son for treatment in India. MIC Youth chief C. Sivarraajh launched the … Continue reading →

Background Duchenne muscular dystrophy is caused by dystrophin deficiency and muscle deterioration and preferentially affects boys. Antisense-oligonucleotide-induced exon skipping allows synthesis of partially functional dystrophin. We investigated the efficacy and safety of drisapersen, a 2-O-methyl-phosphorothioate antisense oligonucleotide, given for 48 weeks. We recruited 53 patients: 18 were given continuous drisapersen, 17 were given intermittent drisapersen, and 18 were given placebo (continuous and intermittent groups combined). At week 25, mean 6MWD had increased by 315 m (SE 98) from baseline for continuous drisapersen, with a mean difference in change from baseline of 3509 m (95% CI 759 to 6260; p=0014) versus placebo. We recorded no difference in 6MWD changes from baseline between intermittent drisapersen (mean change 01 [SE 103]) and placebo (mean difference 351 m [2434 to 3135]) at week 25. The most common adverse events in drisapersen-treated patients were injection-site reactions (14 patients given continuous drisapersen, 15 patients given intermittent drisapersen, and six given placebo) and renal events (13 for continuous drisapersen, 12 for intermittent drisapersen, and seven for placebo), most of which were subclinical proteinuria. None of the serious adverse events reported (one for continuous, two for intermittent, and two for placebo) resulted in withdrawal from the study. Continuous … Continue reading →