Category Archives: Muscular Dystrophy Treatment

HACKENSACK, N.J., Feb. 28, 2013 /PRNewswire-USNewswire/ -- Parent Project Muscular Dystrophy (PPMD), the leading non-profit in the United States focused entirely on Duchenne muscular dystrophy (Duchenne), will mark the six year anniversary of Rare Disease Day today by participating in two important events that will raise awareness about Duchenne and share with audiences compelling stories from our community. (Logo: http://photos.prnewswire.com/prnh/20100119/DC39975LOGO) PPMD Founder, President, and CEO Pat Furlong will participate in the 3rd Annual Sanford Rare Disease Symposium in Sioux Falls, South Dakota. In commemoration of the 30 million Americans affected by nearly 7,000 rare diseases, Sanford Research will be hosting its symposium to increase public awareness of rare diseases and provide information to healthcare providers and researchers. Pat will share her Duchenne journey, as well as discuss the role PPMD continues to play in advancing research, advocating in Washington, and improving care. PPMD's Chief Operating Officer, Kimberly Galberaith will be simultaneously participating in a Rare Disease Day Town Hall Meeting hosted by Pfizer. Duchenne was one of only a couple of rare diseases focused on in this meeting, and PPMD is honored to be putting together a panel of families to tell their stories. Says Ms. Galberaith, "The importance of … Continue reading →

February 27, 2013 Chick-fil-A at Rockwell plans MDA fundraiser Anonymous Special to The Sun The Edmond Sun Wed Feb 27, 2013, 05:40 PM CST OKLA. CITY The Chick-fil-A at Rockwell in Oklahoma City invites the community to attend a fundraiser and fun day for the Oklahoma branch of the Muscular Dystrophy Association, as a part of Oklahoma Childrens Disability Awareness Month. This kick-off event will take place from 9 a.m. to 5 p.m. Saturday at 7004 N.W. Expressway. A percentage of the days sales will benefit Oklahoma MDA to support affected families and fund research for the treatment and cure of muscular dystrophy. During the kick-off event, attendees are encouraged to meet the families supported by the local MDA office. As part of the partnership with the Oklahoma MDA, Chick-fil-A at Rockwell has provided more than 200 free meals to 50 families who will attend the event. Additionally, as part of the days events, community members and attendees can participate in free activities and entertainment including Chick-fil-A Plinko, face painting, bean bag and balloon toss, drawings for prizes, and complimentary photos with the Chick-fil-A Eat Mor Chikin and Kid Cows. Guests dining in the restaurant or visiting the drive-thru can … Continue reading →

BACKGROUND: Duchenne muscular dystrophy (DMD) is a vicious form of muscular dystrophy that occurs mostly in boys. It is caused by an alteration in a gene, called the DMD gene that can be inherited, but it also can occur in people who do not have a known family history of the condition. The condition causes progressive loss of muscles function and weakness that begins in the lower limbs. Boys with DMD do not make the dystrophin protein in their muscles. It affects approximately one in 3500 boys worldwide. (Source: http://www.genome.gov) SYMPTOMS: When a child has DMD, symptoms normally appear before six years old and may appear as early as infancy. The first noticeable symptom is in motor milestones. For example, sitting and standing independently will be more of a challenge. The average age of walking in boys with DMD is 18 months. DMD attacks the leg and pelvic muscles, resulting in a waddle and difficulty climbing stairs. Calf muscles usually enlarge and the muscle tissue eventually is replaced with connective tissue and fat. When the leg muscles contract, the muscles become unusable because the muscle fibers are shortened and fibrosis occurs in connective tissue. Symptoms are usually prevalent in boys … Continue reading →

The same week she was meeting with the Food and Drug Administration to approve a miracle drug for her terminally ill son, Vermont and the Windham Northeast Supervisory Union filed truancy charges against Jenn McNary and her son. Austin, 14, has Duchenne Muscular Dystrophy and has not been in school for a year and a half. McNary said there's a reason. "You've got to have a child who's feeling confident and cared for in his school, and that's the bottom line. He wasn't," she said. In 2010, Austin, bound to a wheelchair, attended the Bellows Fall Middle School for fifth grade. He had trouble getting into and around the historic building. "Behind the school, passed a Dumpster, through a closet-- just to get to the elevator," said Austin. The building was, and still is, in the process of being renovated, and the mother was concerned for her son's safety. "If the building caught on fire, with its old wiring and its renovation, Austin was not able to get out of that building," McNary said. Superintendent Christopher Kibbe said the renovations will be finished next week. One goal of the renovation was to make the building universally accessible and Kibbe said … Continue reading →

Daiichi Sankyo is establishing the new company with Innovation Network Corporation of Japan (INCJ) and Mitsubishi UFJ Capital Co., Ltd. (MUC). INCJ will underwrite third party allocation of new shares for the new company with a maximum investment of 1.65 billion yen. The new company will also issue new shares by third party allocation for a fund managed by MUC. Daiichi Sankyo will invest in the new company and mainly conduct development with the goal of achieving proof of concept (POC) for clinical drug development. In 2006, professor Masafumi Matsuo (Kobe Gakuin University Department of Medical Rehabilitation) and designated professor Yasuhiro Takeshima (Kobe University Graduate School of Medicine Department of Pediatrics) were the first in the world to demonstrate the effectiveness of anti-sense oligonucleotides to restore dystrophin expression in DMD sufferers through the mechanism known as exon skipping. Daiichi Sankyo and Orphan Disease Treatment Institute will jointly conduct clinical and non-clinical studies with the cooperation and support of these two professors with the aim of achieving POC. Company Profile|Print|Alerts More here: Recent Daiichi Sankyo News … Continue reading →

NEW YORK (TheStreet) -- Many investors are smitten with Sarepta Therapeutics (SRPT) and its lead compound, eteplirsen, a novel experimental drug for Duchenne Muscular Dystrophy (DMD), which aims to help patients produce a normal amount of dystrophin, a protein required for correct muscle function. Sarepta bulls are so smitten with the company that they believe FDA will allow eteplirsen to be filed for accelerated approval on the basis of a single phase IIb study. Sarepta is meeting with FDA in the first quarter to discuss this issue. Under accelerated approval regulations, FDA allows the early approval of drugs to treat serious disease that fill unmet medical needs. The approvals are based on clinical trials that assess efficacy using surrogate endpoints. "The FDA bases its decision on whether to accept the proposed surrogate endpoint on the scientific support for that endpoint. The studies that demonstrate the effect of the drug on the surrogate endpoint must be adequate and well-controlled studies, the only basis under law for a finding that a drug is effective," the FDA's regulations state. [Emphasis mine.] Unlike the bulls, I believe Sarepta is extremely unlikely to convince FDA the eteplirsen data warrant accelerated approval. Instead, it's much more … Continue reading →

LACYGNE, KS (KCTV) - An area teen with muscular dystrophy got the surprise of a lifetime when his classmates thanked him in a big way for always being the smile in the room and for not letting his disease stand in the way of encouraging others. The event happened just before the Prairie View High School boys' basketball team played its homecoming game. They ended up losing, but the team, fans and a very special boy walked away with an experience they'll never forget. Clayton Holland is the type of guy that gets everyone around him in a good mood. He might be a little slower to get around, but he'll be the first to greet you. "He's just a great person, great friend, classmate, always says hi to you, always has a smile on his face," classmate Luke Miller said. Claytondoesn't let muscular dystrophy get in the way of much even showing off his skills and making a 3-point shot while standing backwards when KCTV5 came to visit his school - and doesn't ask for special treatment. But during Prairie View High School's recent Courtwarming, some students had another plan. Luke was announced as the Courtwarming King. While the … Continue reading →

44 Projects support new drug development, insights into neuromuscular disease Tucson, Arizona (PRWEB) February 07, 2013 MDA awarded 44 grants totaling more than $13 million, most of which took effect Feb. 1. The grants encompass a range of diseases covered by the Association, and include innovative approaches to basic research and drug development, which may open new avenues for possible therapeutic treatments. "We're excited to award a set of grants covering such an important and comprehensive range of topics in the field of neuromuscular disease research," said MDA Vice President of Research Jane Larkindale. "Many of the new projects stand to have a great impact on the state of science not only in a single disease category but for many of the diseases under MDAs umbrella." Some of the projects funded by the new grants will focus on understanding the relationship between specific genetic mutations and disease manifestations. While MDA-funded research has made tremendous advances in identifying genes and genetic defects that relate to neuromuscular diseases, there are still unanswered questions about how those genetic defects cause specific disease characteristics. In the effort to identify new therapeutic targets, several of the grants will fund early-stage testing of specific therapeutic hypotheses. … Continue reading →

MENLO PARK, Calif., Feb. 7, 2013 /PRNewswire-USNewswire/ -- The Myotonic Dystrophy Foundation (MDF) has awarded two $100,000 grants to postdoctoral Fellows working in universities to encourage basic research in the management, treatment and cure of myotonic dystrophy (DM). Each of the 2013-2014 recipients will receive $50,000 a year for two years. (Logo: http://photos.prnewswire.com/prnh/20130207/DC56674LOGO) This award cycle brings MDF's total research funding to over $1.5M and builds on the Foundation's commitment to increasing the number of investigators focused on DM research. To date, MDF Fellows have gone on to attract additional research funding from organizations such as the NIH, have helped influence interest in DM research at major pharmaceutical companies, and have risen to senior positions at academic and clinical settings across the US since the program was founded in 2009. The 2013-2014 awardees are: Dr. Ayal Hendel, Ph.D. CTG/CAG repeat tracts represent the genetic basis for Myotonic Dystrophy type 1 (DM1). DM1 etiology is caused by the expansion of CTG/CAG repeats. Expanded CTG/CAG repeats have been shown to be prone to double-strand breaks (DSBs), and the repair of the DSBs leads mainly to repeat contractions. Dr. Hendel's research will examine the contribution of DSB repair to the stimulation of repeat … Continue reading →

Swimmer Travels to Capitol Hill to Urge Congress toContinue Support of People with Duchenne Muscular Dystrophy WASHINGTON, Feb.7, 2013 /PRNewswire-USNewswire/ --Parent Project Muscular Dystrophy (PPMD), the leading non-profit in the United States focused entirely on Duchenne muscular dystrophy (Duchenne), welcomes 11-time Olympic medalist Ryan Lochte to their Annual Advocacy Conference in Washington, D.C., February 10-12, 2013. Lochte, one of the top American performers at the 2012 Olympic Games in London and a world record holder, is trading in his goggles and swim cap for a briefing binder and suit and tie to support families impacted by Duchenne. (Logo: http://photos.prnewswire.com/prnh/20100119/DC39975LOGO) Lochte, 28, has been a volunteer spokesman for PPMD since the 2008 Olympic Games in Beijing. Joining PPMD's fight to end Duchenne is more than just a good cause for him; Lochte's uncle, Ron Sweitzer , had a brother who died from the disease. In turn, Ryan has made ending Duchenne a priority. To help achieve this goal, Lochte will return to Washington, D.C. with more than 100 advocates on February 11th to urge Congress to reauthorize The Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments of 2013 (MD-CARE Act). The MD-CARE Act was first enacted in 2001 … Continue reading →