Category Archives: Muscular Dystrophy Treatment

Last week, Translarna, also known as ataluren, which prompts the body to manufacture a protein that protects against muscle damage which is absent in children with the disease, was licensed under special measures. Penny hails the introduction of the new drug, but also fully supports the work of the Muscular Dystrophy Campaign and a cross-party group of MPs, who recently recommended that the National Screening Committee update their criteria so that Duchenne can be tested for at birth. The muscle-wasting condition affects around 2,500 children and young people in the UK, and this update could help the 100 or so babies who are diagnosed each year. At the moment, Duchenne isnt one of the five main conditions that are tested for, such as sickle cell disease and cystic fibrosis. The reason is that it doesnt fit the NSCs criteria, which says that a condition needs to be: a) symptomatic at or shortly after birth, and b) be treatable at or shortly after birth. With Duchenne, there isnt definitive data of when boys become symptomatic. It can be six to 12 months after birth, but newborn screening is typically done with a blood test five days after birth, and accurate tests … Continue reading →

- The first treatment for the underlying cause of Duchenne muscular dystrophy - SOUTH PLAINFIELD, New Jersey, May 23, 2014 /PRNewswire/ -- PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced that following its request for re-examination, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) has adopted a positive opinion regarding the company's application for a conditional marketing authorization of TranslarnaTM (ataluren) for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD) in ambulatory patients aged five years and older. Logo - http://photos.prnewswire.com/prnh/20010919/PTCLOGO "We are very pleased with the outcome of the CHMP review of Translarna's marketing authorization application (MAA) and the level of engagement we experienced with CHMP members throughout the review process," said Robert J. Spiegel, M.D., Chief Medical Officer of PTC Therapeutics, Inc. "We are grateful to the patients, families, advocacy groups and physicians who have supported PTC Therapeutics through many years of research and development of Translarna. It is important to note that this journey continues through the completion of our Phase 3 Translarna confirmatory trial in nmDMD (ACT DMD) which is a high priority for PTC and the DMD community." Dr. Craig McDonald, Professor of Physical Medicine and Rehabilitation at … Continue reading →

Residents are being asked to walk, wheel, and roll Saturday to make muscles move in the Simcoe Region Walk for Muscular Dystrophy. Muscular Dystrophy is a disease that affects more than 50,000 Canadians and causes many of them to lose the ability to walk, speak, and even breathe. Muscular Dystrophy Canada is there to help and support all those with or affected by the disease, but they need help. And the walk is Barrie's opportunity to help them out. This event will show support for those living with the disease, as well as to raise funds that will go to funding equipment, emotional support, education, therapy treatment, and research. As events go, this one is as family-friendly and fully accessible as possible, making it easy for everyone to be able to participate. There will be activities for the young and old alike, as well as a raffle, and, of course, food. (The walk) is an opportunity for the community to come together and support those affected by neuromuscular disorders at the local level, said Muscular Dystrophy Canada's Executive Director Stacey Lintern. The walk will take place at Minet's Point Park, with registration beginning at 10 a.m. and the walk at … Continue reading →

There are around 100 boys born with Duchenne muscular dystrophy each year and there are 2,400 living with it currently. Patients with the condition lack normal dystrophin, a protein found in muscles. Because this protein helps to protect muscles from injury as muscles contract and relax, in patients with the disease the muscles become damaged and eventually stop working. In 10 per cent to 15 per cent of cases, the condition is caused by specific mutations in their genes, called nonsense mutations. Nonsense mutations in the dystrophin gene prematurely stop the production of a normal dystrophin protein, leading to a shortened dystrophin protein that does not function properly. Translarna is thought to work in these patients by enabling the protein-making apparatus in cells to skip over the defect, allowing the cells to produce a functional dystrophin protein. The European Medicines Agency had initially turned down Translarna due to a lack of evidence. However after representations, it reconsidered the drug, including a new analysis of data submitted by the manufacturer PTC Therapeutics. It has now been given a conditional licence which allows early access to medicines for life threatening diseases. Robert Meadowcroft, chief executive of the Muscular Dystrophy Campaign, said: This … Continue reading →

There are around 100 boys born with Duchenne muscular dystrophy each year and there are 2,400 living with it currently. Patients with the condition lack normal dystrophin, a protein found in muscles. Because this protein helps to protect muscles from injury as muscles contract and relax, in patients with the disease the muscles become damaged and eventually stop working. In 10 per cent to 15 per cent of cases, the condition is caused by specific mutations in their genes, called nonsense mutations. Nonsense mutations in the dystrophin gene prematurely stop the production of a normal dystrophin protein, leading to a shortened dystrophin protein that does not function properly. Translarna is thought to work in these patients by enabling the protein-making apparatus in cells to skip over the defect, allowing the cells to produce a functional dystrophin protein. The European Medicines Agency had initially turned down Translarna due to a lack of evidence. However after representations, it reconsidered the drug, including a new analysis of data submitted by the manufacturer PTC Therapeutics. It has now been given a conditional licence which allows early access to medicines for life threatening diseases. Robert Meadowcroft, chief executive of the Muscular Dystrophy Campaign, said: This … Continue reading →

ISS Discovery: Fighting Duchenne's Muscular Dystrophy Dr. Yoshihiro Urade, Ph.D. is an investigator who utilizes the microgravity environment of the International Space Station to research the cause and cure for... By: Boeing … Continue reading →

--------------------------------------------------------------------- Regulatory Discussions Ongoing; Drisapersen Re-Dosing to Start in Q3 LEIDEN, The Netherlands, 2014-05-20 13:00 CEST (GLOBE NEWSWIRE) -- Prosensa Holding N.V. (Nasdaq:RNA), the Dutch biopharmaceutical company focusing on RNA-modulating therapeutics for rare diseases with high unmet need, today reported financial results for the first quarter ending March 31, 2014 and provided an update on the next steps for its exon-skipping platform for the treatment of Duchenne Muscular Dystrophy (DMD). Hans Schikan, CEO of Prosensa said, 'We have made excellent progress during this period, and are very pleased that we are now in a position to commence re-dosing with drisapersen of boys that have previously participated in drisapersen trials beginning in the third quarter of 2014. In addition, our 250-patient Natural History study, designed to better understand the disease progression of DMD, has almost completed enrollment.' 'We are encouraged by our ongoing interactions with the regulatory authorities, in both the United States and Europe, and remain on track to communicating a potential regulatory path forward for drisapersen by the end of June,' he added. 'Prosensa is dedicated to enabling long term patient access to drisapersen and its follow-on candidates as novel treatments for DMD. We are determined to accomplish this … Continue reading →

(Nasdaq:RNA), the Dutch biopharmaceutical companyfocusing on RNA-modulating therapeutics for rare diseases with high unmet need,today reported financial results for the first quarter ending March 31, 2014and provided an update on the next steps for its exon-skipping platform for thetreatment of Duchenne Muscular Dystrophy (DMD). Hans Schikan, CEO of Prosensa said, 'We have made excellent progress duringthis period, and are very pleased that we are now in a position to commencere-dosing with drisapersen of boys that have previously participated indrisapersen trials beginning in the third quarter of 2014. In addition, our250-patient Natural History study, designed to better understand the diseaseprogression of DMD, has almost completed enrollment.' 'We are encouraged by our ongoing interactions with the regulatory authorities,in both the United States and Europe, and remain on track to communicating apotential regulatory path forward for drisapersen by the end of June,' headded. 'Prosensa is dedicated to enabling long term patient access todrisapersen and its follow-on candidates as novel treatments for DMD. We aredetermined to accomplish this as soon as possible.' Recent Corporate Highlights-- Updates on the Drisapersen Development Program -- On January 13, we announced that we regained the rights to drisapersen from GSK and retained the rights to all other programs … Continue reading →

Get your spare change ready! Sioux Falls Fire fighters will be gearing up, encouraging you to Fill the Boot for the Muscular Dystrophy Association. The event starts next Wednesday, May 21 and lasts through Friday, May 23. You'll find crews at all Hy-Vee locations throughout Sioux Falls. Every dollar that passing civilians can pitch into the fire fighters boots helps fire fighters provide medical treatment and support services to individuals and their families living with neuromuscular diseases in the Sioux Falls area. Funds also help support some of the 250 worldwide research projects seeking better treatment and cures for nearly 40 neuromuscular diseases covered by MDA, including Duchenne Muscular Dystrophy, Spinal Muscular Atrophy and ALS. 500 South Dakota families benefit from the support of firefighters with MDA and Fill the Boot. MDA's Area Director Erin Rohrer tells KSFY News The International Association of Fire Fighters (IAFF) has been a national MDA partner for 60 years. 2013 was a record year for Sioux Falls as SFFR raised more than $30,000 for South Dakota MDA and held the title for the second largest Fill the Boot department in the state. For more information about MDA's Fill the Boot event, visit:http://www.iaff.org/MDA/index.asp Read this … Continue reading →

What does erectile dysfunction and muscular dystrophy have in common? Apparently one day they both may be treated using the same medication. A new studyin Neurology has found that when young boys with Duchenne muscular dystrophy were given erectile dysfunction medication, their blood flow significantly improved. Although the results are promising, researchers urge that rather than it being a potential cure, it may open the door to identifying new treatments for the conditions. In the small study, researchers observed the blood flow in 10 boys aged 8 to 13 with Duchenne muscular dystrophy. All of these boys were prescribed steroids and able to walk, although some used a wheelchair or scooter. According to the press release, the researchers measured the blood flow in all the boys when they were at rest and again when they were doing handgrip exercises. The boys continued to demonstrate abnormal blood flow when compared to healthy boys in the same age range. The researchers repeated the study, now giving Cialis or Viagra to the boys with Duchenne. Both drugs improved blood flow in boys with the condition to the point where it was equal to that of the healthy boys, HealthDay reported. The effect was … Continue reading →