- 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 →