» PTC Therapeutics fundraising endeavours for Action Duchenne Action Duchenne

» PTC Therapeutics fundraising endeavours for Action Duchenne Action Duchenne: "PTC Therapeutics are sponsoring the LEJOG 2015 Challenge, which takes place between 26th July and 4 August.

Action Duchenne has 21 riders taking part in LEJOG 2015, including three relay teams. If you would like to support the challenge in fundraising or get involved in a similar event please contact Paul Bown via 020 8556 9955 or paulbown@actionduchenne.org

Lands End to John O’Groats is one of the most iconic cycle tours around , taking in some of the most spectacular scenery in the UK. It’s a challenging event that will see participants pedal the length of the country over 10 days, averaging almost 100 miles a day.



 

Secondly twelve members of staff from PTC Therapeutics are running the New York Marathon on 1 November 2015 for Action Duchenne. They work for the company across the world in the following countries – Brazil, USA, France, Germany, Switzerland and the UK.

The TCS New York City Marathon is the world’s largest marathon, with more than 50,000 finishers in 2013. It began in 1970 with a small group of runners in Central Park and has been held every year since, with the exception of 2012, when the race was cancelled due to Hurricane Sandy. The course starts in Staten Island and passes through all five boroughs of the city."



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» German Federal Joint Committee Issues Positive Medical Benefit Rating for Translarna™ in Duchenne Action Duchenne

» German Federal Joint Committee Issues Positive Medical Benefit Rating for Translarna™ in Duchenne Action Duchenne: "PTC Therapeutics, Inc today announced that the Benefit Assessment by Germany’s Federal Joint Committee (G-BA) indicated that Translarna™ (ataluren) provided a benefit for ambulatory patients aged five years and older with nonsense mutation Duchenne Muscular Dystrophy (nmDMD). The G-BA came to the decision that the existing clinical data package presented by PTC provided convincing evidence for the demonstration of a clinically meaningful added benefit. PTC received a 3 in the rating system established under the German pharmaceutical law.

“We are pleased by the positive assessment we received from the G-BA for Translarna. It reflects the medical benefit provided for nonsense mutation DMD patients where there are no other approved therapies,” said Stuart W. Peltz, Ph.D., Chief Executive Officer, PTC Therapeutics, Inc. “We appreciate the G-BA’s recognition of Translarna’s benefit for these patients with such high unmet medical need.”"



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» Sarepta Therapeutics announce plans to submit rolling NDA for eteplirsen Action Duchenne

» Sarepta Therapeutics announce plans to submit rolling NDA for eteplirsen Action Duchenne: "Sarepta Therapeutics, Inc. announced that the Company held a pre-New Drug Application (NDA) meeting with the U.S. Food and Drug Administration (FDA) regarding eteplirsen. Sarepta has agreed with the Agency to initiate a rolling NDA submission and will submit the non-clinical: chemistry, manufacturing and controls components of the NDA by the end of this week. As previously announced, Sarepta plans to submit the final component of the NDA by mid-year 2015.
“We will initiate a rolling NDA submission to facilitate the regulatory review of the NDA,” said Edward Kaye, M.D., Sarepta’s interim chief executive officer and chief medical officer. “The initiation of our NDA submission for eteplirsen marks a significant milestone for the Duchenne community and we look forward to completing the submission by the middle of the year and to continuing to work with the Agency towards the goal of providing treatments to patients as quickly as possible.”
You can read the full press release from Sarepta by opening the document below:"



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» Action Duchenne submit formal complaint to NHS England. HOW YOU CAN HELP! Action Duchenne

» Action Duchenne submit formal complaint to NHS England. HOW YOU CAN HELP! Action Duchenne: "Action Duchenne have submitted a formal letter of complaint to NHS England over their continued failure to establish a lawful, robust and transparent commissioning service that enables new drugs for the rare disease community to be assessed in an equitable and timely manner.

This letter also draws attention to NHS England’s routine failure to provide families and politicians with clear, accurate and thorough information. This latter point is exemplified by Sir Bruce Keogh (Medical Director of NHS England)’s  recent admission that Individual Patient Funding Requests may be viable route for patients to gain access to Translarna if they will suffer from “imminent, significant and irreversible deterioration” if the drug remains unavailable. This is information families and patients could have benefited from some 10 months ago."



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BioMarin Completes Rolling NDA Submission to FDA for Drisapersen for Treatment of Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping (NASDAQ:BMRN)

BioMarin Completes Rolling NDA Submission to FDA for Drisapersen for Treatment of Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping (NASDAQ:BMRN): "SAN RAFAEL, Calif., April 27, 2015 (GLOBE NEWSWIRE) -- BioMarin Pharmaceutical Inc. (Nasdaq:BMRN) today announced completion of the rolling submission of a New Drug Application (NDA) to the United States Food and Drug Administration (FDA) for drisapersen, an investigational exon-skipping drug candidate for the treatment of the largest genetically defined subset of Duchenne muscular dystrophy (DMD). DMD is the most common fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 3,500 live male births with about 20,000 new cases diagnosed globally each year. Drisapersen induces the skipping of dystrophin exon 51, potentially providing a therapeutic benefit to DMD patients for whom skipping of exon 51 restores the proper dystrophin reading frame, corresponding to approximately 13% of DMD patients. The company intends to also submit an application for registration in the European Union in summer 2015."



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Parent Project Muscular Dystrophy Awards $148,000 Grant to University of Washington - PPMD Community

Parent Project Muscular Dystrophy Awards $148,000 Grant to University of Washington - PPMD Community: "Parent Project Muscular Dystrophy (PPMD) has awarded University of Washington a $148,000 grant to continue the functional analysis of spectrin-like repeats in dystrophin. Led by Stanley C. Froehner, PhD, Sackler professor and chair of the Department of Physiology & Biophysics at University of Washington, this grant will provide funding so that more research can be completed before the team submits to the National Institutes of Health (NIH) for additional resources."



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FOR-DMD Study Webinar (April 2015) - YouTube

FOR-DMD Study Webinar (April 2015) - YouTube: "OR-DMD Study Webinar (April 2015)"



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» Update on Ataluren (Translarna). Funding deadline in doubt as CPAG meeting is pushed back to June. Action Duchenne

» Update on Ataluren (Translarna). Funding deadline in doubt as CPAG meeting is pushed back to June. Action Duchenne: "Despite consistent assurances from key figures at NHS England, Action Duchenne have learnt that the Clinical Priorities Advisory Group (CPAG) assessment considering the outstanding proposed investments for 2015/16 (including Translarna) is not anticipated to sit until at least June."



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