All Party Parliamentary Group - Access to high-cost drugs for rare diseases - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy

All Party Parliamentary Group - Access to high-cost drugs for rare diseases - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy: Yesterday, Paul Lenihan – our CEO attended the Parliamentary reception briefing on the launch of the APPG’s report into access to high-cost drugs for rare diseases. Hosted and introduced by Dave Anderson MP, Action Duchenne endorses the four main recommendations contained within the report. These call for: 

1. The Government to establish ring-fenced funds for rare disease drugs. 

2. National Institute for Clinical Excellence (NICE) to access treatments for rare conditions in a different way from less rare conditions 

3. NICE and NHS England to speed up access to life-changing drugs after final stages of clinical trials to ensure there are no major delays in treatments reaching children. 

4. NHS England to ensure specialist centres are equipped with an appropriate range of health professionals to deliver treatments. 

Clinical trial recruitment updates - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy

Clinical trial recruitment updates - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy: The FOR DMD study is now open to recruitment in most UK sites: Newcastle, GOSH, Cardiff, Manchester, Leeds, Liverpool, Glasgow and Birmingham.

The FOR DMD study is an international study which evaluate the three most commonly prescribed corticosteroid regimes in DMD to establish which one is of greatest benefit and which one is associated with the best side effect profile. Participating boys will receive one of the three regimes and will be closely monitored for muscle strength, performance and development of any side effects in accordance to the highest standards of care. Further information will de desiminated and please refer to the website for more details (link below). 

Recruitment for US phase Ib and IIa studies testing halofuginone (HT-100 by HALO Therapeutics) is currently exceeding targets. This compound is the first antifibrotic to be trialled in DMD and was previously supported at the early stages by various patients organisations, including Action Duchenne. Halofuginone, interrupts signalling in a key fibrotic pathway; preventing the replacement of normal muscle fibres and stabilising muscle function. 

The HALO team are planning ahead with larger multinational pivotal phase II/III studies estimated to take place in 2015 (see link at the end for further details). 

Clarity on Drisapersen breakthrough designation and Ataluren trial update - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy

On the 28th of June, GSK announced that the US Food and Drug Administration (FDA) had awarded their drisapersen drug for exon 51 skipping breakthrough status. Having been in contact with the GSK team concerning it's significance, it is quite clear that the FDA will work closely with GSK to provide advice and guidance in order to review the drug in an efficient manner. Further information has also been taken from the FDA website, of which a link is included at the bottom of the page. 

PTC therapeutics have informed the Action Duchenne team that phase III trial sites will open this autumn in the UK. Their primary compound, Ataluren is a potential treatment for those with a nonsense mutation (about 13%) of the DMD population. They have produced a frequently asked question factsheet for those who would like further information - please follow the link below. 

http://www.actionduchenne.org/jsp/uploaded_files/documents/ROOT/2013-06-24%20FAQ%20FINAL%20for%20print%20ATA.pdf 


If there are any questions regarding DMD research or treatments on the horizon, please contact Diana Ribeiro, Head of Research: diana@actionduchenne.org. 

Experts and patient organisations unite to discuss DMD clinical trial parameters - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy

On the 21st of June, Diana Ribeiro, Head of Research, Action Duchenne was involved in a meeting hosted by TREAT-NMD and co-sponsored by various MD organisations entitled Ways to Measure Clinical Effectiveness in the Investigation of Medicinal Products for BMD/DMD. This was a document drafted by the European Medicines Agency earlier this year (link below) and has gone out to consultation to all. They have invited further evidence-based comments and feedback in a coherent and structured manner by the 31st of August. 

The meeting led by the experts and family members pointed out areas they felt had not been clear with regards to current progress in assessing DMD clinical trials and based on current knowledge can be addressed further. A few representatives from the regulatory agencies were present and shared their personal views. Much of the discussion involved the robustness and validity of current and future outcomes for studies. 

There is more evidence to emerge for clinical trial criteria, which is currently unpublished to address some of the main limitations as stipulated by the respective agencies and regulators in the draft guideline document. These need to be assimilated by the experts into a formal response and the information from this meeting and consultation will be shared with all as soon as these become available.

Updates in exon skipping data - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy

Updates in exon skipping data - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy: Sarepta Therapeutics, Inc. announced updated data at the Wells Fargo Securities Healthcare Conference on the 19th of June from Study 202, a Phase IIb open-label extension study of eteplirsen for patients who have a genotype amenable to skipping of exon 51. Results at 84 weeks showed a continued stabilisation of walking ability in eteplirsen-treated patients evaluable on the 6-minute walk test (6MWT).As previously reported, increased novel dystrophin was observed as assessed by muscle biopsy at week 48 and is now in the long-term extension phase in which patients continue to be followed for safety and clinical outcomes. 

Duke researchers find novel way to repair gene responsible for Duchenne muscular dystrophy

Duke researchers find novel way to repair gene responsible for Duchenne muscular dystrophy: Using a novel genetic 'editing' technique, Duke University biomedical engineers have been able to repair a defect responsible for one of the most common inherited disorders, Duchenne muscular dystrophy, in cell samples from Duchenne patients.

Instead of the common gene therapy approach of adding new genetic material to "override" the faulty gene, the Duke scientists have developed a way to change the existing mutated gene responsible for the disorder into a normally functioning gene.The Duke researchers believe their approach could be safer and more stable than current methods of gene therapy.

Scottish Lobby 2013 - Action Duchenne - Fighting for a cure for muscular dystrophy

Scottish Lobby 2013 - Action Duchenne - Fighting for a cure for muscular dystrophy: SCOTTISH LOBBY 2013: ACTION DUCHENNE: BREAKTHROUGH TREATMENTS FOR DUCHENNE MUSCULAR DYSTROPHY EVENT

Please join us at Action Duchenne's Scottish Lobby event on Thursday 13th June from 1-2.30pm at the Scottish Parliament in Committee Room 1.