Friday 28 June 2013

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There is more evidence to emerge for clinical trial criteria, which is currently unpublished to address some of the main limitations as stipulated by the respective agencies and regulators in the draft guideline document.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.

Monday 24 June 2013

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. 

Wednesday 5 June 2013

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.