Wednesday 2 October 2013

News Release | sareptatherapeutics.com

News Release | sareptatherapeutics.com: CAMBRIDGE, MA -- (Marketwired) -- 10/02/13 -- Sarepta Therapeutics, Inc. (NASDAQ: SRPT), a developer of innovative RNA-based therapeutics, today announced a new online resource center, called Let's Skip Ahead, for families affected by Duchenne muscular dystrophy (DMD) and their healthcare providers. The new website, available at www.skipahead.com, includes information and educational resources intended to make the science of exon skipping simple, and provides an opportunity to sign up for updates about upcoming Sarepta clinical trials.

http://www.skipahead.com/

Thursday 26 September 2013

News Release | sareptatherapeutics.com

News Release | sareptatherapeutics.com: Sarepta Therapeutics Announces Eteplirsen Demonstrates Continued Stability on Walking Test Through 96 Weeks in Phase IIb Study in Duchenne Muscular Dystrophy

Sarepta Therapeutics, Inc. (NASDAQ: SRPT), a developer of innovative RNA-based therapeutics, today announced data through Week 96 from Study 202, a Phase IIb open-label extension study of eteplirsen in patients with Duchenne muscular dystrophy (DMD). Results through nearly two years showed a continued stabilization of walking ability in eteplirsen-treated patients evaluable on the 6-minute walk test (6MWT). As previously reported, Study 202 met its primary endpoint of increased novel dystrophin 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.
After 96 weeks, patients in the 30 mg/kg and 50 mg/kg eteplirsen cohorts who were able to perform the 6MWT (modified Intent-to-Treat or mITT population; n=6) experienced less than a 5 percent decline (17.5 meters) from baseline in walking ability. A statistically significant treatment benefit of 70.8 meters (p ≤0.001) was observed for the mITT population compared with the placebo/delayed-treatment cohort (n=4), which initiated treatment at Week 25 following 24 weeks of placebo. After experiencing a substantial decline earlier in the study, the placebo/delayed-treatment cohort also demonstrated stabilization in walking ability from Week 36 through 96, the period from which meaningful levels of dystrophin were likely produced, with a decline of 18.5 meters over this timeframe. These analyses were based on the maximum 6MWT score when the test was performed on two consecutive days.
"We are very encouraged the study has demonstrated walking stability in patients for more than a year since confirming that eteplirsen treatment produced dystrophin in their muscles," said Chris Garabedian, president and chief executive officer of Sarepta Therapeutics. "We look forward to sharing these updated data with the FDA as part of our New Drug Application for eteplirsen, which we plan to submit in the first half of 2014."

Wednesday 4 September 2013

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 dystrophyYesterday, 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. 

Monday 29 July 2013

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). 

Wednesday 3 July 2013

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. 

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.

Tuesday 14 May 2013

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.

Thursday 18 April 2013

ARMGO Pharma gets $1 million to support ARM210 preclinical work for DMD treatment

ARMGO Pharma gets $1 million to support ARM210 preclinical work for DMD treatment: ARMGO Pharma and the Muscular Dystrophy Association (MDA) today announced that $1 Million has been awarded for preclinical work in support of an Investigational New Drug (IND) application with the U.S. Food and Drug Administration (FDA) for ARM210, a novel, orally available, small-molecule Rycal drug that has potential as a treatment for Duchenne muscular dystrophy (DMD). The funding award to ARMGO Pharma comes from MDA Venture Philanthropy (MVP), part of MDA's translational research program.

The project being advanced by ARMGO Pharma is focused on a novel class of small molecule drugs known as Rycals™ which target the Ryanodine Receptor (RyR), an intracellular calcium channel that becomes leaky in disease states including muscular dystrophy, contributing to loss of muscle strength and function.� Rycals have been shown in animal models of muscle disease to repair RyR-mediated calcium leak and thereby improve specific muscle force and exercise capacity.�

Glaxo Muscular Dystrophy Drug Reaches Primary Objective in Study - Bloomberg

Glaxo Muscular Dystrophy Drug Reaches Primary Objective in Study - Bloomberg: GlaxoSmithKline Plc (GSK)’s drisapersen achieved the primary objective of a mid-stage study, heating up competition with Sarepta Therapeutics Inc. (SRPT) in the race for a drug that could reverse the debilitating effects of Duchenne muscular dystrophy.
Patients taking drisapersen showed a clinically meaningful difference from those on placebo after 48 weeks of treatment, according to an abstract of the study results posted on the website of CureDuchenne, an investor in Glaxo’s partner on the drug, Dutch biotechnology company Prosensa Therapeutics BV. Glaxo will present the data at a genetics conference in Cold Spring Harbor, New York, tomorrow.

Monday 15 April 2013

Positive updates for exon skipping and other treatments - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy

Positive updates for exon skipping and other treatments - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy: At a recent RNA and Oligonucleotide Therapeutics conference at Cold Spring Harbor, US, 10-13 April 2013, Dr John Kraus GSK Project Physician Leader presented Phase II results. The (DMD114117) study was an exploratory, unpowered, double blind, placebo-controlled clinical trial with the aim of assessing the safety and efficacy of drisapersen in 53 boys with DMD. The dosing regimens were continuous (6mg/kg/wk) and intermittent (10-week cycles of 9 doses at 6mg/kg over 6 wks, and 4 wks off drug).

Tuesday 12 February 2013

Steroid therapy impedes Duchenne’s cardiomyopathy

Steroid therapy impedes Duchenne’s cardiomyopathy: Steroid therapy is associated with a considerable reduction in all-cause mortality and new-onset and progressive cardiomyopathy in patients with the debilitating X-linked disease Duchenne muscular dystrophy (DMD).

Tuesday 29 January 2013

PTC Therapeutics ataluren webinar available online now - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy

PTC Therapeutics ataluren webinar available online now - View News Article - Action Duchenne - Fighting for a cure for muscular dystrophy: Webinar has information on results of phase 2b study and future plans

ARTICLE POSTED: 29 JANUARY 2013 PERMANENT LINK
On January 17, 2013, Dr. Jay Barth, Vice President for Clinical Development at PTC Therapeutics hosted a webinar about the study design and timeline for ataluren development. You can watch the video recording of this on the Parent Project Muscular Dystrophy website (link below).

Thursday 24 January 2013

Research on dystrophin gene sequence could lead to treatments for Duchenne muscular dystrophy

Research on dystrophin gene sequence could lead to treatments for Duchenne muscular dystrophy: Muscular dystrophy is caused by the largest human gene, a complex chemical leviathan that has confounded scientists for decades. Research conducted at the University of Missouri and described this month in the Proceedings of the National Academy of Sciences has identified significant sections of the gene that could provide hope to young patients and families.

MU scientists Dongsheng Duan, PhD, and Yi Lai, PhD, identified a sequence in the dystrophin gene that is essential for helping muscle tissues function, a breakthrough discovery that could lead to treatments for the deadly hereditary disease. The MU researchers "found the proverbial needle in a haystack," according to Scott Harper, PhD, a muscular dystrophy expert at The Ohio State University who is not involved in the study.

Monday 21 January 2013

Parent Project Muscular Dystrophy Grants $175,000 for Biomarkers, Non-Ambulatory Endpoints in Duchenne Muscular Dystrophy

Parent Project Muscular Dystrophy Grants $175,000 for Biomarkers, Non-Ambulatory Endpoints in Duchenne Muscular Dystrophy: HACKENSACK, N.J., Jan. 18, 2013 /PRNewswire-USNewswire/ --�Parent Project Muscular Dystrophy (PPMD) has awarded Dr. Craig McDonald of the University of California, Davis (UC Davis) $175,000 in supplemental funds to expand his ongoing study through the 20 CINRG (Cooperative International Neuromuscular Research Group) centers to better understand the progression of Duchenne muscular dystrophy (Duchenne) and determine the impact of the Duchenne standards of care established by the Centers for Disease Control (CDC).� Related studies will focus on developing new endpoints in boys who are still walking and those who can no longer walk, and identifying blood markers that track the progression of the disease.� The PPMD funding will allow Dr. McDonald to recruit 100 additional subjects into the study.

Friday 18 January 2013

Potential stem cell therapy for Duchenne’s

Potential stem cell therapy for Duchenne’s: Researchers have found that injecting aorta-derived stem cells into the hearts of dystrophin-deficient mice prevents the onset of dilated cardiomyopathy (DCM), raising hopes of a potential new treatment approach to prevent or reverse the condition in human Duchenne muscular dystrophy.

"This is the first report of stem cell therapy yielding functional benefit in the dystrophin-deficient heart," say Suzanne Berry (University of Illinois, Urbana, USA) and team.

Thursday 17 January 2013

Tamoxifen can counteract some pathologic features in mouse model of DMD

Tamoxifen can counteract some pathologic features in mouse model of DMD: A new study has found that tamoxifen, a well-known breast cancer drug, can counteract some pathologic features in a mouse model of Duchenne muscular dystrophy (DMD). At present, no treatment is known to produce long-term improvement of the symptoms in boys with DMD, a debilitating muscular disorder that is characterized by progressive muscle wasting, respiratory and cardiac impairments, paralysis, and premature death. This study will be published in the February 2013 issue of The American Journal of Pathology.

Positive gene therapy results in large mammals of Duchenne muscular dystrophy

Positive gene therapy results in large mammals of Duchenne muscular dystrophy: Positive gene therapy results in large mammals of Duchenne muscular dystrophy