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Analyses and assessment of next steps are ongoing PPMD just received the following update from GSK regarding the current status of their drisapersen study: D…
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A preclinical study led by researchers at Children’s National Medical Center has found that a new oral drug shows early promise for the treatment of Duchenne muscular dystrophy (DMD).
This is progress on the ReveraGen drug, a new chemical entity that has been developed as a potential steroid replacement, without the significant side effects of steroids. This is amazing progress and we are hopeful/anxious to see this move into clinical studies.
This is a drug we have been following for several years, a nitric oxide contributing (NO –Donor) compound, increases cGMP. It would increase the flow of blood /oxygen to muscle and is another drug in the pipeline for Duchenne.
PTC Therapeutics, Inc. announced today that it will hold its first R&D Day on Friday, October 25, 2013 from 8:30 a.m. to 12:00 p.m. ET at the Four Seasons Hotel in New York City. Members of PTC's senior management and research teams will provide a corporate update and in-depth reviews of the company's scientific platforms and R&D programs.A live webcast of the event will be available on the Events and Presentations page under the investor relations section of PTC Therapeutics' website at www.ptcbio.com. The presentation will be archived for 2 weeks following the presentation. It is recommended that users connect to PTC's website several minutes prior to the start of the webcast to ensure a timely connection.
Sarepta Therapeutics will host a webcast and conference call for the Duchenne community on Thursday, October 17, 2013, beginning at 12:00 p.m., Eastern Time (9…
If you have questions for Sarepta, you are encouraged to submit them prior to the webinar. Please email your questions to info@ParentProjectMD.org with the subject line "Sarepta webinar" by Monday, October 14 at 9 a.m. eastern.
The World Muscle Society Congress saw reports on a number of topics of interest to the community. On Thursday poster sessions covered advances in the next generation of exon-skipping and updates on various clinical trials.
A report from PPMD's VP of Research, Sharon Hesterlee.
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.
Since exon skipping modulates the amounts of dystrophin RNA transcripts (i.e. the DNA copies that are translated into protein), we wanted to study this in more detail. What we see is that much more dystrophin RNA and protein is produced in heart than skeletal muscle, and slightly more dystrophin in diaphragm than skeletal muscle. This may in part explain why exon skipping works less in heart than other muscles: if there is more transcripts, skipping levels will be lower even when similar amounts of antisense oligonucleotide (the exon skipping compound) end up in heart and a limb muscle (example: 10 AONs vs 100 dystrophin RNAs in e.g. calf muscle = 10% skip, but 10 AONs vs 1000 dystrophin RNAs in heart = 1% skip) (note that another part of the explanation is that antisense oligonucleotides reach the heart with lower efficiency, so this is part of the explanation, not the full explanation).
The next thing we show is that the dystrophin transcripts are not all complete, so the amount of transcripts containing exon 1/the beginning is higher than the amount of transcripts containing later exons/the end (and in order for the transcripts to be translated into a functional dystrophin, they have to be complete from start to end). The cause of this phenomenon (them not being complete) is not known. In healthy mouse muscle, there is a slight imbalance, in mdx muscle (without dystrophin) there is a much bigger imbalance (so the percentage of transcripts being incomplete is higher). When the reading frame is restored in mdx muscle by exon skipping, the imbalance is not restored. Also, in Becker patient muscles we see this imbalance - the level of imbalance is between that found in healthy muscle and muscle without dystrophin and varies a lot between Becker patients. To put it very simple, we find in Becker patients that the amount of dystrophin they produce relates not to the amount of dystrophin transcripts but to the amount of COMPLETE transcripts (this is very logical, but the imbalance of dystrophin has not been well studied, so we did not know this before).
Annemieke Aartsma-Rus has provided the following explanation to the recently published article in The FASEB Journal:
"DMD transcript imbalance determines dystrophin levels"
PTC Therapeutics, Inc., today announced the publication of data in PLOS ONE demonstrating that nonsense mutation Duchenne muscular dystrophy (nmDMD) patients treated with ataluren, an investigational new drug, experienced an increase in dystrophin expression. These data were obtained from PTC's Phase 2a open-label trial of ataluren in which change in full-length dystrophin expression, as assessed by immunofluorescent staining, was the primary endpoint.
Proactive Investors UK Summit Corp, Oxford University in Duchenne alliance Stock Market Wire StockMarketWire.com - Summit Corp, a drug discovery and development company advancing therapies for Duchenne Muscular Dystrophy (DMD) and C.
PTC Therapeutics, Inc., a biopharmaceutical company focused on the discovery and development of orally administered, proprietary small molecule drugs that target post-transcriptional control processes, today announced financial and corporate results for the quarter ended September 30, 2013.
Prosensa Holding N.V. (NASDAQ: RNA), the Dutch biopharmaceutical company focusing on RNA-modulating therapeutics for rare diseases with high unmet need, today announced the successful enrollment of the 100th patient into the Natural History Study of Duchenne muscular dystrophy (DMD).
The goal of this observational study is to characterize DMD at various stages of progression using the same measures used in ongoing clinical studies, such as the "six minute walk test." No medication is being tested in this study.
Pat Furlong of Parent Project Muscular Dystrophy kindly shared this whitepaper, ‘Benefit-Risk Assessments in Rare Disorders: The case for therapeutic development
Total Orphan Drugs covers PPMD's whitepaper.
We are excited to announce that Parent Project Muscular Dystrophy and Sarepta Therapeutics are joining forces on a genetic testing program for patients with Du…
We are excited to announce that PPMD and Sarepta Therapeutics are joining forces on a new genetic testing program for patients with Duchenne or Becker muscular dystrophy.Through this new program, called Decode Duchenne, we will provide genetic testing at no cost to eligible patients who are unable to access testing due to barriers such as a lack of or insufficient insurance coverage. Thank you to Sarepta Therapeutics for supporting this important initiative!
Prosensa answers questions related to their relationship with GSK and the compound drisapersen, as well as questions related to their ongoing development platform.
Prosensa will hold a conference call on Tuesday, October 8, 2013 at 11:00 a.m. ET to discuss recently-presented data on drisapersen, an investigational antisense oligonucleotide, for the treatment of Duchenne Muscular Dystrophy patients with an amenable mutation, which is exclusively licensed to GlaxoSmithKline (GSK).
Prosensa Chief Executive Officer Hans Schikan will be joined by Giles Campion, Prosensa's Chief Medical Officer & Senior Vice-President of Research and Development and Judith van Deutekom, Vice President of Drug Discovery to discuss the recently presented results from studies of drisapersen. These include results from DEMAND III (Phase III; DMD114044); DEMAND II (Phase II; DMD114117); DEMAND V (Phase II; DMD114876) and 177 week data from the Phase I/II extension study (DMD114673).
In order to participate in the conference call, please dial 1-877 280 2342 (US domestic) and refer to conference ID 2579927. International dial-in numbers and an audio webcast can be accessed under "Events & Presentations" through the Investors & Media section of the Prosensa corporate website www.prosensa.com.
Prosensa has provided the following update regarding the impact of the drisapersen phase 3 data on its programs: While we are disappointed and surprised with…
Nicox S.A. announced it has received a positive opinion from the European Union Committee for Orphan Medicinal Products recommending orphan drug designation for naproxcinod for the treatment of Duchenne Muscular Dystrophy. Final approval is expected from the European Commission in the coming months.