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PTC Therapeutics to Showcase Breadth of Pipeline at Upcoming R&D Day

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.

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Webinar: Sarepta - October 17

Webinar: Sarepta - October 17 | Duchenne Research | Scoop.it

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…

ParentProjectMD's insight:

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.

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World Muscle Society Congress: Next Generation Exon-Skipping & Clinical Trial Updates

World Muscle Society Congress: Next Generation Exon-Skipping & Clinical Trial Updates | Duchenne Research | Scoop.it

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.

ParentProjectMD's insight:

A report from PPMD's VP of Research, Sharon Hesterlee.

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Sarepta Therapeutics announces eteplirsen demonstrates continued stability on walking test through 96 weeks in Phase IIb study in Duchenne.

 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.

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GSK and Prosensa announce primary endpoint not met in Phase III study of drisapersen in patients with Duchenne

GSK and Prosensa announce primary endpoint not met in Phase III study of drisapersen in patients with Duchenne | Duchenne Research | Scoop.it
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Explanation: DMD transcript imbalance determines dystrophin levels

Explanation: DMD transcript imbalance determines dystrophin levels | Duchenne Research | Scoop.it

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).

 

ParentProjectMD's insight:

Annemieke Aartsma-Rus has provided the following explanation to the recently published article in The FASEB Journal:

"DMD transcript imbalance determines dystrophin levels"

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Prosensa Webinar

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News Release | sareptatherapeutics.com

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Sarepta Therapeutics Announces Publication of Eteplirsen Clinical Study Results in the Annals of Neurology

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PTC THERAPEUTICS TO HOST SECOND QUARTER 2013 FINANICAL RESULTS CONFERENCE CALL AND WEBCAST (NASDAQ:PTCT)

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Lilly’s erectile dysfunction drug Cialis could be contender as Duchenne therapeutic

Lilly’s erectile dysfunction drug Cialis could be contender as Duchenne therapeutic | Duchenne Research | Scoop.it

Eli Lilly’s (NYSE:LLY) Cialis (tadalafil) is viewed as a promising option for Duchenne’s muscular dystrophy (DMD), experts told BioPharm Insight. The drug’s selectivity for the enzyme phosphodiesterase type 5 (PDE5) as well as the way it is absorbed and distributed in the body could make it a better option for the genetic muscle-wasting disease than Pfizer’s (NYSE:PFE) Viagra (sildenafil), they noted.
 

A 306-patient Phase III study is expected to initiate this August, as per ClinicalTrials.gov. The trial will measure the erectile dysfunction (ED) drug’s ability to slow the decline of walking ability in ambulatory boys aged seven to 14. Phase II assessment of Viagra was suspended earlier this year when the data safety monitoring board determined it was unlikely to provide benefit to adult DMD heart and muscle function, with a potential risk for increased cardiac events.

Lilly will evaluate the data and submit to the FDA upon completion of the Phase III study, a company spokesperson said. Cialis was FDA-cleared in 2003, and Viagra saw approval for ED in 1998.

 
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Summit receives financial backing to find a treatment for Duchenne

Summit receives financial backing to find a treatment for Duchenne | Duchenne Research | Scoop.it

Drug developer Summit (LON:SUMM) has received further financial support for its quest to find a treatment for Duchenne Muscular Dystrophy, the rare muscle wasting disease that affects boys.
 

A total of A$1.25mln has been pledged by the Australian DMD foundation, Save Our Sons (SOS).
 

Summit will receive A$500,000 to support the manufacture of SMT C1100, which is what’s called a utrophin modulator that reduces muscle weakness.
 

A further A$750,000 will be paid if there is an Australian site for patient clinical trials.

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NIH Award Will Help Phrixus Pharmaceuticals Advance to Clinical Trials - Xconomy

NIH Award Will Help Phrixus Pharmaceuticals Advance to Clinical Trials - Xconomy | Duchenne Research | Scoop.it

University of Michigan spinoff Phrixus Pharmaceuticals has won an award from the National Institutes of Health (NIH) that will help the company advance to clinical trials for Carmeseal-MD, its developmental drug to treat cardiac and respiratory problems in patients with Duchenne muscular dystrophy.

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New mouse model reveals a mystery of Duchenne, Stanford scientists say | e! Science News

US researchers have developed a mouse model that accurately mimics the course of Duchenne muscular dystrophy.

 

The study, from Stanford University School of Medicine, is the first to demonstrate a molecular basis for the cardiac defect that is the primary killer of people with Duchenne muscular dystrophy.

 

Furthermore, the study provides evidence for a potential treatment to help prolong heart function. The mouse model also will allow researchers and clinicians to test a variety of therapies for the inherited condition.

 

"Until now, scientists had no animal model of Duchenne muscular dystrophy that manifests the symptoms of the cardiac disease that kills children and young adults with the condition," said Professor Helen Blau, director of the Baxter Laboratory for Stem Cell Biology and senior author of the study published in Nature Cell Biology.

 

"This has been a conundrum for three decades. We found that mice with moderately shortened telomeres and the Duchenne mutation exhibit profound cardiac defects and die at a young age, just like human patients."

 

The investigators found that the reason humans suffer more serious symptoms than mice has to do with the length of the protective caps, called telomeres, on the ends of chromosomes: Mice have telomeres about 40 kilobases in length, while human telomeres range from around 5 to 15 kilobases (a kilobase is 1,000 nucleotides). When the investigators introduced a second mutation in the animals that reduced telomere length to more closely match that of humans, the animals began to display the typical symptoms of the disease, including progressive muscle weakness, enlarged hearts and significantly shortened life spans.

 

Duchenne muscular dystrophy is the most prevalent form of the heritable muscular dystrophies. It is caused by mutations in the dystrophin gene that inhibit the production of the dystrophin protein, which connects the inside of the muscle cell to the outside matrix. The new mouse model showed that, in the absence of the dystrophin protein, the animals' heart muscle cells accumulate stress and damage due to repetitive contraction. Early treatment of a small group of animals with antioxidants protected their heart function and prolonged their lives.

 

Interestingly, cells in the animals from tissues that normally express dystrophin had telomeres much shorter than those in other tissues in the body that don't rely on the protein. This discovery indicates that the lack of the protein further exacerbates telomere shrinking — a fact borne out when the researchers compared affected mice and humans.

 

"Telomeres in heart muscle cells from four young men who had died of Duchenne muscular dystrophy were about half the length of control samples," said lead author Foteini Mourkioti.

 

"Essentially, the heart cannot contract well," said Mourkioti, who performed a variety of functional and imaging tests, including electrocardiograms, echocardiography and MRIs, on mice in the study.

When she looked at the heart muscle cells, or cardiomyocytes, of animals with the two mutations, she found damage to the cells' energy generators, or mitochondria, along with several signs of oxidative stress.

 

To test their theory, Blau and Mourkioti treated affected animals with two different antioxidants to neutralise the reactive oxygen species — one provided in the animals' diet and another injected into the abdomen. In each of the two groups, the 10 treated animals exhibited improvements in heart function and life span when compared to 10 control animals.

"We began the treatment when the animals were 8 weeks old, before they had begun to develop cardiac symptoms of the disorder," Blau said. "But it may be that treatment even earlier would have an even more marked effect."

 

Although very encouraging, researchers caution that further studies are required to determine the effect of early antioxidant treatment on patients with Duchenne muscular dystrophy.

 

"The important thing is that we finally have a mouse model with which we can begin testing a number of potential therapies," Blau said. "Until now, no one really understood the cardiac basis of the disease, and clinicians have been prescribing nonspecific treatments. Now we can develop more specific drugs for patients that target the cause of their cardiac dysfunction."

 

The new mouse model may also be applicable to the study of other inherited conditions.

 

"Seeing this in the heart gave us new insight," said Blau. "It's possible that the effect of shortened telomeres may be relevant to diseases other than that caused by Duchenne muscular dystrophy. Many mouse models that now fail to recapitulate human diseases may be improved by similar shortening of telomeres."

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How to Decode Duchenne

How to Decode Duchenne | Duchenne Research | Scoop.it
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…
ParentProjectMD's insight:

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!

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Prosensa Q&A

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Prosensa answers questions related to their relationship with GSK and the compound drisapersen, as well as questions related to their ongoing development platform.

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Prosensa to Host Conference Call to Discuss Recent Drisapersen Data Presentations

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.

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Impact of Drisapersen Phase 3 Data on Prosensa Programs

Impact of Drisapersen Phase 3 Data on Prosensa Programs | Duchenne Research | Scoop.it
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…
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Nicox Receives Positive Opinion for European Orphan Drug Designation for Naproxcinod for the Treatment of Duchenne Muscular Dystrophy

Nicox Receives Positive Opinion for European Orphan Drug Designation for Naproxcinod for the Treatment of Duchenne Muscular Dystrophy | Duchenne Research | Scoop.it

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.

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New Evidence Published in Muscle and Nerve on Measuring 6-Minute Walk Distance in Duchenne Muscular Dystrophy - WSJ.com

New Evidence Published in Muscle and Nerve on Measuring 6-Minute Walk Distance in Duchenne Muscular Dystrophy - WSJ.com | Duchenne Research | Scoop.it
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PPMD to Fund $1 Million in Exon Skipping Projects

PPMD to Fund $1 Million in Exon Skipping Projects | Duchenne Research | Scoop.it
PPMD announced today that it will fund up to $1 million in projects by mid-2014 focused on the development of antisense oligonucleotides or other techniques to…
ParentProjectMD's insight:
As results for the leading exon 51 compounds continue to appear promising, the urgency has increased to expand the technique to correct less common deletions and to develop methods for skipping multiple exons that could also be applied to some duplications, as well as deletions. PPMD's mission is, and has always been, to help all people with Duchenne. We want to help maintain the momentum of this technology and encourage researchers to expand to additional exons and other mutations affecting our community.
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Summit Corporation secures US patent | 7 August 2013 | Stock Market Wire

Summit Corporation secures US patent | 7 August 2013 | Stock Market Wire | Duchenne Research | Scoop.it
Summit Corporation secures US patent
ParentProjectMD's insight:

Congratulations to Summit for securing a US patent for SMT C1100. PPMD is proud to have been an early supporter of this research.

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DMD: Exon-Skipping Timeline | Quest Magazine Online

DMD: Exon-Skipping Timeline | Quest Magazine Online | Duchenne Research | Scoop.it
ParentProjectMD's insight:

A timeline on Exon-Skipping from MDA.

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Sarepta Therapeutics Announces Plans to Submit New Drug Application to FDA for Eteplirsen for the Treatment of Duchenne in First Half of 2014

Sarepta Therapeutics today announced it plans to submit a New Drug Application (NDA) to the U.S. Food and Drug Administration (FDA) in the first half of 2014 for the approval of eteplirsen for the treatment of Duchenne muscular dystrophy (DMD). Eteplirsen is Sarepta's lead exon-skipping compound in development for the treatment of patients with DMD who have a genotype amenable to skipping of exon 51.

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DART Therapeutics Initiates Study of HT-100 For Duchenne

DART Therapeutics Initiates Study of HT-100 For Duchenne | Duchenne Research | Scoop.it

DART Therapeutics Inc., has initiated a phase 1b/2a study of its lead drug candidate, HT-100 (delayed-release halofuginone). The phase 1b study (with a six-month 2a extension) in patients will determine the safety and tolerability of different, increasing doses of HT-100, and explore trends in a range of efficacy endpoints.
 

HT-100 is an orally available, small molecule drug candidate intended to reduce fibrosis and inflammation and promote healthy muscle fiber regeneration in boys with DMD. The phase 1b/2a clinical program will enroll 30 boys and young men with DMD, both ambulatory and non-ambulatory. Participating centers include University of California, Davis Medical Center (Sacramento, Calif.), Kennedy Krieger Institute, Johns Hopkins School of Medicine (Baltimore, MD), Washington University School of Medicine (St. Louis, MO), Cincinnati Children’s Hospital Medical Center (Cincinnati, Ohio) and Nationwide Children’s Hospital (Columbus, Ohio). DART expects to complete the study in mid 2014.

DART’s study will include boys aged six through 20, an atypical age range that allows investigators to evaluate HT-100’s safety in a broad population as well as study its effect in different disease stages. Researchers will also evaluate a new endpoint that could make DMD studies faster, more precise, less expensive and inclusive of a larger group of boys. Presently, the six-minute walk (6MW) is the standard endpoint for DMD studies. However, the 6MW has shortcomings including variability and difficulty interpreting the clinical relevance of a given effect size. It also limits study participants to boys who can walk at a certain speed. There are no validated endpoints for very young boys with DMD. The proposed endpoint, electrical impedance myography (EIM), is a simple, non-invasive technique that can measure the health of a muscle and track its changes over time. As a validated endpoint for DMD, EIM would allow researchers to include a wide range of boys in studies and more effectively and rapidly understand how well a treatment is working to halt disease progression. 

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First Patient Dosed in Halo Therapeutics' HT-100 Trial

Dear Halo supporters,

 

I am pleased to share our attainment of another crucial milestone.  This morning, at a little after 7 a.m. EDT, we dosed the first patient in the HT-100 DMD clinical program.  So far, so good.  We now have 3 of our 5 clinical sites open, and a fourth opening later this month.  All six patients in the first cohort have been identified and scheduled for screening and dosing, and the first patients in our second cohort (of 5) have been identified.

 

Our goal when we established Halo was to quickly explore the potential of halofuginone in boys suffering from DMD.  Today, we have taken a major step forward in achieving that goal.

 

Any progress with HT-100 is entirely attributable to you, the DMD patient community.  Because of your commitment, vision, and vital financial support, we have been able to remain focused on our goal of developing this potentially valuable therapy for DMD boys.  We have made significant progress to get to the start of this clinical program, but as you know much work remains to be done.  Therefore, we are seeking your continued support so we can maintain our focus and pace.

 

Thank you to all of you who have made getting to this point possible, and a particular thank you to those who have already committed to support further clinical development of HT-100 in 2013.

 

With gratitude for your support,

Marc

 

Marc B. Blaustein

CEO

Halo Therapeutics

 

ParentProjectMD's insight:

Yesterday we received the following email from Halo Therapeutics CEO, Marc Blaustein, announcing the first dosing in the HT-100 clinical trial. Another step forward for another promising therapy PPMD is proud to support!

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