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Positive results in the gene therapy micro-dystrophin trial to treat DMD

One of the objectives of our team is to inform you about new treatments. Here’s the latest news from Sarepta Therapeutics. They announce that at the 23rd International Congress of the World Muscle Society, Jerry Mendell, M.D., presented positive updated results from the four children dosed in the gene therapy micro-dystrophin trial to treat patients with Duchenne Muscular dystrophy. Enjoy reading and thank you for sharing these articles within the DMD community. -Press release from Sarepta Therapeutics: Sarepta news release.

 

A quick overview of gene therapy micro-dystrophin

This therapy uses a virus (the adeno-associated virus, or AAV) to deliver the micro-dystrophin, a shorter version of the dystrophin gene, which contains the minimum amount of information needed to produce a functional protein of dystrophin.* We are hopeful that, one day, micro-dystrophin will be a viable treatment for Duchenne muscular dystrophy (DMD).

 

What are the positive results?

  • Robust expression of micro-dystrophin
  • A significant decrease in creatine kinase (CK)
  • Improvements in all measured functions,
  • No serious adverse events (SAEs) were observed in the study.
  • Press release from Sarepta Therapeutics: Sarepta news release.

 

Words from Dr. Mendell

“The goal of this study was to validate what we observed in preclinical models. We observed efficient transduction of our vector, AAVrh74, to all muscle types; robust expression in skeletal muscles via the MHCK7 promoter; a reduction in creatine kinase levels; and a favorable safety profile. Similar to preclinical models, we also observed in this early study that robust expression has the potential to positively impact the natural course of disease progression.”

 

Words from Doug Ingram, Sarepta’s president and chief executive officer

“The encouraging results that we previously saw and reinforced in the fourth patient strengthen our resolve to rapidly move to a confirming trial and, assuming successful, to bring this therapy to the Duchenne community around the world with a sense of urgency.”

 

Words from Mr. Ingram

“These results create for us an obligation to patients around the globe living with and being damaged by this cruel disease. We are investing our energy, resources and creativity to moving the development forward, planning meetings with the FDA and other agencies around the world to take their input, building compelling access and reimbursement package, and establishing sufficient manufacturing capacity to fully serve the community if our program is successful.”

 

About DMD

Duchenne muscular dystrophy (DMD) is a disease that almost exclusively affects boys and whose incidence is 1 in 3,500. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls. Those affected are usually diagnosed around the age of five, but symptoms may be visible from early childhood. It is a degenerative disease of the muscles caused by a genetic mutation. The Duchenne muscular dystrophy (DMD) – for which no treatment is currently available – directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families.

 

About Sarepta Therapeutics

Sarepta Therapeutics is a commercial-stage biopharmaceutical company focused on the discovery and development of precision genetic medicine to treat rare neuromuscular diseases. The Company is primarily focused on rapidly advancing the development of its potentially disease-modifying Duchenne muscular dystrophy (DMD) drug candidates. For more information, please visit www.sarepta.com.

 

More Links

La Force VLOG: Sarepta, grounded in the DMD community

Source: Sarepta Therapeutics, Inc.

Press release from Sarepta Therapeutics: Sarepta news release

Clinical trial: clinicaltrials.gov

*Muscular Dystrophy News Today: Microdystrophin Gene Therapy Shows Promising Interim Results in Phase 1/2 Trial

La Force BLOG: Gene therapy and exon skipping

La Force BLOG: Gene replacement therapy

“Chimeric cells” for DMD?

Cells Restoring dystrophin in DMD

We’ve set a goal for ourselves of informing you about new treatments for Duchenne muscular dystrophy (DMD). Here are some very promising results: new research conducted by Dr. Maria Siemionow, professor of orthopedic surgery in the UIC College of Medicine. Good reading and thank you for sharing these articles within the DMD community.

 

What is the role of dystrophin in Duchenne muscular dystrophy (DMD)?

Duchenne muscular dystrophy (DMD) is a degenerative muscle disease caused by a genetic mutation. Duchenne muscular dystrophy (DMD)—for which no treatment is currently available—directly affects the muscles. The simplest way to explain this disease is that a genetic mutation (i.e. a genetic defect) affects the gene responsible for the production of dystrophin. This genetic defect prevents the gene from producing dystrophin. In the absence of dystrophin, the muscles degenerate and become atrophied.

 

What are “chimeric cells”?

These cells, called “chimeric cells,” are made by combining a normal donor cell containing a functional copy of the dystrophin gene with a cell from a recipient with the disease. These cells were able to significantly improve muscle function when implanted into the muscles of a mouse model of the disease.

 

Research with promising results

Dr. Maria Siemionow, professor of orthopedic surgery in the UIC College of Medicine, and her team used “chimeric cells” in a study of model mice with DMD. The results are excellent: the boosted dystrophin levels by 37 percent and improved muscle function when implanted into the muscles of a mouse model of Duchenne muscular dystrophy. These cells remained viable and produced dystrophin for 30 days.

 

“Our results point to the long-term survival of these cells and helps establish the use of chimeric cells as a novel promising potential therapy for patients with Duchenne muscular dystrophy,” Siemionow said.

 

Clinical trials for on humans forthcoming

Dr. Maria Siemionow also mentioned that her team is looking forward to clinical trials in humans shortly. She went on to say:

 

“We are restoring dystrophin in such a way that the recipient won’t need to take anti-rejection therapy because the implanted chimeric cells can evade the recipient’s immune system. In traditional stem cell therapy, the implanted cells are 100 percent ‘other’ and anti-rejection medicine is needed in order to prevent the host immune system from destroying those foreign cells.”

 

How do chimeric cells work on humans?

If these cells were to be used to treat a patient with Duchenne muscular dystrophy, then normal muscle cells from the father or a close relative of the recipient would be fused with muscle cells from the patient. In contrast, chimeric cells can trick the recipient’s immune system into ignoring them. In lab tests, it was possible to bring the chimeric cells to express dystrophin.

Maria and Kris Siemionow, who are mother and son, have recently launched a company to develop their chimeric cells into a therapy to treat Duchenne muscular dystrophy called Dystrogen Therapeutics. The development of such a therapy is captivating, and its evolution deserves to be followed.

 

External links and special thanks to:

Dystrogen.com: Clinical stage regenerative medicine company

Scicasts.com: Human “Chimeric” Cells Restore Crucial Protein in Duchenne Muscular Dystrophy 

Springer Link: Dystrophin Expressing Chimeric (DEC) Human Cells Provide a Potential Therapy for Duchenne Muscular Dystrophy

UIC College of Medicine

 

 

 

 

Jérôme Frenette: OPG for DMD

Jérôme Frenette: OPG for DMD

Professor Jérôme Frenette, himself lost two of his children due to a genetic disease. It’s, therefore, a decision from the heart that leads him to conduct today his research program on inherited diseases, like Duchenne Muscular Dystrophy (DMD). Professor Frenette understands very well the suffering of the people afflicted with the disease and their families. This understanding provides him with an additional motivation to conduct his work. This is an excellent conclusion to our web video series “Portrait of DMD.” We hope it will help you understand the functions and benefits of osteoprotegerin for DMD.

 

Jérôme Frenette: «I’ve lost two children to a genetic disease and I know very well what parents are currently experiencing with Duchenne muscular dystrophy, the suffering, the stress caused and the hope that is linked to these diseases. »

 

About Jérôme Frenette

Professor Jérôme Frenette is a researcher with a background in physical therapy and post-graduate training in muscle physiology and immunology at the University of California in Los-Angeles. The focus of his research program is to understand the link between osteoporosis and muscle atrophy/disease through one common pathway, i.e. the RANK/RANKL/OPG pathway. His team is developing new drugs that would potentially alleviate, in tandem, osteoporosis and muscle degeneration in Duchenne muscular dystrophy patients or other forms of bone and muscle diseases.

 

Can you explain your osteoprotegerin (OPG) research project?

Jérôme Frenette: We are working on the role of a protein, a protein that protects the bone, and we are interested in this protein. The big question is: could this bone protein also preserve muscle tissue? We know that the phenomenon of atrophy, of muscular dysfunction, happens at the same time as osteoporosis, so we tried to group these two diseases, bone, muscle, with a single protein which is osteoprotegerin, which, as its name says, protects the bone, and our work demonstrates that it also protects muscle tissue.

 

What would be the benefits of this treatment for DMD?

Jérôme Frenette: The benefit that these children could have in the very short term is to gain strength. Our work shows that there are very significant strength gains. The degeneration process, which begins at birth and continues until 20-25 years, could be delayed for several years. So, with a bone protein, we could succeed in protecting the muscle and the bone with our treatment.

 

When are the clinical trials for patients?

Jérôme Frenette: We’re relatively lucky because the molecule is relatively well characterized. Work has been done with a well-known company, Amgen, who have developed this protein. They even brought it to clinical trials in postmenopausal women. So, I think we can go much faster because there have already been clinical trials on this protein. A window of approximately 2 to 5 years may be considered for clinical treatment in children.

 

More information about Professor Jérôme Frenette: Centre de recherche du CHU de Québec

 

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More Links

 

Understanding CRISPR/Cas9 with Jacques P. Tremblay

Canadian Research series

This video series of interviews features Canadian scientists who work on solutions for Duchenne muscular dystrophy (DMD). We wish to connect you – the DMD community – with these scientists. You’ll be delighted to learn about their motivation and dedication to this cause. In turn, they appreciate knowing more about our community, because we’re the people who are impacted by their discoveries. We hope that the interviews will help to foster an understanding of scientific concepts that aren’t always easy to grasp.

 

CRISPR/Cas9 Research

Right now, Jacques P. Tremblay is doing things he couldn’t dream off five years ago… This is the reason why is not retiring yet. He is hoping to find a treatment for DMD before retirement.  We wish to connect you, the DMD community, with the professors. You will be delighted to know their deepest motivation and devotion. They love to know your face; you are the people that will be impacted by their discovery.  We hope this video will be a good medium for understanding how CRISPR/Cas9 technology work, as related to DMD.

 

Jacques P. Tremblay  “The main message of hope that I can deliver to families is that research is progressing fantastically. Right now, I’m doing things I couldn’t dream of doing five years ago. This is why I’m not retiring yet.”

 

About Professor Jacques P. Tremblay

Jacques P. Tremblay received a B.Sc. in Biochemistry from McGill University in 1970, and a Ph.D. in Neuroscience from UCSD (University of California in San Diego) in 1974. From 1975 to 1976, he was a postdoctoral fellow at the Laboratory of Neurobiology of l’Hôpital de l’Enfant-Jésus. His group is currently using CRISPR/Cas9 technology to correct the dystrophin gene, creating an additional deletion to produce a hybrid exon of the dystrophy gene, which not only restores the expression of dystrophin but also produces dystrophin with a regular structure.

 

What is CRISPR/Cas9 technology?

Jacques P. Tremblay: CRISPR/cas9 is a technology that was first identified in bacteria. Bacteria were using this to cut up the genome of the viruses that were infecting them. About five years ago, researchers noticed that this technology allows, not only to cut up virus genes but that it can also cut genes in animals, plants and especially in humans.

 

How does CRISPR/Cas9 technology work, as relates to DMD?

Jacques P. Tremblay: As for now, for Duchenne muscular dystrophy, we primarily use an approach which aims to cut at one or two locations to take off a part of the gene sequence. This can be surprising, but it can allow restoring expression of dystrophin, the missing protein. So, in the long run, what we hope to do with CRISPR/Cas9 technology is to develop a gene therapy pour children affected by Duchenne muscular dystrophy.

 

When are the clinical trials for patients?

Jacques P. Tremblay: Personally, I’m an optimist, and I think we can start clinical trials for Duchenne muscular dystrophy, in about three or four years. This will be a clinical trial that we’ll do on ten patients. And will need to have a clinical trial on a more significant group of patients, before it becomes available.

More information about Professor Jacques P. Tremblay: Centre de recherche du CHU de Québec

 

Connect to our Canadian Research Series

An effective way to be informed and to receive our videos right out of the box is to sign up here for our newsletter.

 

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Solid Biosciences announces new preclinical data about gene transfer

 

One of the objectives of our team is to inform you about new treatments. Here’s the latest news from a recent Solid Bioscience press release about SGT-001, the Company’s lead microdystrophin gene transfer candidate. Enjoy reading and thank you for sharing these articles within the DMD community.

 

Solid Biosciences announces new preclinical data at the American Society of Gene and Cell Therapy Annual Meeting

Solid Biosciences Inc. announced new preclinical data from its gene therapy development programs for Duchenne muscular dystrophy (DMD). New data for SGT-001 further demonstrate its potential to produce long-term and body-wide microdystrophin expression that correlates with significant improvements in muscle function.

 

“Solid remains steadfast in our mission to bring important therapies to patients with DMD, where a significant unmet need exists. These data further support the investigation of SGT-001 as a potential new treatment option for those living with this devastating disease, as well as reinforce our commitment to advancing cutting-edge innovations through our next generation gene therapy pipeline,” said Carl Morris, Ph.D., Chief Scientific Officer of Solid Biosciences.

 

 

About SGT-001

SGT-001 is a novel adeno-associated virus* (AAV) vector-mediated gene transfer under investigation for its ability to address the underlying genetic cause of DMD. SGT-001 is a systemically administered* candidate that delivers a synthetic dystrophin gene, called microdystrophin, to the body. This microdystrophin encodes for a functional protein surrogate that is expressed in muscles and stabilizes essential associated proteins.

  • Adeno-associated virus > is a small virus which infects humans and some other primate species. Link
  • Systemically administered > Systemic forms of administration affect the whole body (in general).

Data from Solid’s preclinical program suggests that SGT-001 has the potential to slow or stop the progression of DMD, regardless of genetic mutation or disease stage. SGT-001 is based on pioneering research in dystrophin biology by Dr. Jeffrey Chamberlain of the University of Washington and Dr. Dongsheng Duan of the University of Missouri.

 

Status

SGT-001 has been granted Rare Pediatric Disease Designation or RPDD in the United States and Orphan Drug Designation in both the United States and European Union. The Phase I/II clinical trial for SGT-001, IGNITE DMD, is currently on clinical hold. Microdystrophin gene transfer trial on hold

 

About Solid Biosciences

Solid Biosciences is a life science company focused solely on finding meaningful therapies for Duchenne muscular dystrophy (DMD). Founded by people touched by the disease, Solid Biosciences is a center of excellence for DMD, bringing together experts in science, technology and care to drive forward a portfolio of candidates that have life-changing potential. Currently, Solid Biosciences is progressing from programs across four scientific platforms: corrective therapies, disease-modifying therapies, disease understanding and assistive devices. For more information, please visit this website: www.solidbio.com.

 

About DMD

Duchenne muscular dystrophy (DMD) is a disease that almost exclusively affects boys and whose incidence is 1 in 3,500. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls. Those affected are usually diagnosed around the age of five, but symptoms may be visible from early childhood. It is a degenerative disease of the muscles caused by a genetic mutation. The Duchenne muscular dystrophy (DMD) – for which no treatment is currently available – directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families.

 

To know more

SOLID BIOSCIENCES INITIATES CLINICAL TRIAL FOR GENE TRANSFER

GLOBE NEWSWIRE: Solid-Biosciences-Announces-New-Preclinical-Data-at-the-American-Society-of-Gene-and-Cell-Therapy-Annual-Meeting

STAT3 a new research to treat DMD

Canadian Research series

This video series of interviews features Canadian scientists who work on solutions for Duchenne muscular dystrophy (DMD). We wish to connect you – the DMD community – with these scientists. You’ll be delighted to learn about their motivation and dedication to this cause. In turn, they appreciate knowing more about our community, because we’re the people who are impacted by their discoveries. We hope that the interviews will help to foster an understanding of scientific concepts that aren’t always easy to grasp.

 

Meet the Gunning Group

We met and interviewed Patrick Gunning, Ph.D., who leads the Gunning Group, and one of his Ph.D. students, Yasir Raouf. Professor Gunning holds a Canada Research Chair in Medicinal Chemistry and is Director of the Centre for Medicinal Chemistry, Department of Chemical and Physical Sciences, at the University of Toronto’s Mississauga campus.

The Gunning Group is a team of scientists who pursue projects that focus on drug discovery. They work at the molecular level to design new drugs. Their goal is to develop better treatments and diagnostic options for devastating and under-explored human diseases. One of those diseases is DMD.

Dr. Gunning: “Yasir and myself are very motivated to try and see whether a STAT drug would work in DMD,”

 

What to know about STAT3

Their research targets STAT3, a protein that plays an essential role in cell regeneration. STAT3 is a transcription factor that controls or regulates, to some extent, how cells proliferate or grow and divide.

That’s very relevant to DMD, says Yasir Raouf. In DMD, muscle cell regeneration is poor. “Usually in humans, when your muscle cells die, they regenerate, and you get new muscles. If you have DMD, that regeneration is slow or nonexistent.”

If you can control STAT3, you can control the regenerative capacity of muscle cells, he believes.

 

What’s the timeline for development of this treatment?

Over the last decade, the Gunning Group developed a STAT3 drug that inhibits this protein. Over the next two years, they plan to test its effectiveness in mouse models. They will study how it affects muscle cell proliferation in mice over an extended period. For this work, they will collaborate with Dr. Michael Rudnicki, Professor and holder of a Canada Research Chair in Molecular Biology at the University of Ottawa.

 

Words of hope for the DMD community

Dr. Gunning has a message for families in the DMD community: “It’s very important to raise awareness for this disease.”

He urges families to highlight to the industry that people need help and new drugs to treat this orphan disease. “If money and efforts in research are put towards this disease, I’m very confident that academics like myself or industry can find something that will spare the lives of these children.”

Yasir Raouf hopes that we will soon live in a world that has cured DMD.“That’s what I hope for. That’s what I work for.”

 

More about the Gunning Group: http://www.gunninggroup.ca

 

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Capricor initiates HOPE-2 clinical trial

One of the objectives of our team is to inform you about new treatments. Here’s the latest news from a recent press released by Capricor which announces the clinical trial HOPE-2. Enjoy reading and thank you for sharing these articles within the DMD community.

CAP-1002 aim to maintain or improve cardiac and skeletal muscle function

Capricor’s lead candidate, CAP-1002, is a cell therapy that is currently in clinical development for the treatment of Duchenne muscular dystrophy (DMD). CAP-1002 is an allogeneic product, meaning that it is manufactured from donor heart tissue and then stored until needed for use. CAP-1002 consists of allogeneic cardiosphere-derived cells, or CDCs, a unique population of cells that contains cardiac progenitor cells. CAP-1002 has been shown to exert potent immunomodulatory activity and alters the immune system’s activity to encourage cellular regeneration. CDCs have been the subject of over 100 peer-reviewed scientific publications and have been administered to approximately 140 human subjects across several clinical trials.

Status by the FDA

CAP-1002 has been granted orphan drug designation by the FDA for the treatment of DMD.

About the HOPE study

Capricor’s previous clinical trial, the HOPE-Duchenne trial, evaluated the safety and efficacy of a single dose of CAP-1002 in boys and young men with heart disease related to Duchenne muscular dystrophy. It found CAP-1002 was safe, well tolerated and demonstrated significant and sustained signals of improvement in cardiac and skeletal muscle function.

HOPE 2

Participants in the HOPE-2 trial will be randomized to receive either placebo or CAP-1002, delivered intravenously every three months for a total of 4 administrations. Participants will be followed for a yearlong period following randomization, and an open-label extension (OLE) study is planned. The trial evidence should suggest an appropriate risk/benefit profile of CAP-1002 in the medical indication. Capricor – HOPE-2

Where is the trial?

The medical center in Sacramento is the first site in the nation to begin enrolling and treating participants. Approximately 12 to 15 investigative sites are expected to participate in the trial.

About Capricor

Capricor Therapeutics is a clinical-stage biotechnology company focused on the discovery, development and commercialization of first-in-class biological therapeutics for the treatment of rare disorders. Capricor’s lead candidate, CAP-1002, is an allogeneic cell therapy that is currently in clinical development for the treatment of Duchenne muscular dystrophy.

What is DMD?

Duchenne muscular dystrophy (DMD) is a disease that almost exclusively affects boys and whose incidence is 1 in 3,5000. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls. Those affected are usually diagnosed around the age of five, but symptoms may be visible from early childhood. It is a degenerative disease of the muscles caused by a genetic mutation. The Duchenne muscular dystrophy (DMD) – for which no treatment is currently available – directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families.

For more information:

Rare Disease Report

GlobeNews Wire – Press Release

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Edasalonexent: Positive results and no side effects

One of the objectives of our team is to inform you about new treatments. Here’s the latest news from a recent Catabasis press release about edasalonexent. Enjoy reading and thank you for sharing these articles within the DMD community.

The MoveDMD trial through 48 weeks of edasalonexent treatment

 

“ We believe that these effects will ultimately translate to boys with Duchenne maintaining functional abilities longer.”

Said Jill C. Milne, Ph.D., Chief Executive Officer of Catabasis, in a press release this week.

The fact that no evidence of side effects or safety has been observed after more than 37 patient-years of exposure to treatment is also encouraging.

What is Edasalonexent?

Edasalonexent (CAT-1004)  is being developed as a potential foundational disease-modifying therapy for all patients affected by DMD, regardless of their underlying mutation. It is an investigational oral small molecule. Edasalonexent inhibits NF-kB, a protein that is activated by DMD and drives inflammation and fibrosis, muscle degeneration and suppresses muscle regeneration.

You can watch our video here to have a more in-depth explanation about the basis of this treatment.

 

Positive results:

Statistically significant improvement was observed compared to the off-treatment control period. These improvements show a slowing of disease progression and are in addition to the improvements found in all assessments of muscle function through more than a year of edasalonexent treatment.

What’s next?

Catabasis is preparing for a Phase 3 trial that will enroll approximately 125 boys with DMD between the ages of 4-7 years old regardless of mutation type and who have not been on steroids for at least six months. It is planned to be a single, global, placebo-controlled Phase 3 trial with two boys receiving edasalonexent for every one boy receiving placebo. After 12 months in the trial, all boys are expected to receive edasalonexent in an open-label extension.

Approbation in the US: FDA Status

The FDA has granted orphan drug, fast track and rare pediatric disease designations and the European Commission has granted orphan medicinal product designation to edasalonexent for the treatment of DMD. For a summary of clinical results reported to-date, please visit www.catabasis.com.

About DMD

Duchenne muscular dystrophy (DMD) is a disease that almost exclusively affects boys and whose incidence is 1 in 3,500. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls. Those affected are usually diagnosed around the age of five, but symptoms may be visible from early childhood. It is a degenerative disease of the muscles caused by a genetic mutation. The Duchenne muscular dystrophy (DMD) – for which no treatment is currently available – directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families.

For more information:

More information about the trial:  DMDtrials@catabasis.com and Catabasis -clinical trials

More: Portrait of Duchenne – edasalonexent cat-1004 – La Force DMD

Press release: www.catabasis.com

Business Wire: www.businesswire.com

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A clinical trial on utrophin modulation is completed

One of the objectives of our team is to inform you about new treatments. You can catch up on the last news in the latest press release by Summit Therapeutics company about ezutromid, a utrophin modulation. We wish you a happy reading and thank you for sharing those articles within the DMD community.

 

“PhaseOutDMD” clinical trial for ezutromid is completed

“We believe the early improvements seen in muscle health in the interim data from PhaseOut DMD indicate ezutromid is reducing DMD disease severity. In the full trial results, we aim to see continued utrophin modulation and sustained changes in magnetic resonance parameters. These results, if positive, could form the basis of a regulatory filing of ezutromid, bringing this universal treatment to patients more rapidly.”

Said Dr. David Roblin, Chief Medical Officer and President of R&D of Summit.

What is “PhaseOutDMD”?

PhaseOut DMD is a Phase 2 open-label, multi-centre trial of the Company’s utrophin modulator, ezutromid, in patients with DMD. Previously announced 24-week interim data from PhaseOut DMD showed evidence of activity across three different measures. Specifically, ezutromid:

• Maintained the production of utrophin, a naturally occurring protein that can potentially substitute for dystrophin, as measured by muscle biopsy;

• Significantly and meaningfully reduced muscle damage, as measured by muscle biopsy; and

• Significantly reduced muscle inflammation, as measured by magnetic resonance.

What is utrophin?

The human body naturally produces utrophin, a protein, when a muscle is first forming or when a muscle is repairing. As a muscle matures, dystrophin replaces utrophin. However, in people with Duchenne muscular dystrophy (DMD), dystrophin does not function properly. Utrophin is functionally and structurally similar to dystrophin. Preclinical trials that have simulated sustained utrophin production have shown that it could potentially replace dystrophin in people with Duchenne muscular dystrophy (DMD). The replacement of dysfunctional dystrophin with functional utrophin might have a highly positive impact on muscle performance.

Summit Therapeutics believes that utrophin may slow or even stop the progression of DMD.

 

This video explains what is utrophin.

About Summit Therapeutics

Summit is a biopharmaceutical company focused on the discovery, development and commercialization of novel medicines for indications for which there are no existing or only inadequate therapies. Summit is conducting clinical programmes focused on the genetic disease Duchenne muscular dystrophy and the infectious disease C. difficile infection. Further information is available at www.summitplc.com and Summit can be followed on Twitter (@summitplc).

What is DMD?

Duchenne muscular dystrophy (DMD) is a disease that almost exclusively affects boys and whose incidence is 1 in 3,5000. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls. Those affected are usually diagnosed around the age of five, but symptoms may be visible from early childhood. It is a degenerative disease of the muscles caused by a genetic mutation. The Duchenne muscular dystrophy (DMD) – for which no treatment is currently available – directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families.

Useful links

Here are a few additional links including the initial news release of the Summit Therapeutics company.

Link to the news release: www.summitplc.com

Link to additional information on utrophin modulation:

Positive data about utrophin modulator – La Force DMD

Portrait of Duchenne – Utrophin modulator – La Force DMD

 

  • 2018 > Summit Therapeutics ends development of ezutromid therapy for DMD after trial failure. Read more here.
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Portrait of Duchenne – Every action counts!

A chance encounter launched groundbreaking DMD research

When Max Sedmihradsky was two-years-old, he received the DMD diagnosis. The news was devastating beyond words for his parents Kerry and Andrew. After a moment of profound sadness, Andrew came up with the idea for Max’s Big Ride. Every year he cycles between Ottawa and Hamilton, Ontario, with Max in front of the cargo bike. The ride aims to raise funds and awareness for Duchenne muscular dystrophy.

Andrew works at the University of Toronto, where the researcher Patrick Gunning also works. Andrew took the chance to reach up to him to see if he would do some research for DMD. At that time, Patrick Gunning reached out to his graduate students to start a research on DMD. They found out that the cell they are working on, “Stat 3”, plays a decisive role in DMD. A year later, after this chance encounter, the Gunning Group received a $300,000 grant and are performing ground-breaking research for DMD. This is the story of Max’s Big Ride and the Gunning Group.

 

 

Quotes from video

Magic happened

Andrew Sedmihradsky: “You know, it’s the very random kind of thing that happened and the fact that I work in the building where there is a man who potentially could have the cure for Duchenne is tremendous”

 

Kerry Sedmihradsky: “Patrick Gunning is a researcher at the University of Toronto where Andrew works. And Andrew attended a talk which mention the research that Patrick was doing and for what he has told me, he is kind of the rock star of researchers at the University of Toronto”

 

Patrick Gunning, Associate Professor: “Would you be interested in looking at developing drugs for Duchenne?’’ And I said: “Well, we are typically oncology based and I don’t think that the targets that we make drugs for are involved in Duchenne.” I asked my graduated student Yasir to investigate whether STAT proteins in particular were involved in Duchenne.”

 

A ride of hope: Max’s Big Ride

Andrew Sedmihradsky: “You know, a few days into it, we just went on a family trip to the museum and I remember in the gift shop seeing a card that said: “Falling down is part of life but getting up is living.  It really responded to me, it resonated with me. I think that’s kind of the attitude that we’ve adopted you know, from that point forward. And you know, you have to fight, and we’re determined as a family to do so. To try and beat this.”

 

Kerry Sedmihradsky: “So, he worked out the route between Hamilton and Ottawa which is 600 km with Max riding in the front of the Cargo bike and it’s been a really, really positive experience for our family.”

 

Groundbreaking research with the Gunning Group

Yassir, Graduated student: “It’s very rare that we get to see what we do have an impact. So yeah, my motivation is, just all the young children that have Duchenne and if I can do anything, you know one percent that I can do to try to push this a little bit more, maybe five years later someone pushes it more and hopefully, we live in a world soon where Duchenne is something that is normal and we can cure it.”

 

Join the fight!

Duchenne muscular dystrophy (DMD) is a rare disease with no cure. Orphan drugs that target its causes are being developed now. We need your help. Research is the only hope. And research needs funding.

For the past 20 years, Canadian families in the DMD community have been raising funds for and awareness of DMD. Their actions and successes have funded current research. Now that new treatments are emerging, families need to unite and be heard to access new treatments quickly.

 

Bruce Babington, our own La Force athlete, will cycle across Canada in July 2018 to raise funds and awareness for DMD. Our part is to tell their story.

 

Sharing these stories is one step forward towards the cure.

  • We invite you to share this story with your community.
  • Encourage Bruce’s challenge: to cycle from Quebec to British Columbia in 24 days! Make a donation /Here
  • Donate to our organization, so we can continue to help get closer to treatment.  /Here

 

For more information:

About Max’s Big Ride:  Max’s Big Ride / Here

About the Gunning group: The Gunning Group  / Here