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News about Golodirsen, Skipping Exon 53

Sarepta Therapeutics completes submission of New Drug Application seeking approval of golodirsen in patients with DMD amenable to skipping exon 53

Press Release here

Golodirsen has been studied for the treatment of exon 53 amenable patients, approximately eight percent of patients with DMD. Submission represents ongoing advancement of the company’s proprietary PMO RNA-based platform.

Sarepta Therapeutics, Inc. announced today that it had completed the submission of its New Drug Application (NDA) seeking accelerated approval for golodirsen (SRP-4053), a phosphorodiamidate morpholino oligomer engineered to treat those patients with Duchenne muscular dystrophy who have genetic mutations subject to skipping exon 53 of the Duchenne gene.

If the golodirsen NDA is filed and granted accelerated approval, the company’s ESSENCE study (4045-301) could serve as a post-marketing confirmatory study. ESSENCE, which is underway, is a global, randomized double-blind, placebo-controlled study assessing the safety and efficacy of golodirsen and casimersen, their exon 45 skipping therapy.

“We are grateful for the patients and clinicians who have participated in the study with an aim to advance treatment for all patients with Duchenne,”
“Sarepta is committed to developing therapies to benefit the greatest possible percentage of patients affected by Duchenne. Our proprietary PMO technology remains central to our commitment to patients with Duchenne. Combined, EXONDYS 51® (eteplirsen), golodirsen, and casimersen have the potential to treat nearly 30 percent of patients with Duchenne.” Said DOUGLAS S. INGRAM, President & CEO

About Golodirsen

Golodirsen exon-skipping technology to skip exon 53 of the DMD gene. Exon skipping is intended to allow for the production of an internally truncated but functional dystrophin protein.

Golodirsen uses Sarepta’s proprietary phosphorodiamidate morpholino oligomer (PMO)* chemistry and exon-skipping technology to skip exon 53 of the DMD gene. Golodirsen is designed to bind to exon 53 of dystrophin pre-mRNA, resulting in exclusion, or “skipping,” of this exon during mRNA processing in patients with genetic mutations that are amenable to exon 53 skipping. Exon skipping is intended to allow for the production of an internally truncated but functional dystrophin protein.

Golodirsen is one of the investigational candidates currently being evaluated in the ESSENCE study, a global, randomized, double-blind, placebo-controlled study evaluating efficacy and safety in patients amenable to skipping exons 45 or 53.

*a phosphorodiamidate Morpholino oligomer (PMO), is a type of oligomer molecule (colloquially, an oligo) used in molecular biology to modify gene expression. 

More about dystrophin

Dystrophin is a protein found in muscle cells that, while present in extremely small amounts (about 0.002 percent of total muscle protein), is crucial in strengthening and protecting muscle fibers. A devastating and incurable muscle-wasting disease, DMD is associated with specific errors in the gene that codes for dystrophin, a protein that plays a key structural role in muscle fiber function.

FEELING BAD ABOUT THE HOLIDAYS SHOPPING FRENZY?

Giving Tuesday is your opportunity to give back. This is a day dedicated to generosity just as Black Friday and Cyber Monday are dedicated to shopping. Contributing to our cause will help someone afflicted Duchenne muscular dystrophy (DMD). It’s the moment in Canada and the whole world to celebrate giving back and supporting causes that matter to you. We are part of the 3,200, charities and organization celebrating this day in Canada.

 

Help someone afflicted Duchenne muscular dystrophy (DMD)

What is Duchenne? It’s a degenerative muscle disease, afflicting mostly young boys 1-3500. It’s a fatal disease with no cure, taking muscles strength away and leaving young adults in a wheelchair and premature death in their late twenties. Many treatments are on the horizon, but we need your help to raise awareness and funds because there is no time to lose for people afflicted with DMD. Our organization raise funds for promising research and raise awareness to have a unified DMD community across Canada to access new treatment quickly.

 

Give to La Force here

 

About GivingTuesday

GivingTuesday was launched in Canada in 2013 by GIV3 and CanadaHelps.org and lists 15 founding partners. It’s a day for the entire charitable sector and encourages all Canadians to join the movement and give and volunteer for charities of their choice. GivingTuesday was initially founded in 2012 in the US by 92Y and the UN Foundation.

 

How to contribute to our cause:

There is no small amount!

Our organization aim to unite the DMD community to raise awareness around a common objective: that of providing access to new treatments as fast as possible and to participate in the funding of promising research projects. We also raise funds for two promising research based in Canada.

 

Every dollar is taking us closer to find better treatments and the cure.

Give to La Force here

 

Other ways to support us:

  • Organize a fundraiser or a sporting event
  • Buy our promotional items to make gifts
  • Share our stories, video and article
  • Display our colours during your outings and events.

POLARIS DMD, a phase 3 trial on edasalonexent

One of the objectives of our team is to inform you about new treatments. Here’s the latest news about Polaris DMD, the clinical trial of edasalonexent, developed by Catabasis. Thank you for sharing these articles in the DMD community.

 

Maria Mancini, vice president of clinical operations at Catabasis: We named the trial ‘Polaris’ because it is the brightest star in its constellation and it’s also known as the North Star.

 

What is Polaris DMD?

Polaris DMD is a phase 3 trial of edasalonexent, a potential treatment for Duchenne muscular dystrophy (DMD), regardless of mutation type, is enrolling boys ages 4 to 7 in the U.S. Registration information is available here > Clinicaltrials.gov.

The Polaris DMD Trial is a one-year, randomized, placebo-controlled trial. Catabasis began evaluating patients on October 2 at several sites in the United States. Catabasis plans to conduct the trial at nearly 40 sites around the world. The results are expected in June 2020.

 

Joanne Donovan, M.D., Ph.D., Chief Medical Officer of Catabasis: We are very excited to advance edasalonexent through this potentially last phase of clinical development with the hope of providing a new treatment option to all boys affected by this disease. We believe that edasalonexent has great potential as a therapy to be taken on its own as well as in combination with other treatments.

 

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.

 

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.

 

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 Catabasis: www.catabasis.com

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

Muscular Dystrophy News: www.musculardystrophynews.com

More information about the Polaris DMD trial: Catabasis – Polaris DMD

Business Wire: www.businesswire.com

 

Tarantula venom for dmd

Here’s the latest news from the University of Buffalo (UB) about an experimental therapy called GsMTx4. Based on a molecule found in tarantula venom, this “protein” can prevent muscle mass loss and muscle damage in an animal model of Duchenne Muscular Dystrophy (DMD). Enjoy your reading and thank you for sharing these articles in the DMD community.

This research from UB, published last July in the magazine “Neuromuscular Disorders,” shows that this new drug significantly reduces the loss of muscle mass.

 

What Is GsMTx4?

GsMTx4 is a small protein, a peptide*, present in the venom of the tarantula. This protein works by preventing some ion channel activity in muscles without affecting the communication between nerve cells and muscle cells.

Frederick Sachs: “GsMTx4 represents an out-of-the-box treatment to slow the progression of DMD.”

 Thomas Suchyna noted in a previous study that in addition to protecting muscles, GsMTx4 protected against cardiomyopathy, a common cause of death in patients with DMD.

 Frederick Sachs: “Remarkably, we did not observe any side effects in mice in this study. The drug also has a long life so that subcutaneous injection may be needed only once a week.

The researchers concluded that GsMTx4 could also be complementary to other therapies, such as the anti-inflammatory agents and gene replacement strategies prescribed or studied in DMD.

GsMTx4 has already been licensed to Tonus Therapeutics and Akashi Therapeutics as a sublicence for further development.

 

Status:

By the spring of 2019, a new investigatory new drug application will be filed with the United States Food and Drug Administration (FDA). If successful, by 2020, Phase I/II studies in humans will be followed.

Manufactured by chemical synthesis, GsMTx4 is considered an ‘orphan drug,’ a designation that the FDA grants to promising therapies for rare diseases.

 

About DMD

Duchenne muscular dystrophy (DMD) is a disease that affects boys almost exclusively 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. 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.

 

More Links

University of Buffalo:: Promising new therapy spares muscle loss in Duchenne muscular dystrophy

These results were published in the study entitled, “GsMTx4-D provides protection to the D2.mdx mouse,” in Neuromuscular Disorders.

Neuromuscular Disorders

*peptide

 

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Support us by registering here.

 

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Patient registry demonstrating Translarna™ slows DMD progression

Here’s the latest news from PTC Therapeutics about Translarna™ (ataluren). In a recent press release, PTC announces that Translarna™ (ataluren) slows disease progression in children with Duchenne muscular dystrophy (DMD) caused by a nonsense mutation. Enjoy reading and thank you for sharing these articles within the DMD community.

 

Analysis of data to date shows Translarna Preserved Ambulation for up to 5 Years Compared to Natural History

The data show that children and adolescents receiving Translarna in the real-world setting are continuing to walk years longer than untreated children and are staying more physically able. A time-to-event analysis for loss of ambulation has shown that patients on Translarna had a median age of loss of ambulation of 16.5 years of age – up to 5 years later than seen with natural disease progression in untreated children. The data were presented as a late breaker at the 23rd International Annual Congress of the World Muscle Society in Argentina.

 

Stuart W. Peltz, Ph.D., CEO, PTC Therapeutics: “The results from the Registry data are critical because they further substantiate the results observed in our analyses of data from previous clinical trials studying Translarna in Duchenne. Delaying the loss of ambulation is critical to these patients, as it predicts the time to loss of pulmonary function and mortality.”

 

Dr. Eugenio Mercuri, Professor, Pediatric Neurology, Catholic University: “These initial data are very encouraging because they provide the first, real-world evidence for the impact of Translarna when used routinely, longer term. We are seeing children who have been exhibiting first clinical symptoms of Duchenne at approximately three years of age and yet are still able to walk years after they would normally be wheelchair-bound, which is what matters most to patients and their families.”

 

Filippo Buccella, an author of the study and Duchenne patient advocate: “Keeping a child with Duchenne walking for as long as possible is crucial not only to maintain independence, but to delay the rapid deterioration that usually follows loss of ambulation, including loss of the use of arms, which are essential for self-care, and respiratory and cardiac complications. As a father to a son with Duchenne, slowing the progression of this devastating disease is vital to maintaining the quality of life for the patient as well as the family.”

 

About Translarna ™ (ataluren)

Discovered and developed by PTC Therapeutics, Inc., Translarna ™ (ataluren) is a protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation. A nonsense mutation is an alteration in the genetic code that prematurely halts the synthesis of an essential protein. The resulting disorder is determined by which protein cannot be expressed in its entirety and is no longer functional, such as dystrophin in Duchenne muscular dystrophy. Read more here.

 

Ataluren in Canada

At this moment, PTC Therapeutics has not applied for marketing approval with Health Canada, but it has started a conversation with the legislator.

 

What is a nonsense mutation?

DMD is a devastating disease that is caused by mutations in the dystrophin gene. The mutations vary in nature and account for the deletion, faulty replication, or duplication of parts of the genetic blueprint or code for protein manufacture. In other words, mutations in the dystrophin gene disrupt how protein factories in cells read its genetic code while making the dystrophin protein. The result is the absence of functional dystrophin protein in skeletal and cardiac muscles.

A change in a single base (point) of DNA can prematurely end the translation of a gene into a protein. About 10 % to 15 % of single-point mutations are nonsense mutations. They occur during the reading of messenger RNA (mRNA), which copies the genetic code during the manufacturing process, into protein.

 

About DMD

Duchenne muscular dystrophy (DMD) is a disease that 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.

 

More Links

PR NewsWire News Releases

Learn more about ataluren (Translarna™) at www.ptcbio.com

La Force VLOG Pioneers in DMD therapy

For specific updates about ataluren, you can consult and sign in on Duchenne and you

 

2018/10/09

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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

 

Connect to our Canadian Research Series

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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 of 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 that 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: 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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Bruce at the finish line interviewed by Radio-Canada

Monday, August 6th, Bruce has finished his long journey crossing Canada at Stanley Park in Vancouver. La Force team, Anakin’s family and other families affected by DMD were eagerly waiting for Bruce. They were all there to welcome him and sincerely say thank you. He pedalled over 4457 km in 31 days. He faced the heat, the mountains, wild animals and winds to raise awareness about DMD to Canadiens and raise money.

 

To raise awareness about the drug approval process

Cycling across Canada is symbolic. The drug approval process affects all of Canada. Patients affected by DMD and other rare diseases are facing the same problem from one coast to the other. Canada does not have a framework for drug approval for rare diseases.

 

Interview on Radio-Canada

When Bruce arrived, he and, Marie-Catherine Du Berger, La Force’s president and Anakin’s mother, were interviewed by Marc-Éric Bouchard for the show “Les retours de l’Ouest” at Radio-Canada.

 

Here you can watch the interview:

 

Here are a few passages of the interview with Bruce Babington and Marie-Catherine Du Berger:

 

Marc-Éric Bouchard (radio host): Tell us about the beginning of the adventure, how did you decide to undertake this challenge, this bike crossing?

Bruce Babington: In my life, I wanted to do this journey. When I started to treat Anakin, my patient, I came up with the idea of the challenge to raise funds, donations, I’m sorry, and also to raise awareness about the disease in Canada. And also, for La Force Foundation. So, at a dinner, I told my friends about going across Canada between Mont-Tremblant and Vancouver. This idea is a bit unreal, it’s quite an experience!

Marc-Éric Bouchard (radio host): What have you learned about yourself during this journey? Did you learn things you didn’t know about yourself as a therapist?

Bruce Babington: I always think about my patients, the best method to treat patients, especially like Anakin. It’s hard to tell because when you’re pedalling, the only thing you think much of is to reach the next town. It’s surprising because I thought I would have more time to think about other things, but curiously, when the days are quite long, it’s very hard, it’s very hot, the wind is strong also…I didn’t think a lot. It’s really about: look at your pedals, look at your wheels. I didn’t have a lot of time to think about other things.

Marc-Éric Bouchard (radio host): Is there a meaning with his name Anakin and Star Wars? The meaning with La Force, what is it?

Marie-Catherine Du Berger: Anakin is our inspiration for the Foundation. When you learn about this disease diagnosis, you realize that there is nothing much you can do, and that hope lies in the future treatments to come. It’s a bit like the work we do with La Force Foundation: engage everyone for the moment treatments will come to Canada…Because we’re a bit late, in Canada, regarding this disease. There is no effective treatment yet, but there are more treatments to come. There is one that has been approved in the United States, one that has been approved in Europe and that is different. For us, the purpose of La Force is to raise awareness and try to get ready to encourage faster approvals. This is not only the case for DMD, every rare disease also has almost the same treatment for drug approvals. Here in Canada, we have huge gaps. It really matters to us.

Many thanks go to Marc Fournier and Marc-Éric Bouchard for giving us exposure throughout Canada. Note that August 6th is a holiday in British Columbia. So, it’s been a great opportunity for our event. We also say a big thank you from the bottom of our hearts to Bruce for endorsing our cause in taking up the personal challenge he wanted to achieve for a long time. Beyond the funds raised for researches, this bike crossing gives hope for Canadian families living their everyday life with DMD.

 

You still can support Bruce for his bike crossing by making a donation.