Sarepta Therapeutics Announces Partnership with Roche

Sarepta Therapeutics Announces Partnership with Roche in Territories Outside the United States for its Investigational Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy, SRP-9001

Press release here

Quick view

  • Roche obtains the exclusive right to launch and commercialize SRP-9001 outside the United States 
  • At closing, Sarepta will receive an upfront payment of $1.15 billion, comprising $750 million in cash and $400 million in Sarepta stock, priced at $158.59 per share of common stock 
  • Additionally, Sarepta is eligible to receive up to $1.7 billion in regulatory and sales milestones, plus royalties on net sales 
  • Sarepta will continue to be responsible for clinical development and manufacturing of SRP-9001 with global clinical development costs shared equally with Roche 

Sarepta Therapeutics, Inc. announced that Sarepta and Roche have entered into a licensing agreement providing Roche exclusive commercial rights to SRP-9001 (AAVrh74.MHCK7.micro-dystrophin), Sarepta’s investigational gene therapy for Duchenne muscular dystrophy (DMD), outside the United States. Under the agreement, Sarepta will receive $1.15 billion in an upfront payment and an equity investment; up to $1.7 billion in regulatory and sales milestones; and royalties on net sales, anticipated to be in the mid-teens. In addition, Roche and Sarepta will equally share global development expenses. Sarepta retains all rights to SRP-9001 in the United States.

The collaboration combines Sarepta’s leading gene therapy candidate for DMD with Roche’s global reach, commercial presence and regulatory expertise to accelerate access to SRP-9001 for patients outside the United States. DMD is an X-linked rare degenerative neuromuscular disorder causing severe progressive muscle loss and premature death. SRP-9001, currently in clinical development for DMD, is designed to deliver the micro-dystrophin-encoding gene directly to the muscle tissue for the targeted production of the micro-dystrophin protein.ç

 

Doug Ingram, president and chief executive officer, Sarepta – “As a mission-driven organization, we are inspired to partner with Roche with the goal of bringing SRP-9001 to patients outside the United States. This collaboration will not only increase the speed with which SRP-9001 could benefit DMD patients outside the United States but will also greatly expand the scope of territories within which we could potentially launch SRP-9001 and improve and save lives. In addition to the validation that comes from joining forces with Roche, this licensing agreement – one of the most significant ex-U.S. licensing transactions in biopharma – will provide Sarepta with the resources and focus to accelerate our gene therapy engine and, if successful, bring SRP-9001 to patients as quickly as possible, potentially transforming the lives of countless DMD patients across the globe.”

 

James Sabry, Head of Roche Pharma Partnering –  “We are excited to enter this licensing agreement with Sarepta. By working together to provide SRP-9001 to patients, we hope to fundamentally transform the lives of patients and families living with this devastating disorder for which there are currently only limited treatment options.”

As part of the agreement, Sarepta will continue to be responsible for the global development plan and manufacturing build-out for SRP-9001. Through its leading hybrid manufacturing platform, Sarepta will remain responsible for manufacturing of clinical and commercial supplies. Sarepta has also granted Roche an option to acquire ex-U.S. rights to certain future DMD-specific programs, in exchange for separate milestone and royalty considerations, and cost-sharing.

About Sarepta

Sarepta Therapeutics, Inc., a biopharmaceutical company, is working to unlock the potential of RNA-based and gene therapy technologies for the treatment of serious and life-threatening diseases like Duchenne muscular dystrophy (DMD). Sarepta’s primary focus is to rapidly advance new treatments for DMD.

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Source

Sarepta Therapeutics, Inc.

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FDA grants accelerated approval to Vyondys 53

Sarepta Therapeutics Announces FDA Approval of VYONDYS 53™ (golodirsen) Injection for the Treatment of Duchenne Muscular Dystrophy (DMD) in Patients Amenable to Skipping Exon 53

Source: Sarepta Therapeutics, Inc., Dec 12, 2019 – Read the original news here– 

The U.S. Food and Drug Administration granted accelerated approval to Vyondys 53 (golodirsen) injection to treat Duchenne muscular dystrophy (DMD) patients who have a confirmed mutation of the dystrophin gene that is amenable to exon 53 skipping. It is estimated that about 8% of patients with DMD have this mutation.

 

Billy Dunn, M.D., acting director of the Office of Neuroscience in the FDA’s Center for Drug Evaluation and Research – “The FDA recognizes the urgent need for new medical treatments for serious neurological disorders and we have a long-standing commitment to working with researchers, drug companies and patients to facilitate the development and approval of treatments for rare diseases. With today’s accelerated approval, patients with Duchenne muscular dystrophy who have a confirmed mutation of the dystrophin gene amenable to exon 53 skipping will now have available the first treatment targeted specifically for this disease subtype. Use of the accelerated approval pathway will make Vyondys 53 available to patients based on initial data and we look forward to learning more about the drug’s clinical benefit from the ongoing confirmatory clinical trial.”

 

Doug Ingram, president and chief executive officer, Sarepta – “Today is monumental for Sarepta and, more importantly, for the DMD community. VYONDYS 53, our second approved exon-skipping RNA therapy for DMD, may treat up to 8% of the DMD community, representing those patients who have a confirmed exon 53 amenable mutations.  Along with EXONDYS 51® (eteplirsen), we now offer treatment options for approximately 20% of those with DMD in the U.S.”

 

Pat Furlong, founding president and chief executive officer, Parent Project Muscular Dystrophy (PPMD link here) – “With the approval of VYONDYS 53, up to another 8% of Duchenne families will have a therapy to treat this devastating disease. For 25 years, PPMD has been working with researchers, clinicians, industry, and the Duchenne community to find treatments for all people living with Duchenne. And while we need to ensure that these approved therapies are accessible for patients, today we celebrate this approval and thank Sarepta for their continued leadership in the fight to end Duchenne.”

 

More about Vyondys 53 (golodirsen)

Like Exondys 51, golodirsen, which Sarepta hopes to sell under the name Vyondys 53, is designed to treat a group of Duchenne patients with a particular type of mutation. Exondys 51 works for about 13% of DMD patients—those whose disease is amenable to exon 51 skipping. If approved, golodirsen would offer treatment to patients with a mutation in exon 53—about 8% of the DMD population.

VYONDYS 53 is priced at parity to EXONDYS 51, the price of which has not increased since its launch in 2016. Patients and physicians can access more information at www.SareptAssist.com or by calling 1-888-727-3782.

Important Safety Information for VYONDYS 53

Approval of Vyondys 53

Vyondys 53 was approved under the accelerated approval pathway, which provides for the approval of drugs that treat serious or life-threatening diseases and generally offer a meaningful advantage over existing treatments. Approval under this pathway can be based on adequate and well-controlled studies showing the drug affects a surrogate endpoint that is reasonably likely to predict clinical benefit to patients. This pathway provides earlier patient access to promising new drugs while the company conducts clinical trials to verify the predicted clinical benefit.

The accelerated approval of Vyondys 53 is based on the surrogate endpoint of an increase in dystrophin production in the skeletal muscle observed in some patients treated with the drug. The FDA has concluded that the data submitted by the applicant demonstrated an increase in dystrophin production that is reasonably likely to predict clinical benefit in patients with DMD who have a confirmed mutation of the dystrophin gene amenable to exon 53 skipping. A clinical benefit of the drug, including improved motor function, has not been established. In making this decision, the FDA considered the potential risks associated with the drug, the life-threatening and debilitating nature of the disease and the lack of available therapy. Read more here.

The Status

  • VYONDYS 53 is approved under accelerated review based on an increase in dystrophin production in skeletal muscle of patients amenable to exon 53 skipping. Continued approval may be contingent upon verification of a clinical benefit in confirmatory trials.
  • VYONDYS 53 has met the full statutory standards for safety and effectiveness and as such is not considered investigational or experimental.
  • The commercial distribution of VYONDYS 53 in the U.S. will commence immediately
  • Information for patients and clinicians is available at www.SareptAssist.com

What is exon skipping?

Mutations in the dystrophin gene are one cause of DMD. Most commonly, one or more exons (a portion of a gene) are missing, and the remaining exons don’t fit together correctly. (Think of a zipper that doesn’t work properly, because teeth are missing.)

Because of this error, cells cannot make the dystrophin protein that muscles need to work properly. Without it, muscle cells become damaged and, over time, are replaced with scar tissue and fat.

To fix the broken genetic machinery, scientists are developing drugs that skip over parts that contain missing or defective exons. In this way, the machinery can produce a less imperfect dystrophin protein, which may improve muscle function in children with exon mutations. > Pipeline exon-skipping

What about Canada?

At this moment, Vyondys 53 is not available in Canada. We hope that shortly, Sarepta Therapeutics will file a request for marketing approval with Health Canada.

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DEFEAT DUCHENNE FAMILY FORUM – MONTREAL

We are excited to share that the next Defeat Duchenne Family Forum will take place in Montréal, Québec, on Saturday, May 2, 2020.

Presented by PTC Therapeutics and in partnership with Jesse’s Journey, this unique educational event provides the opportunity for you – families and caregivers navigating the Duchenne journey, to come together with researchers, clinicians, and industry professionals for a day of education and inspiration. More than that, the Defeat Duchenne Family Forum provides a support network. A connection opportunity for you to know that they are not alone and together, we can defeat Duchenne. Registration is free, and the day includes take-away resources and all meals (breakfast, lunch, and snacks). Event page here + Facebook event page here

  • What: Defeat Duchenne Family Forum
  • When: Saturday, May 2, 2020 | 9 a.m. – 4 p.m
  • Followed by: Social & Vendor Fair from 4 – 6 p.m
  • Where: Shriners Hospital for Children (1003 Décarie Blvd, Montréal, Québec H4A 0A9)

Stay tuned as we announce registration and full program details in early 2020.

 

The first-ever Duchenne Family Forum In London, Ontario

May 25, 2019, in London, Ontario

This unique event – tailored to families in Canada affected by Duchenne muscular dystrophy – featured updates about the latest research, clinical trials recruiting in Canada, and more. Read more here.

Defeat Duchenne Family Forum in Calgary, Alberta

November 2, 2019, in Calgary, Alberta

More than 75 Canadians came together for the inaugural Defeat Duchenne Family Forum presented by PTC Therapeutics on Saturday, November 2, 2019, in Calgary, Alberta. Families from across Western Canada affected by Duchenne muscular dystrophy came together with world-renowned researchers, clinicians, and industry professionals for a day of education, inspiration, and hope. Read more here.

More links

Learn more about Jesse’s Journey here.

Watch our video about John Davidson, the godfather of the Canadian Duchenne community here.

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The Power of Giving Back

GivingTuesday – the global day of giving

Join us for the 7th annual GivingTuesday on December 3, 2019!

GivingTuesday is a global day of giving that happens each year after Black Friday and Cyber Monday. It’s a time when Canadians, charities and businesses come together to celebrate giving and participate in activities that support charities and non-profits. There is no “right” way to participate as long as it supports generosity and giving. Donate, volunteer time, help a neighbour, or spread the word.

GivingTuesday was started in Canada by a group of organizations including GIV3CanadaHelps.org, and now includes over 6,500 partners. GivingTuesday was originally started in the US in 2012 by the NYC 92Y and several other community organizations.

Make a donation to La Force DMD here –  or visit our facebook event page here

 

What was achieved in 2018?

Last year, an estimated six million Canadians took part in GivingTuesday and found ways to ‘Do Good Stuff’. Today, as the holiday season is fast approaching,

Now in its sixth year, GivingTuesday kicks off the beginning of the charitable season with more than 6,500 partner organizations registered in Canada and over 40 community movements active in cities and towns across the country.

 

Countdown

 

GivingTuesday Countdown

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 raises funds for promising research and raises awareness to have a unified DMD community across Canada to access new treatment quickly.

 

How to contribute to our cause:

There is no small amount!

Our organization aims 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.

Make a donation to La Force DMD here –  or visit our facebook event page 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.

 

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A DMD gene therapy has been placed on clinical hold

Following the occurrence of a safety incident, the FDA has placed on hold the clinical trial for SGT-001, the Solid’s gene therapy candidate for Duchenne muscular dystrophy (DMD). This clinical hold is the second bad news the DMD community has received this month. Last week, Swiss pharma giant Roche announced it was terminating its study of an investigational anti-myostatin adnectin protein in ambulatory boys with DMD. Roche said an analysis of the ongoing data indicated that its treatment RG6206 was “highly unlikely” to demonstrate clinical benefit in the trial.

 

La Force is sharing this press release provided by Solid Biosciences, Nov. 12, 2019,> PRESS RELEASE <

 

Solid Biosciences Provides SGT-001 Program Update

Solid Biosciences Inc. provided a clinical update on SGT-001, a microdystrophin gene transfer therapy, and reported that the U.S. FDA had notified the company that IGNITE DMD, its Phase I/II study of SGT-001, has been placed on clinical hold. 

To date, six patients have been dosed with SGT-001, Solid’s gene transfer candidate under investigation for Duchenne muscular dystrophy (DMD). This includes three patients in the first cohort, who continue to do well and are being followed per the study protocol. Three patients were subsequently dosed in the second cohort. The first two of these patients are also doing well and being followed per study protocol.

The third patient in another cohort, dosed in late October, experienced a serious adverse event (SAE) deemed related to the study drug that was characterized by complement activation, thrombocytopenia, a decrease in red blood cell count, acute kidney injury, and cardio-pulmonary insufficiency. Neither cytokine- nor coagulopathy-related abnormalities were observed. Currently, the patient is closely followed by his care team. He is recovering and continues to improve.

The company reported the event to the FDA and the study Data Safety Monitoring Board (DSMB). The FDA has notified the company that the study has been placed on clinical hold. Solid will work with the FDA in an effort to resolve the hold and determine the next steps for IGNITE DMD. The company continues to plan to report additional biomarker data from the study before the year-end.

 

Ilan Ganot, Chief Executive Officer, President and Co-Founder of Solid Biosciences – “We are encouraged that this patient is recovering. I would like to thank both the patient and his family for their participation in our study, as well as the team at the University of Florida for the excellent care they provide. We remain committed to bringing meaningful new therapies to the Duchenne community and continue to believe in the differentiated construct of SGT-001 and the potential benefits it may offer to patients. In the coming weeks, we anticipate that we will have a better understanding of the biological activity and potential benefit of SGT-001. We look forward to sharing this additional data and working with the FDA to resolve the clinical hold and determining next steps for the program.”

 

Last year, the FDA placed a clinical hold on the trial following the report of a serious adverse event. Solid Biosciences Announces Clinical Hold On SGT-001 microdystrophin gene transfer Clinical Phase I/II Clinical Trial for Duchenne Muscular Dystrophy.  That hold was lifted in June 2018 after the company addressed the FDA’s concerns.

About SGT-001

Solid’s lead candidate, SGT-001, is a novel adeno-associated viral (AAV) vector-mediated gene transfer under investigation for its ability to address the underlying genetic cause of DMD, mutations in the dystrophin gene that result in the absence or near absence of dystrophin protein. 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, including neuronal nitric oxide synthase (nNOS). 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. SGT-001 has been granted Rare Pediatric Disease Designation, or RPDD, in the United States and Orphan Drug Designations in both the United States and European Union.

Learn more here

In case you don’t remember the specifics about the microdystrophin and gene therapy we invite you to watch the interview we conducted in London with Dr. Jeffrey Chamberlain PH.D.:  Here

About Solid Biosciences

Solid Biosciences is a life science company focused solely on finding meaningful therapies for Duchenne muscular dystrophy (DMD). Founded by those touched by the disease, Solid 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 is progressing programs across four scientific platforms: Corrective Therapies, Disease-Modifying Therapies, Disease Understanding and Assistive Devices. For more information, please visit www.solidbio.com.

 

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Teaming up to take down Duchenne

Research and collaboration are bringing Canadians closer to a cure than ever before. However, many parents fear that access to treatment may come too late for their child.

by Denise Deveau, Sep 6, 2019, > published on Maclean’s

 

 


For Nicola Worsfold and her husband Ed, the day they were told their six-year-old son Owen had Duchenne Muscular Dystrophy (DMD) is one they’ll never forget.

 

Nicola Worsfold – “It was like someone took a huge sledgehammer and knocked us off our feet. We found out that there was nothing we could do because, at the time, there was no cure or medication that could help.”

 

A progressive muscular disorder, DMD is caused by a genetic mutation that prevents the body from producing the structural protein needed to protect muscle cells. The Canadian Neuromuscular Disease Registry estimates that there are less than 800 cases in Canada, with almost all affecting boys.

As it stands today, DMD is fatal. A child with the disorder becomes weaker over time until they succumb to the disease in their early to mid-twenties. It can be inherited or, as with Owen’s diagnosis, the result of a random spontaneous mutation.

 

Read the full article here

Living with DMD, Carl’s resilience

Notes from the “Living with DMD” web-doc Tecima Productions team. Carl’s resilience.

Our small production team travelled across Canada, meeting with families whose children have Duchenne muscular dystrophy (DMD). We met with Dakota (age 6), Anakin (age 11) and Carl (age 35) at critical moments in their journey. Our goal was to produce a Web-doc in three acts, to raise awareness about DMD by living it through the eyes of the families suffering because of it. This degenerative muscle disease, for which there is no cure, usually leads to premature death in the patient’s early twenties … But, guess what? … this isn’t always the case, because Carl Marier has defied all odds and is now aged 35. When we met him we were overwhelmed by his joyfulness, his presence, and his sense of humour, even if he is the youngest person living in a residence for the elderly. Living with DMD: Carl’s resilience story.

 

Surviving 3 major operations

Today, Carl is connected to his respirator 24/7; the respirator sends the air directly to the lungs, a tracheotomy allows him to limit the colds that could turn into pneumonia and his gastrostomy helps him to eat. As he grew older, it was harder and harder for his family to care for him until it became impossible as he needed to cared for day and night. Because of a lack of adapted facilities, their only option was to send him into a residence for the elderly.

 

Alain Marier, from the documentary  Living with DMD– ” We had to place Carl, who is 34 years old, in a residence for seniors. I’ll tell you, almost three-quarters of the seniors there do not know where they are. They have Alzheimer’s or dementia. He’s the baby in the place because he’s the youngest.”

 

The power of a positive attitude

When we asked him what quality he developed because of DMD, Carl immediately answered “resilience”. He greeted us in his room with a great amount of energy and punctuated our visit with several jokes. He also told us he has many friends and he loves to socialize with them in the residence. We also witnessed a tender relationship between him and his step-mother, Sonia Gélineau.

 

Sonia Gélineau – from the documentary Living with DMD– “Carl came into my life when he was nine-and-a-half years old. Later, in 2001, his father and I were married. Living with the disease is not always easy”.

 

Faced with a great deal of suffering and inevitable destiny, what we witnessed from our encounter with Carl was how the strength of character, a solid positive attitude, and unfailing love link together in the face of adversity that is difficult to imagine.

 

Enjoy the web-doc. Thank you for sharing.

Dakota’s big smile – A race against time to access new treatments

The documentary “Living with DMD” is produced by www.tecima.com

 

A Race Against Time to Access New Treatments

Duchenne muscular dystrophy seen through the eyes of the families

There are over 7,000 rare diseases in Canada. Duchenne muscular dystrophy (DMD) is one of them. DMD afflicts children, especially young boys, and sometimes girls. This degenerative muscle disease causes loss of the ability to walk, heart and respiratory failure, and usually leads to premature death in the early twenties. Tecima Productions produced the “Living with DMD” documentary to tell the story of people living with DMD and their families at crucial moments in their journey: those of Dakota, age 6, Anakin, age 11, and Carl, age 35.

Anakin’s Loss of Autonomy

For other children, being 10 years old is a period for developing and gaining independence. For 10-year-old (in 2018) Anakin who has DMD, it’s a different experience, as he is progressively losing autonomy and is forced to seek help from his parents to get out of bed, in and out of the car, etc. It’s also during this exact stage that he becomes fully conscious of his destiny.

 

Bruce Babington, an excerpt from the documentary Living with DMD “The last year has been tough for him. The disease has progressed quite significantly, and he’s losing the ability to use his legs. He cannot walk great distances, and he’s struggling to maintain the strength he has in his legs. You can see that it’s beginning to affect him both physically and mentally.”

 

A Race Against Time to Access New Treatments

Rare diseases such as DMD are fraught with all sorts of obstacles for families. There is very little funding for research, it is difficult to access new treatments, and long-term care for young adults is costly and often not available to families.

 

Marie-Catherine Du Berger excerpt from the documentary Living with DMD “It’s a bit of a race against time because the faster you get the treatment, the better it is. But there are many obstacles in the drug approval process here, with repayments, financing, etc. By the way, it is done for us.”

 

Read the story about Bruce Babington, who cycled across Canada in July 2018 to raise funds and awareness for DMD.

 

Help Us Raise Awareness!

After reading this article or watching our documentary, you can certainly feel the urgency of sharing the story of these three families. We want to educate the public about the realities of people living with DMD, on behalf of those who have suffered, those who suffer now, and for future generations. Our aim for this project is to get better funding for research, to make new treatments more easily accessible, and so that long-term care becomes better available to young adults. We are doing this so that they have a chance for a better life.

How can you help us? Watch our documentary, continue reading our article, and share them with your communities. Every action counts.

Enjoy viewing our documentary and thank you for sharing it in your community

 

The “Living with DMD” documentary was produced by www.tecima.com

Correcting nonsense mutations with CRISPR/cas9?

Correcting nonsense mutations with CRISPR / Cas9?

Would it be possible to correct nonsense mutations with CRISPR/Cas9? Some patients with DMD have a point mutation (nonsense) that leads either to the absence or to the abnormal function of dystrophin. The objective of Professor Jacques P. Tremblay’s team is to develop therapies for DMD due to such mutations.

In the last three years, new variations of the CRISPR/Cas9 technology, called base editing, permit to change a single nucleotide pair into another one. Professor Jacques P. Tremblay’s team will use this technology to correct the point mutation present in the MDX mouse model and 28 mutations detected in Canadian DMD patients according to the Canadian Neuromuscular Disease Registry database. Their knowledge and acquired experience will then subsequently be used to treat point mutations responsible for other hereditary neuromuscular diseases.

 

Professor Jacques P. Tremblay will be on Découverte on November 3 at 6:30 pm on Radio Canada. Découverte|Radio-Canada 

 

The human DNA

The human DNA present in each of our cells contains all the genetic information that we have inherited from our parents (e.g., eye colour, hair colour), including mutations responsible for hereditary diseases. 

This DNA is formed by only four chemical molecules called nucleotides:

  • A: adenosine
  • T: thymidine
  • C: cytosine
  • G: guanine

The DNA is a double helix formed by nucleotide pairs. Half of our genome originates from our mother and the other half from our father. We have received 3.2 billion nucleotide pairs from each parent. Genes coding for proteins that make our cells are sequences of these nucleotide pairs.

 

What is CRISPR/Cas9 technology?

CRISPR/cas9 technology 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. Learn more here > Genetic engineering offers real hope of advancement.

 

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.

To learn more about the work of Professor Jacques P. Tremblay: Centre de recherche du CHU de Québec

 

Interview with Jacques Tremblay

We wish to connect you, the DMD community, with the professors. We hope this video will be a good medium for understanding how CRISPR/Cas9 technology work, as related to DMD.

DAKOTA’S BIG SMILE

Notes from the “Living with DMD” web-doc Tecima Productions team.

Our small production team travelled across Canada, meeting with families whose children have Duchenne muscular dystrophy (DMD). We met with Dakota (age 6), Anakin (age 11) and Carl (age 35) at critical moments in their journey. Our goal was to produce a web-doc in three acts, to raise awareness about DMD by living it through the eyes of the families suffering because of it. This degenerative muscle disease, for which there is no cure, usually leads to premature death in the patient’s early twenties. When we met the Albert family, we discovered a happy family, despite the suffering. But mom Kristen’s smiles and laughter—that resonate throughout the household hide a great sadness: knowing that the family’s middle son Dakota is afflicted with DMD.

A Painful Projection of the Future

Today, this ebullient early-thirties couple are the proud parents of (get this) a family of 5 children. When the diagnosis fell, Dakota was just three years old. Projecting such a tragic fate for a 3-year old (at the time) is beyond a broken heart. It’s also a scenario that follows you in all of your life’s activities.

 

— Kristen Albert—Excerpt from the documentary Living with DMD. “You know, you have this outlook on your family, thinking, you’ll have happy, healthy kids, and then, all of a sudden, we find out that our middle boy is going to die before he should. It’s hard to deal with that every day.”

 

A DMD Diagnosis… and autism

Unfortunately, in addition to DMD, Dakota has also been diagnosed with autism. This reality has brought the family to face another dilemma: whether or not to administer corticosteroids that can increase the symptoms of autism.

 

—Aaron Albert—Excerpt from the documentary Living with DMD. “I would like to stay away from steroids for as long as possible. Because my son has autism as well, he’s already having some developmental issues, behaviour-wise. He has to deal with anger and shows aggressive behaviour; steroids can make that worse. They can cause obesity, osteoporosis and behaviour issues. We’ve decided that we can’t really make that worse right now; he needs help with his autism first.”

 

Despite all this sadness and the dilemmas he faces, Dakota has one of the most beautiful smiles we’ve ever seen. Mom Kristen’s laughter lights up their home because, despite the suffering, they are happy people.

How can you help us? Watch our documentary, continue reading our article, and share them with your communities. Every action counts.

 

Enjoy watching and thank you for sharing in your community.

 

The documentary “Living with DMD” is produced by www.tecima.com

 

* It should be noted that the Albert family’s story is a specific case, each DMD and autism diagnosis has its own unique characteristics and details. Taking corticosteroids or not in this situation is the personal decision of each parent. The Albert family has also had access to a corticosteroid-like treatment since the documentary was shot.

More about corticosteroïdes here.