Toronto, Ontario – A new partnership between Muscular Dystrophy Canada (MDC) and the Canadian Institutes of Health Research (CIHR) announces the creation of a new neuromuscular network in Canada.
Led by Dr. Hanns Lochmüller, NMD4C is an integrated research network for patients, scientists, and clinicians to improve outcomes and access to therapies for patients with neuromuscular disorders in Canada.
“We’re absolutely delighted to receive this catalyst funding for our NMD4C network. Because neuromuscular diseases are individually rare, but collectively affect many children and adults across Canada. Working together, pooling expertise and developing shared infrastructure at a national level is essential if we want to make rapid progress towards giving all Canadian patients world-class care and develop new treatments. This is a fantastic opportunity for doctors, researchers and the patient community to come together to do just that, and we can’t wait to get started,” stated Dr. Lochmüller.
Thanks to you, our committed, generous donors, 2019 was an incredible year. Because of you, Muscular Dystrophy Canada supported clients through 13,458 calls and interactions, funded $1.1 million in research, and supplied 1,192 pieces of vital equipment for clients.
But we still have so much more to do to break down barriers for Canadians impacted by neuromuscular disorders—and we can’t do it without your continued support.
Canadians are still facing barriers when it comes to being diagnosed early and properly, accessing treatments and at an affordable price, and knowing how to use our healthcare system to get the help they need.
Just a few weeks ago, I had the pleasure of meeting a Muscular Dystrophy Canada (MDC) client, Stefanie Marinich-Lee, who amazed me with her tenacity and openness to talking about the struggles Canadians living with a neuromuscular disorder are facing every day.
Stefanie was diagnosed with Type 3 spinal muscular atrophy (SMA) when she was 17 months old. As a child, she remembers struggling to walk. How after each fall it was even harder to get back up. Despite the obstacles she faced, she never gave up. Stefanie told me, “My parents always said I could do anything—that my disability did not define me.”
So, at 19 years old, Stefanie left home to study at the University of Waterloo and chased her dreams of becoming a lawyer. As her career took off, and her disorder progressed, she started losing abilities. Simple everyday tasks, that most of us take for granted, became more and more difficult for her. Some were impossible. It shattered her to pieces when she had to step away from her dream career. She felt isolated and battled depression.
I always dreamed of having a big family. What I never imagined was the heartbreak and stress that comes from having children with serious health disorders.
I have six children, all boys, and three have Duchenne Muscular Dystrophy.
Thankfully, we found Muscular Dystrophy Canada. Because of donors, like you, MDC is able to provide support to Canadian families, like mine, who are living with the challenging realities of a neuromuscular disorder.
Of course, each and every family impacted is different, but we all could use a little holiday magic this year. Will you help make someone’s wish come true by giving a special gift this holiday season to help families in need?
Toronto, November 15, 2019 – Research experts, the medical community, and industry stakeholders came together in Toronto this week at the inaugural Muscular Dystrophy Canada (MDC) SMA Research Summit to discuss new research and development.
“This summit was an important opportunity for us to review the latest developments and discuss where there are opportunities to enhance our role in the neuromuscular community in order to provide the proper support for individuals and families impacted by SMA,” said Barbara Stead-Coyle, CEO, Muscular Dystrophy Canada. “We thank our generous sponsors Biogen, Novartis, and Roche for providing us with the opportunity to have these important conversations, as well as our organizing committee—co-chairs Dr. Rashmi Kothary and Dr. Maryam Oskoui, as well as Dr. Craig Campbell and Dr. Lawrence Korngut.”
Key topics under discussion included new research, clinical trial developments, and the changing treatment and regulatory landscape in Canada.
“As part of MDC’s ongoing commitment to influence positive change, we convened leading medical and scientific experts to share and collaborate in ways that will foster medical advances and impact the lives of the individuals and families that we serve. We are excited to continue the momentum and are planning MDC’s first nationwide Neuromuscular Impact Conference, which will be held next year so our clients have an opportunity to hear and speak to the scientific and medical community,” said Daria Wojtal, Director of Research, Muscular Dystrophy Canada.
Spinal muscular atrophy is a severe, inherited, progressive neuromuscular disease that causes major problems with walking, muscle strength, fine motor skills, and the basic physical functions of breathing, swallowing, and feeding. Until recently, there were limited treatment options for SMA, but prognosis has been transformed with the recent availability of a number of effective disease-modifying therapies, notably nusinersen, known as Spinraza. Great advances have been made and there is a pipeline of clinical trials that are transforming what it means to be diagnosed with this rare neuromuscular disease.
ABOUT MUSCULAR DYSTROPHY CANADA
Muscular Dystrophy Canada’s mission is to enhance the lives of those impacted with neuromuscular disorders by continually working to provide ongoing support and resources while relentlessly searching for a cure through well-funded research. To learn more about Muscular Dystrophy Canada, please visit muscle.ca or call our toll-free number at 1-800-567-2873.
CRISPR-Cas9 technology, a gene editing tool, has been significantly upgraded with a new feature called prime editing. This enhancement addresses two limitations of CRISPR technology by: (1) allowing the change of a gene’s spelling into a predicted sequence without requiring a cell to divide and (2) without needing to cut both strands of the DNA double helix, which reduces the risk of making unintentional changes. The study published in Nature used prime editing on human cells to correct the genetic spelling mistakes associated with Tay-Sacks and Sickle-Cell Anemia. Compared to traditional CRISPR technology, this study showed that the prime editing feature made CRISPR more precise, efficient and highly versatile.
CRISPR-Prime editing holds promise for the treatment of neuromuscular disorders (NMDs) as it allows genetic repairs in non-dividing cells like neurons and muscle cells and could potentially be used on a subset of NMDs caused by small genetic spelling mistakes like point mutations, small insertions or deletions. But in its current form, up to 80 letter changes were edited and so this upgrade would not work for other types of NMDs: Charcot-Marie-Tooth 1A and Myotonic muscular dystrophies as well as some cases of Duchenne, and Becker Muscular Dystrophies are caused by large thousand or even hundred thousand letter deletions, duplications, inversions and repeat expansions. As this technique moves us one step closer to correcting genetic mutations that cause human genetic diseases, there is a need to continue research to develop safe and effective treatment for the wide range of specific disease-causing spelling mistakes associated with NMDs
Eight years ago, I sat in a doctor’s office staring down at a brochure from Muscular Dystrophy Canada mindlessly reading the same line over and over again.
I was in shock. A doctor had just told me my 4-year-old son, Eloi, had Duchenne Muscular Dystrophy. When news like that comes, it’s like the world stops and the sky is falling on you.
All I could think about was that my son was going to stop walking and I would live to bury him and there was little I could do to intervene.
I didn’t know in that moment I would have supporters like you on my side, to help my family through this.
But then we reached out to Muscular Dystrophy Canada (MDC) and learned about the incredible support they are able to provide thanks to donors. In fact, we were so moved that we decided to take action by helping them raise much-needed funds for equipment, research and support for other famliles impacted.
September is Muscular Dystrophy Awareness Month so I hope that you, too, will take action by making a gift today to help support the more than 50,000 Canadians impacted by neuromuscular disorders.
Because donors like you are having an incredible impact on the lives of individuals and families, like mine, who are living with a muscular dystrophy diagnosis.
For example, thanks to donors, we were able to adapt our home so Eloi can safely and freely get around. He has a scooter. He’s gone to summer camp. And, MDC was even able to visit his elementary school with their Muscle Facts program to help his classmates and teachers better understand his diagnosis and challenges. None of this would have been possible, without your support.
Sadly our story is not unique. Every year, more families have to figure out what a diagnosis of muscular dystrophy means for their son, daughter, brother, mother. You may even be one of those people, and you remember that moment as vividly as I do.
Mostly, I remember feeling helpless. The fear of the unknown can be so overwhelming. But joining the Muscular Dystrophy Canada family has been one of the most transformative experiences of my life. Not only has my family been gifted with new friendships and an invaluable support network – I’ve been able to help other families.
Donors, like you and me, can improve the lives of the thousands of Canadians living with a muscular dystrophy. That’s why I hope you will mark Muscular Dystrophy Awareness Month with a generous gift.
I’ve seen first-hand how gifts from donors play a critical role in supporting individuals. And because of my job, managing clinical trials for a pharmaceutical company, I’ve seen how your gifts are moving promising research forward as well. Research can make the difference between an individual, like my son, walking or spending the rest of their lives in a wheelchair.
Right now, Eloi only needs a wheelchair for long distances. But we know the day may come when he will have to rely on it completely. And, he’ll require other supports to maintain his quality of life. This disorder is progressive. It can be slowed, but not stopped. That’s why ongoing donor support is critical.
By making a gift today, you will be providing hope to all Canadians, whether they have been living with a disorder or they are just getting a diagnosis. Please give generously.
From my family to yours,
Alfred Breton-Pare, Eloi’s Proud Papa
P.S. September is Muscular Dystrophy Awareness Month. Please make a gift to MDC so together we can fund life-changing equipment, and invest in life-saving research.
Alberta fourth province to expand access to SPINRAZA™ for patients impacted with Spinal Muscular Atrophy.
Muscular Dystrophy Canada (MDC) commends the Government of Alberta for joining Quebec, Saskatchewan, and Ontario in expanding access to SPINRAZA™, a life-changing treatment for individuals impacted with Spinal Muscular Atrophy (SMA).
In Alberta, the following patients will now be eligible for reimbursement of SPINRAZA™, in addition to Type 1 patients:
patients who are pre-symptomatic with two or three copies of SMN2, or
have had disease duration of less than six months, two copies of SMN2, and symptom onset the first week after birth and on or before seven months of age, or
are under the age of 18 with symptom onset after six months of age, regardless of the ability to walk.
Other patients who do not meet the expanded funding criteria may be considered in exceptional cases.
Muscular Dystrophy Canada does not use telemarketing services.
Several years ago, the Canadian Fire Fighter Curling Association (CFFCA) retained a telemarketing company to assist in fundraising for their annual curling event. A portion of the funds raised in past years were donated to MDC.
Muscular Dystrophy Canada can confirm a campaign soliciting donations for the Canadian Fire Fighter Curling Association has begun, seeking donations that support the Canadian Fire Fighter Curling Association.
We have received complaints regarding the tone and approach of solicitation calls. We have brought these to the attention of the President of CFFCA.
Should you have any concerns or questions please contact the Canadian Fire Fighter Curling Association directly at cffca.ca. We sincerely thank all of our generous supporters for making our work possible.