Healthcare – Muscular Dystrophy Canada

100 percent of Canada is now screening infants for spinal muscular atrophy, a potentially fatal disorder

Muscular Dystrophy Canada and partners deliver on goal outlined in Canada’s Rare Disease Strategy

Toronto, Ontario, Canada, August 20, 2024 – Muscular Dystrophy Canada is thrilled to announce that after three years of working with each Canadian province and territory, all babies born in Canada can now be tested for spinal muscular atrophy (SMA). This milestone means infants diagnosed with SMA, the most fatal genetic disorder in children under two years of age, can receive life-changing treatment before symptoms even develop. It also marks the first neuromuscular condition to be added to screening panels across the country.

“Early diagnosis and effective treatment are critical to achieving the best possible outcomes for babies born with this neuromuscular condition,” said Dr. Pranesh Chakraborty Chief of the Department of Pediatrics at Children’s Hospital of Eastern Ontario and Chair of the Department of Pediatrics at uOttawa’s Faculty of Medicine. “Historically, most infants and children with SMA would have been diagnosed only after they have developed weakness and respiratory difficulty, at a time when most of their motor neurons have been irretrievably lost. Now, instead of facing life-limiting disability and, in the most severe cases, a life expectancy of less than two years, babies affected by SMA every year in Canada shall be diagnosed within the first weeks of life allowing them to rapidly receive therapy and improved outcomes.”

In 2020, only Ontario and the Baffin region in Nunavut screened for SMA at birth. Today, regardless of where in Canada a child is born, they will receive the same screening; and, if SMA is diagnosed, the same healthcare, treatment and opportunity to thrive.

“I could not imagine what our life would look like if my daughter were not given genetic, SMA-testing at birth,” said Taylor Diakew, mother of a 2-year-old with SMA. “Today, thanks to her early diagnosis, and quick access to treatment, she is a happy, healthy little girl who does not exhibit any signs of SMA – she is walking, running, climbing, and talking like any child her age. Thanks to SMA newborn screening, she can live the best life possible.”

The addition of SMA to newborn screening panels in all provinces and territories breaks down barriers and inequities families face simply because of where they live. It also acknowledges that screening for rare genetic diseases and access to early care results in positive health outcomes and long-term cost benefits for everyone.

“It is a tremendous accomplishment to start improving early detection and prevention, one of the goals outlined in Canada’s Rare Disease Strategy. However, this success was only possible because of the willingness of provincial and territorial governments to work alongside Muscular Dystrophy Canada to add SMA to newborn screening. This is a significant step forward, and we hope it leads to the inclusion of other neuromuscular conditions on screening panels,” said Stacey Lintern, CEO, Muscular Dystrophy Canada. “We are grateful for the partnership with Novartis Pharmaceuticals Canada who helped us make this a reality across Canada and for every clinician, researcher, provincial laboratory lead, volunteer, donor, Canadian Fire Fighter, like minded organization, and government member who supported this project.”

“This initiative holds immense value for the entire Canadian neuromuscular and rare disease community, laying the groundwork for future transformative and life-changing initiatives,” said Dr. Homira Osman, VP of Research and Public Policy, Muscular Dystrophy Canada. “There are many progressive neuromuscular disorders where time is of the essence: early diagnosis and prompt access to treatments are critical drivers to achieving the best possible outcomes. Muscular Dystrophy Canada will now leverage the knowledge and findings gained from this initiative to ensure other neuromuscular disorders are included in newborn screening programs nationwide.”

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ABOUT MUSCULAR DYSTROPHY CANADA

Muscular Dystrophy Canada’s mission is to enhance the lives of those affected 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 explore our website or call our toll-free number at 1-800-567-2873.

FOR MORE INFORMATION CONTACT:

Homira Osman
Vice-President Research & Public Policy
Muscular Dystrophy Canada
Homira.Osman@muscle.ca
437-912-9037

MDC AND PARTNERS LAUNCH CENTRAL HUB FOR NMD SPECIALISTS – A CANADIAN FIRST!

Have you ever looked for a healthcare professional who specializes in the specific neuromuscular disorder (NMD) affecting you or a loved one? If your response is ‘yes’, you share a common experience with many Canadians who frequently seek healthcare professionals experienced in their specific condition. In fact, the second most frequently asked question to MDC’s Research Hotline in 2023 was about finding physiotherapists, occupational therapists, physical medicine and rehabilitation physicians, speech-language pathologists, surgeons, and respirologists with expertise in neuromuscular conditions. This valuable information wasn’t centralized in one location—until now!

For the first time ever all healthcare professionals in neurology or other disciplines focused on NMDs in Canada can connect. The new Canadian Neuromuscular Community of Practice not only helps identify healthcare professionals involved in neuromuscular care, but it also makes it easy for all professionals to learn together, exchange information and broaden their overall knowledge of NMDs!

THANKS TO MDC’S DONORS AND PARTNERS, THE COMMUNITY OF PRACTICE WILL BREAK DOWN BARRIERS FOR THE NMD COMMUNITY BY:

	WHICH WILL …
• Making it easy to share information on NMDs	• Provide timely references to appropriate specialists
• Continually training and educating	• Improve Canadians access to reliable information
• Opening access for peer-to-peer support	• Strengthen the level of NMD expertise in the Canadian medical community
• Allowing for collective problem solving and faster access to experts for advice	• Reduce the time it takes to receive effective care
• Providing access to more NMD experiences	• Improve access to clinical trials in Canada
• Improving Canadian clinical trial readiness and access

Are you a client looking for neuromuscular disorder information or specialists? Are you a healthcare provider looking to join the community of practice or share information? The Canadian Neuromuscular Community of Practice team is happy to help! Contact research@muscle.ca!

The community of healthcare professionals supporting the Canadian Neuromuscular Community of Practice are (pictured from left to right) Dr Warman-Chardon, Dr Lochmüller, Dr Gagnon, Dr Campbell, Dr Schellenberg, Dr Mah, Dr O’Connell, Dr Rodrigue and Dr Plamondon.

YOU ARE BUILDING THE FUTURE OF RESEARCH AND CARE

MDC together with the Neuromuscular Disease Network for Canada (NMD4C) are thrilled to announce the recipients of the National Clinical and Post-doctoral Fellowships competition.

These fellowships are made possible by YOU. They are funded by generous donors and incredible partners like Fire Fighters across the country. Congratulations to Dr Yassine Ouhaddi, Dr Cedric Happi-Mbakam, Dr Yiu- Chia Chang, Dr Mark Krongold, and Dr Bram De Wel.

Learn more

QUEBEC JOINS THE RANKS OF PROVINCES SCREENING NEWBORNS FOR SMA

We are thrilled to announce that spinal muscular atrophy (SMA) has been added to the newborn screening panel in Quebec, a significant milestone for the province and Muscular Dystrophy Canada (MDC). Screening is being integrated now, with full implementation to take place by the end of 2023.

Extensive conversations, collaboration and financial contributions ($583,778) towards the lab program at CHU de Québec-Université Laval, equipment, and building an evidence-based pathway for the early initiation of disease- modifying therapy for individuals with SMA across Quebec, led to this exciting change in policy.

“We couldn’t be happier with the recent news”, said Stacey Lintern, CEO, Muscular Dystrophy Canada. “The addition of SMA to the panel means that infants and families in Quebec will now equitably benefit from the same opportunities as the majority of other Canadians, gaining access to early detection possibly before the onset of symptoms.”

In neuromuscular disorders like SMA, early diagnosis and prompt access to treatments are critical to achieving the best possible outcomes.

“For families, what matters is for their child to have the best chance in life, to be able to do as much as they’re able to do. That is what we can offer with newborn screening for SMA”, said Dr Hugh McMillan, Professor of Pediatrics at the University of Ottawa, Pediatric Neurologist and Neuromuscular Specialist at the Children’s Hospital of Eastern Ontario (CHEO) and Clinical Investigator at the CHEO Research Institute. You can watch Dr McMillan’s video here.

We thank our partner Novartis Pharmaceuticals Canada Inc. as well as donors, clinicians, researchers, families affected by SMA, and Fire Fighters who collaborated with MDC to advocate for the inclusion of SMA on the newborn screening panel.

MDC is currently working with the Maritime provinces to bring newborn screening for SMA to that part of the country. For more information on MDC’s efforts in ensuring all Canadian babies are screened for SMA, visit muscle.ca/services-support/newborn-screening/

If you or a loved one was diagnosed with SMA, MDC has a variety of programs and services for you. Please contact us at 1-800-567-2873 or email info@muscle.ca for personalized support.

Governments across Canada urged to close current gap in care for debilitating neuromuscular disease by funding treatment advancements

Toronto, Ontario – Access to innovative care is vital for Canadians living with myasthenia gravis (MG) to help relieve the considerable impact faced by those affected by this rare neuromuscular disorder. For the first time in over 30 years, treatment advancements for adults with refractory MG have been approved in Canada, bringing hope to those for whom current treatments are ineffective. Yet, none of these new treatments are accessible through public funding, including Soliris (eculizumab), which was the first to be approved in 2018.

“Today, Canadian patients affected by MG who rely on public funding unfortunately spend years navigating challenging processes to show the inefficacy of treatments, only to find out they have run out of accessible options,” says Stacey Lintern, CEO, Muscular Dystrophy Canada. “We are urging provincial and territorial governments to help close the gap in care for Canadians living with myasthenia gravis by immediately enabling access to therapeutic advancements in MG.”

Myasthenia gravis (MG) is a severely debilitating chronic condition that causes progressive muscle weakness leading to an inability to swallow, decreased mobility, respiratory crises, and hospitalization. The diagnosis of MG is often missed or delayed and can take five years, on average, to obtain. The fluctuating and unpredictable nature of MG symptoms, with periods of worsening and remission, has a substantial impact on quality of life. Thus, the main goal of treatment is to achieve either long-term remission or reduce the severity of disease to mild or minimal symptoms.¹

“The extensive hospital visits and critical care resources required to manage an MG crisis can impact the physical, emotional, social and financial well-being of a person, but it also places a financial and resource burden on the provincial healthcare systems,” says Chloe Atkins, who is living with MG. “Earlier public funding of innovative treatments which more effectively control the disease could result in fewer hospital admissions and less damage to the body, meaning a greater quality of life for people living with MG and a decreased strain on our healthcare services.”

In response to the persistent gap in care, the MG community, including medical experts from across Canada, have come forward to express the importance of having immediate access to innovative treatment options for the disease.

“Patients with MG need access to more and different strategies to address both the burden of the disease and the burden of existing therapies,” explains Dr. Hans Katzberg, a neurologist and a member of NMD4C – The Neuromuscular Disease Network for Canada. “Newer treatments for refractory MG and moderate to severe non-refractory MG have the potential to improve the patient’s quality of life by decreasing the frequency and intensity of symptoms, and by helping to reduce the dosage and usage of other medications with higher toxicity or delayed onset of action.”

Following the approval of Soliris, two other drugs for the treatment of MG were approved in Canada – Ultomiris (ravulizumab) in January 2023 and Vyvgart (efgartigimod alfa) in September 2023. However, none of these treatments are currently accessible to patients in Canada through public funding.

“Patients living with MG in Canada should not need to wait for access to more effective, better-tolerated treatment innovations,” underscores Ms. Lintern. “There is an immediate pathway to providing public funding for these treatments across the country, which will help relieve the significant treatment burden that currently impacts those living with this debilitating disorder.”

Muscular Dystrophy Canada appeals to the provincial and territorial drug plans to expedite publicly funded access to all Health Canada-approved treatment options for myasthenia gravis, now and in the future.

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References:

Mapping the Myasthenia Gravis Canadian Journey – Muscular Dystrophy Canada, 2023

ABOUT MUSCULAR DYSTROPHY CANADA

Muscular Dystrophy Canada’s mission is to enhance the lives of persons affected by neuromuscular disorders by continually working to provide ongoing support and resources while relentlessly searching for cures through well-funded research. To learn more about MDC, please visit muscle.ca or call our toll-free number at 1-800-567-2873.

FOR MORE INFORMATION CONTACT:

Heather Rice
Muscular Dystrophy Canada
Heather.Rice@muscle.ca
902-440-3714

Community Statement: Update on Deflazacort®/Calcort® Availability

We want to bring your attention to recent developments surrounding the availability of Deflazacort®/Calcort®, a corticosteroid vital to many Canadians affected by Duchenne muscular dystrophy. Up until 2023, Deflazacort was accessible at a relatively low cost in Canada through Health Canada’s Special Access Program despite intermittent supply shortages. In February, due to a change in the manufacturer, the price of Deflazacort was increased by a staggering 400%. The price increase led to an initial disruption in supply and access but was fully resolved by spring.

In July, the Canadian distributor notified us about delays in the production of Deflazacort originating from issues at the manufacturer’s end. Despite our ongoing attempts to seek updates and influence change, the supply challenges persisted, directly impacting individuals with Duchenne and their families throughout Canada. The positive update is that we received communication last week from the manufacturer, Cheplapharm, indicating that the supply is set to be restored and will soon be accessible again in Canada. The supply of Deflazacort for Canada is undergoing quality control procedures in their warehouse and they have assured us that they will prioritize the delivery to expedite the availability of Deflazacort in Canada. If you are experiencing challenges accessing Deflazacort®/Calcort®, or your pharmacy has questions about this product, please contact us at research@muscle.ca or call 1-800-567-2873 ext. 1114.

We should note that in light of the recurring issues related to supply, stock shortages, and pricing, MDC is eager to collaborate with you, our valued community members, to navigate the optimal approach to addressing these changes. Together, we remain committed to advocating for improved access, affordability, and timely availability of essential medications and therapies for the neuromuscular community.

Thank you,

Stacey Lintern
Chief Executive Officer
Muscular Dystrophy Canada

Quebec joins the ranks of provinces screening newborns for life-threatening disorder

FOR IMMEDIATE RELEASE – Muscular Dystrophy Canada (MDC) is thrilled to announce that spinal muscular atrophy (SMA) has been added to the newborn screening panel in Quebec. A significant milestone for the province and MDC.

“Congratulations to the Government of Quebec on this step, which will lead to early diagnosis and treatments that will have life-changing results for individuals and families,” said Stacey Lintern, CEO, Muscular Dystrophy Canada.

Screening is being integrated now, with full implementation to take place by the end of 2023.

Over the past two years, MDC collaborated with Novartis Pharmaceuticals Canada Inc. as well as clinicians, researchers, people affected by SMA and families, Fire Fighters and donors to advocate for the inclusion of SMA on the newborn screening panel.

Extensive conversations, collaboration and financial contributions ($583,778) towards the lab program at CHU de Québec-Université Laval, equipment, and building an evidence-based pathway for the rapid early initiation of disease-modifying therapy for individuals with SMA across Quebec, led to this exciting change in policy.

“It was important for MDC to go beyond supporting the necessary infrastructure for SMA newborn screening, and to also ensure families receive the best quality care in the event of a positive screening result,” added Lintern. “We couldn’t be happier with the recent news. The addition of SMA to the panel means that infants and families in Quebec will now equitably benefit from the same opportunities as the majority of other Canadians, gaining access to early detection possibly before the onset of symptoms.”

MDC is currently working with Maritime provinces to begin the implementation of newborn screening for SMA. For more information on MDC’s efforts in ensuring all Canadian babies are screened for SMA, visit muscle.ca/services-support/newborn-screening/.

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For more information, contact:

Sylvie St-Amand
Translation and Communication Specialist
Muscular Dystrophy Canada
Phone: 514-244-0381
Email: sylvie.st-amand@muscle.ca

Freya’s life has been changed, thanks to your amazing support

For many, the birth of a child is an exciting, and joyful event. Freya’s birth was no exception. Born last year, Freya was small, beautiful, and one of the first babies to be screened for spinal muscular atrophy (SMA) in Alberta.

In 2020, MDC began work to positively influence policy change, and get SMA included on all existing provincial newborn screening panels across the country. We’re nearly there, as today more than 75% of regions across Canada are offering this life-changing test. This is a huge step towards securing early diagnosis and access to treatment for the next generation of Canadians.

By making a gift today, you can help ensure Canadians of all ages have access to early diagnosis and treatment options.

Donate now!

“When Freya was a few days old, we were called in to get confirmation testing done on her, and her SMA diagnosis was confirmed when she was just two weeks old,” says Taylor, Freya’s mom. “The whole process was quite simple and quick. Once diagnosed, Freya was quickly approved for treatment which she received at 29 days old.”

One in 10,000 babies are born with SMA each year in Canada. Without early diagnosis and access to treatment, many infants will not live past the age of two. Thanks to your gifts, we are close to ensuring all babies across the country, like Freya, are screened and receive treatments that have life-changing results.

Today, Freya is an active toddler, exhibiting no signs of SMA. She is walking, running, climbing and talking like any other child her age.

Your gift today will enable MDC to continue advocating for improved diagnosis and treatment options, ensuring that all Canadians affected by a neuromuscular disorder, regardless of type, have access to the support and treatments that are right for them. Donate today to make a life-changing impact.

“Freya is a happy and healthy child, and I could not imagine what our life would look like if she were not given genetic, SMA-testing at birth,” Taylor says. “The challenges Freya and our family face because of her disorder are very minimal, thanks to early diagnosis and treatment. And while we have had many questions since her diagnosis, the support and information we have received from Freya’s doctors and MDC have helped us tremendously.”

Imagine how you would feel if you found out that your child was born with a degenerative, incurable disorder that would affect their quality of life. Now, imagine that they never received that diagnosis, delaying their access to life-changing treatment by years.

When you donate to MDC, you can help influence leaders to address gaps in our healthcare system, giving people living affected by a neuromuscular disorder a voice and improving their quality of life.

“The work that MDC put into advocating for SMA newborn screening is so important to so many families, and the only reason my family’s life is the way it is today,” Taylor says. “Many families do not have knowledge of the diagnosis or don’t know what they will need in order to give their children the best options in life. I cannot express the amount of appreciation I have for the work MDC put into getting SMA included in newborn testing!”

MDC is working hard to bring positive change to our community and to support the next generation of Canadians. But we need your help.

It takes just one generous act to change our country – and our future – for good.

Donate now!

Neuromuscular Disease Network for Canada Awarded 5-Year Grant from CIHR-IMHA and Funding from MDC to Strengthen Canadian Neuromuscular Research and Care

For Immediate Release: June 21, 2023

Toronto, ON – The Neuromuscular Disease Network for Canada (NMD4C) has received a network grant from the Canadian Institutes of Health Research – Institute of Musculoskeletal Health and Arthritis (CIHR-IMHA), providing funding of $200 000 per year for five years – with matched funding from Muscular Dystrophy Canada (MDC) – to strengthen the care, research and treatment of neuromuscular diseases (NMDs) for all Canadians. The new grant brings together an expanded group of clinicians, scientists and patient representatives under the leadership of Dr Hanns Lochmüller (Children’s Hospital of Eastern Ontario) and Dr Homira Osman (MDC).

“Since 2020, NMD4C has made remarkable progress in uniting Canada’s neuromuscular community. In these rare diseases, it’s crucial that we work together. We’re delighted that we have grown to more than 500 members spanning multiple disciplines, sectors, and areas of expertise. The network has made tremendous strides in building capacity through training and education, providing leadership and advocacy to improve access to approved novel treatments, and strengthening research resources and infrastructure,” explains Dr. Hanns Lochmüller, Senior Scientist, CHEO Research Institute and Professor of Neurology, University of Ottawa. “But there’s still so much more to be done. New scientific challenges and opportunities mean that networking across Canada and the globe is even more important. This new funding will allow us to expand our supportive, collaborative, networked community of neuromuscular stakeholders, bringing together an unparalleled concentration of NMD expertise to provide a Canada-wide platform for communication, collaboration, and best-practice sharing. We’re very grateful to CIHR-IMHA and MDC for the funding that allows us to continue our work. We have some really exciting plans for this next phase of the network, particularly for our young doctors and researchers, and we can’t wait to get started.”

Building on the NMD4C’s successful work over the past three years, this new grant will enable an ambitious new program of research, networking, and clinical transformation to address emerging challenges in the field of NMDs. With a total of 67 named co-investigators from across the country bringing in their wider teams of researchers, this is one of the largest networking projects in the rare disease field in Canada. Matching funds are being provided by Canada’s leading NMD advocacy organization and partner on the grant MDC, for a combined total amount of $400 000 per year of network funding.

“We greatly value our longstanding partnership with the CIHR, and are deeply thankful to our many partners, Fire Fighters, donors, volunteers and supporters who generously give so that we can fund the vital work of NMD4C,” said Dr Homira, Osman, Vice-President, Research and Public Policy, Muscular Dystrophy Canada. “In addition to offering matched funding, our role in the new grant will be to ensure evidence is translated into practices and policies that will make a tangible difference in the lives of Canadians affected by neuromuscular disorders. Aligned with our recently unveiled Breaking Down Barriers five-year strategic direction, we will partner closely with researchers, clinicians, and the neuromuscular community to enhance proactive and collaborative approaches focused on strengthening infrastructure, enhancing capacity, establishing centers of excellence, and facilitating the dissemination of research outcomes.”

This new grant unites people with lived experience, knowledge users, clinicians, and researchers to execute a new research plan with the following objectives:

Learn more “Neuromuscular Disease Network for Canada Awarded 5-Year Grant from CIHR-IMHA and Funding from MDC to Strengthen Canadian Neuromuscular Research and Care”

TOGETHER WE ARE BREAKING DOWN BARRIERS TO IMPROVE ACCESS TO THERAPIES FOR CANADIANS AFFECTED BY FSHD

Canadians affected by facioscapulohumeral muscular dystrophy (FSHD) could face substantial delays in accessing clinical trials and any Health Canada approved life-changing treatments and therapies when they become available. Muscular Dystrophy Canada (MDC) is working with the Canadian Neuromuscular Disease Registry (CNDR) and the Neuromuscular Disease Network for Canada (NMD4C) to help prevent that from happening.

“Studies show that Canadians have less frequent and timely access to therapies for rare diseases, like FSHD; that very few therapies approved elsewhere in the world are even submitted to Health Canada for regulatory approval; and, that if treatment is approved there is a vast difference in who has access across the provinces and we are working hard to change this,” said Stacey Lintern, CEO, Muscular Dystrophy Canada.

There are more than a dozen FSHD therapies currently in development. The work that MDC is leading will help introduce a patient registry and collect information to build a Canada-wide core dataset for FSHD to speed up development, approval and access to treatments regardless of where a person lives in Canada.

“We know from our experience with spinal muscular atrophy therapies that our government requires Canadian data when reviewing a treatment. With this FSHD dataset and registry, MDC wants to get out ahead of the treatments being developed and address the challenges and barriers to access so that Canadians can access treatments as soon as possible. We’re also hopeful more biopharmaceutical companies will establish sites, and conduct clinical trials in Canada,” added Lintern.

“The CNDR is dedicated to working in close partnership with Muscular Dystrophy Canada and NMD4C to promote opportunities to participate in cutting-edge clinical trials for patients affected by FSHD but to also collect data towards ensuring access to future therapies once approved,” said Dr Lawrence Korngut, National Principal Investigator and neurologist at the University of Calgary.

“Enabling Canadians living with FSHD to register in a single national system allows them to signal their interest in participating in clinical trials, provide the essential Canadian baseline data that the regulators want to see, and be contacted when new treatments become available,” said Dr Hanns Lochmüller, NMD4C Investigator and FSHD clinical trialist.

By engaging partners, MDC is committed to breaking down barriers that prevent Canadians from accessing life-changing treatments, not just for FSHD, but for all neuromuscular disorders and investigating additional opportunities that would benefit our community.

Would you like to help determine what is included in the FSHD dataset and share your Canadian experience? Join us for a virtual roundtable by emailing research@muscle.ca