Announcements – 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

Moving Research & Discovery Forward – The 2024 Neuromuscular Clinical and Translational Research Grant Recipients

Muscular Dystrophy Canada (MDC) is pleased to announce the recipients of its annual Neuromuscular Research Grants competition. Through these grants, MDC is investing $900,000 into clinical and translational research projects focused on managing healthcare, understanding diagnosis and disease progression, enhancing care, discovering novel treatments and therapies and moving research towards the development of cures.

This year, the funded studies focus on spinal muscular atrophy, Duchenne muscular dystrophy, myotonic dystrophy, dysferlinopathies, limb-girdle muscular dystrophies, immune-mediated myopathies, autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and cross-cutting research with findings that will inform a wide range of neuromuscular disorders. Additionally, thanks to the generosity of our supporters, MDC was able to invest $63,630 towards an innovative natural history study led by Dr. Gonorazky on Charcot-Marie-Tooth disease, bringing our investment in research projects close to $1 million.

“These grants fund research across a broad set of neuromuscular disorders, help fill current gaps in the funding landscape, and honour our commitment to increasing opportunities for translational research,” said Stacey Lintern, CEO, Muscular Dystrophy Canada. “Of course, this is only possible thanks to our generous donors, incredible supporters, Fire Fighters and volunteers. I’d also like to thank the clinicians and researchers on our Scientific Review Panel, as well our Lived Experience Readers who volunteered their time and expertise in selecting this year’s recipients.”

2024-2025 clinical and translational science research grant recipients:

Dr Haim Abenhaim
Maternal and neonatal outcomes of cesarean deliveries in women with muscular dystrophy

Dr Krista Best
Efficacy of wheelchair skills training to improve mobility for people with ARSACS and DM1

Dr Nathalie Bier
Understanding the impact of central nervous system impairments on daily life in myotonic dystrophy

Dr Rageen Rajendram
Utilizing AI to predict non-invasive ventilation need in neuromuscular disorders: a proof of concept

Dr Karine Choquet
Elucidating DYSF pre-mRNA splicing to inform therapeutic avenues for dysferlinopathies

Dr Lisa Hoffman
Angiopoietin-1 enhances microdystrophin replacement therapy for Duchenne muscular dystrophy

Dr Rashmi Kothary
Maternal transfer of AAV vectors: a minimally invasive approach to deliver SMN-gene therapy for SMA

Dr Keir Menzies
A new in vitro eccentric muscle contraction assay for drug repurposing for muscular dystrophy

Dr Gerald Pfeffer
Single nucleus RNAseq biomarkers in adult-onset muscle diseases

Learn more about MDC’s research investments and the incredible projects that will improve our understanding and drive the development of new treatments and cures for NMDs:

Watch the full Neuromuscular Research
Grants announcement

Current Grants

Looking to connect with MDC’s Research Team? No problem! Contact our Research Hotline at research@muscle.ca

Abilities (at the) Centre of new location for Walk and Roll for Muscular Dystrophy Canada

FOR IMMEDIATE RELEASE June 16, 2023

Toronto, Ontario – The 2023 Walk and Roll for Muscular Dystrophy Canada (MDC) has changed venues from a local park to the Abilities Centre in Whitby in an effort to ensure the event is as accessible as possible for all participants. It takes place on June 25, 2023.

“MDC is committed to breaking down barriers for the neuromuscular community. When we determined that the park location originally selected to host the Durham Walk and Roll for Muscular Dystrophy Canada posed accessibility issues for individuals using mobility devices, we set out to find a new site,” said Stacey Lintern, CEO, Muscular Dystrophy Canada. “We couldn’t be happier to be partnering with the Abilities Centre. It is the perfect space for the Walk and Roll event, and our community.”

Walk and Roll for Muscular Dystrophy Canada is MDC’s signature fundraising event, raising funds to provide Canadians affected by neuromuscular disorders support programs and services, invest in ground-breaking research and advocate for better public policies. Thirty-three events are taking place across Canada with an overall goal of raising $1.3 million.

The Abilities Centre strives to make communities more accessible and inclusive to increase the quality of life for every individual and enable them to participate fully in community life. They offer a wide range of programs and services, and lead research and advocacy on inclusion issues.

“Events like the Durham Walk and Roll for Muscular Dystrophy Canada are so important to bring attention to, and raise funds for, the organizations that are working tirelessly to make the communities where we live, work, and play more accessible and inclusive,” said Ross Ste-Croix, General Manager & COO of Abilities Centre.

Previously known as the Walk for Muscular Dystrophy, the nationwide fundraising event also underwent a name change this year to be more inclusive and reflective of the neuromuscular community. Anyone interested in participating in the Durham Walk and Roll for Muscular Dystrophy Canada can register at walkrollmdc.ca

The Durham Walk and Roll for MDC fundraising goal for 2023 is $53,000. Support your community by making a donation here.

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ABOUT MUSCULAR DYSTROPHY CANADA

ABOUT ABILITIES CENTRE

Abilities Centre exists to unlock potential through accessibility. Whether through vocational services, therapeutic recreation, adult day programs, or sport and recreation, every program and service at Abilities Centre is aimed at re-imaging how Canadians live, work and play. We continue to focus our impact to build towards an inclusive, barrier-free life for all Canadians. For more information abilitiescentre.org

FOR MORE INFORMATION CONTACT:

Heather Rice
Heather.Rice@muscle.ca
902-440-3714

FUNDING FOR INNOVATIVE THERAPIES FOR HEREDITARY ATAXIAS

For immediate release

Montréal, April 28, 2023 – It is with great enthusiasm that Génome Québec, Ataxia Canada and Muscular Dystrophy Canada announce the launch of the Innovative Therapies for Hereditary Ataxias competition to encourage the discovery and development of new therapies and to mobilize the research ecosystem. The three organizations aim to jointly invest $1M to support projects with a maximum of $330,000 per project for a period of two years.

The goal of this competition is to meet the needs of people affected by these rare neurological diseases, to enable them to benefit from genomic innovations and to encourage the development of innovative therapies. It supports the objectives and orientations of the provincial and federal governments, notably by accelerating therapeutic innovation (Politique québécoise pour les maladies rares) and by supporting research to improve access to affordable and effective drugs for the treatment of rare diseases.

This competition is open to researchers affiliated with a Québec university and its affiliated institutions (including hospitals and research institutes).

The deadline for submitting the mandatory registration to Génome Québec is June 8, 2023.

Learn more “FUNDING FOR INNOVATIVE THERAPIES FOR HEREDITARY ATAXIAS”

Celebrating outstanding commitment through the Dr David Green Awards

These individuals show extraordinary commitment to raising funds, increasing awareness and advocating for the neuromuscular disorder (NMD) community, supporting continued research, engaging other community members and building positive connections.

Volunteers are the backbone of our organization. They share creative ideas, give their time, and contribute their experiences to help advance advocacy efforts, push research forward, and deliver essential programs and services. MDC is very grateful to have such amazing individuals and groups committed to supporting our mission and the Canadian NMD community.

Learn more about our 2023 award winners.

International research competition results in funding for innovative Collagen 6- related dystrophy research projects

Muscular Dystrophy Canada (MDC) is pleased to announce two Collagen 6- related dystrophy (Col6-RD) research projects will be funded thanks to generous donors, and a partnership with Cure CMD (Congenital Muscular Dystrophy).

Collagen 6- related dystrophies (Col6-RD) are genetic types of muscular dystrophies that include Bethlem myopathy, Ullrich congenital muscular dystrophy and intermediate forms (Limb-girdle muscular dystrophy R22/D2). They are characterized by muscle weakness that can begin in infancy and can affect mobility, breathing, eating and activities of daily living.

Currently there is no cure for Col6-RD and knowledge on how the disorder develops is limited. Research is the essential next step towards therapy development.

Learn more “International research competition results in funding for innovative Collagen 6- related dystrophy research projects”

Muscular Dystrophy Canada Is Participating in Clinical Trials Quebec’s Pilot Project

Muscular Dystrophy Canada (MDC) is proud to announce it has joined Clinical Trials Quebec’s Personalized Support Service pilot project.

The new program, developed by Clinical Trials Quebec and powered by CATALIS Quebec, is a free, bilingual resource designed to offer patients and caregivers in Quebec the possibility of finding clinical trials meeting their criteria. The service’s goal is to provide patients and their loved ones with accurate and verified information so they can initiate or facilitate discussions with their medical team about participating in a clinical trial.

Learn more “Muscular Dystrophy Canada Is Participating in Clinical Trials Quebec’s Pilot Project”

Celebrating the heart and soul of the Canadian neuromuscular disorder community

At Muscular Dystrophy Canada (MDC) we value the incredible community across the country who champion our mission with courage, determination, and passion. Through the Dr. David Green Awards program, we recognize and celebrate these incredible groups and individuals each year.

We are excited to announce the list of our esteemed 2022 award winners. These individuals show extraordinary commitment to raising funds, increasing awareness and advocating for the neuromuscular disorder (NMD) community, supporting continued research, engaging other community members and building positive connections.

“MDC is extremely fortunate to have such incredible individuals and groups committed to supporting our mission and the Canadian NMD community,” says Stacey Lintern, CEO, Muscular Dystrophy Canada. “Volunteers are the backbone of our organization. They fundraise, share creative ideas, give their time, contribute their experiences and help to advance advocacy efforts, research and programs and services. Thank you doesn’t even begin to cover just how appreciative we are for each and every one of this year’s recipients.”

2022 Dr. David Green Award recipients

Muscular Dystrophy Canada and Independent Living Canada partner to help lead the development of Canada’s first ever Disability Inclusion Action Plan

FOR IMMEDIATE RELEASE

Toronto, ON – January 27, 2021 – Muscular Dystrophy Canada (MDC) and Independent Living Canada (IL Canada) are partnering to equitably consult with individuals, organizations and stakeholders across disabilities to help inform the development of Canada’s first Disability Inclusion Action Plan (DIAP).

Beginning in January 2022, this 15-month collaboration will both inform the development of the DIAP in advance of its release, and continue to assess and improve the Plan throughout its implementation. The DIAP will focus on reducing poverty among persons with disabilities, getting more persons with disabilities employment opportunities, and realizing the goal of the Accessible Canada Act to achieve a barrier-free Canada by 2040, making it easier for persons with disabilities to access federal programs and services and fostering a culture of inclusion. Our goal is to ensure all Canadians have the opportunity to provide feedback, express concerns, and share their experiences to make this vital action plan as inclusive and impactful as possible.

With over 100 disability organizations invited to collaborate on this engagement process, IL Canada and MDC were selected to co-lead this project with support and funding from Employment and Social Development Canada (ESDC).

“For The Disability Action Plan to make a real impact in the lives of persons with disabilities, it has to be informed by lived experience. I’m grateful that Muscular Dystrophy Canada and Independent Living Canada will be working with the disability community to determine what barriers are still preventing persons with disabilities from participating in society, and how Canada can remove them to create a more equal, inclusive, and prosperous country” says The Honourable Carla Qualtrough, Minister of Employment, Workforce Development and Disability Inclusion.

IL Canada and MDC look forward to leading this process while ensuring representation from within all areas of disability, including racialized and LGBTQ2S+ communities.

“Independent Living Canada is thrilled to be leading this consultation process in partnership with Muscular Dystrophy Canada, the pillar leads, and individuals affected by disabilities from coast-to-coast to coast. This is a once-in-a-lifetime opportunity to ensure that the voices of marginalized and hard-to-reach people affected by disabilities are provided the opportunity to have their voices heard about what should be included in the first-ever federal Disability Inclusion Action Plan,” says Anne MacRae, National Executive Director, Independent Living Canada.

“Muscular Dystrophy Canada is honoured to work in partnership with IL Canada to consult Canadians affected by disabilities and share these experiences in a method that will drive the implementation of the much needed Disability Inclusion Action Plan,” says Stacey Lintern, CEO, Muscular Dystrophy Canada. “This is a vital action plan which will impact each and every Canadian in some way. We look forward to expanding our person-centred approach and ensuring all voices are heard throughout this process.”

MDC and IL Canada look forward to working with Inclusion Canada, Canadian Council on Rehabilitation and Work, Canadian Association of the Deaf, and Eviance who have been designated as leads for the four respective thematic pillars of the DIAP: Financial Security, Employment, Accessible and Inclusive Communities and a Modern Approach to Disability.

“At Inclusion Canada we are extremely excited about hearing from persons with a disability, their representative organizations and stakeholders across the country as the lead on the financial security pillar of the Disability Inclusion Action Plan,” says Krista Carr, Executive Vice-President, Inclusion Canada. “Hundreds of thousands of people with disabilities in Canada live in poverty and this urgently needs to change. We are looking forward to getting started right away.”

“We are pleased and excited at the funding support for this project. We really look forward to working with our partner organizations in building new bridges to hard-to-reach components of the Deaf, Deaf-blind and disabled communities across Canada,” says Jim Roots, Executive Director, Canadian Association of the Deaf.

“The Canadian Council on Rehabilitation and Work (CCRW) recognizes the capability of persons with disabilities, and supports their choices for equitable and meaningful participation in work. We are proud to be a pillar of change and build up the community by sharing our values, knowledge and commitment to Disability Inclusion and ensuring that there is an equitable approach to disability inclusive design,” says Maureen Haan, President and CEO, CCRW. “We are honoured to be involved in the development of the DIAP as the lead agency of the Employment Pillar. We are excited and motived to ensure this project will bring change and a voice to those with lived experience that remain hard-to-reach and marginalized populations with disabilities.”

“Eviance looks forward to collaborating on this important piece of work, and bringing together the knowledge and diverse experiences of persons with disabilities, to strengthen the federal Disability Inclusion Action Plan,” says Dr. Susan L. Hardie, PhD, Executive Director, Eviance.

About Muscular Dystrophy Canada

About Independent Living (IL) Canada

Founded in 1986, Independent Living Canada is a national non-profit association of Independent Living Centres led by and for people with disabilities who promote the Independent Living Philosophy. IL Canada supports the development of Independent Living Centres, and provides education and leadership for its member organizations, partners and communities.

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Media Contact

Heather Rice
Director, Marketing and Communications
Muscular Dystrophy Canada
heather.rice@muscle.ca
902-440-3714

Muscular Dystrophy Canada joins forces internationally to impact greater change at home

October 22, 2021 – Muscular Dystrophy Canada has signed a Statement of Intent with Muscular Dystrophy UK, Muscular Dystrophy Australia and Muscular Dystrophy Foundation of South Africa to help break down barriers for individuals living with neuromuscular disorders, worldwide.

“Our organizations share similar missions and values, and face similar challenges and hurdles. By coming together, we hope to share insights, policies and training to have a greater impact on the neuromuscular communities we support,” said Stacey Lintern, CEO, Muscular Dystrophy Canada.

The organizations recognize the need to work more actively on equality, diversity, inclusion and accessibility issues, and hope that more organizations will join them in the future.

“By working together on these issues, and sharing learnings with our partners, MDC will be able to more effectively and efficiently create sustainable change here in Canada, and play a role internationally,” added Lintern. “It has been an incredible experience working with these organizations thus far, and I have no doubt that our combined expertise and knowledge will result in positive changes for neuromuscular communities in the near future.”

ABOUT MUSCULAR DYSTROPHY CANADA

FOR MORE INFORMATION CONTACT:

Heather Rice
heather.rice@muscle.ca
902-440-3714