News

Progress on national newborn screening for SMA

To our community,

For many neuromuscular disorders, early diagnosis and prompt access to treatments are integral to achieving positive outcomes. Unfortunately, this is not the reality for most Canadian children born with spinal muscular atrophy (SMA). When time equals neurons, diagnosis at birth is vital. Newborn screening (NBS) gives families the opportunity to make important healthcare decisions from the very beginning and gives every child a chance to realize their developmental potential.

Screening for SMA can detect approximately 97% of cases. Yet Ontario is currently the only province with SMA on their screening panel.

In December 2020, we embarked on a multi-year collaboration with Novartis Pharmaceuticals Canada Inc. to make NBS for SMA a national reality. We recently completed Phase 1 of the project, which assessed the feasibility of including SMA into existing NBS programs and created a readiness assessment plan for implementing a standardized SMA screening program in Canada. Provincial readiness was assessed on the following key factors:

  • Existing infrastructure to conduct specialized screening
  • Accessible treatment
  • Favourable environment to add SMA to NBS panel
  • High readiness among clinical stakeholders to support SMA NBS program
  • Existing infrastructure in-province to confirm diagnosis of SMA through genetic testing
  • Low cost for adding SMA to the NBS

Despite immediate challenges, the assessment highlighted a strong consensus on the value of implementing SMA in NBS programs across Canada and a shared understanding of the urgency.

Today, we are excited to be launching Phase 2 of our work with a call for funding proposals for local NBS for SMA initiatives. It is anticipated that these projects will focus on the setting up of laboratories for testing and/or ensuring efficient uptake of the policy itself. An independent selection committee will review applications in the coming weeks and we expect to announce the first round of funding at the end of June.

We look forward to receiving proposals from medical and laboratory experts across the country. But our work will not stop there. We will continue to engage with policy and decision makers in all jurisdictions to secure NBS for SMA for every newborn.

With support from the SMA community from coast to coast, we are standing up for Canadian babies. Join us in the call to #screenforsma.

Stacey Lintern
Chief Executive Officer

MDC funds seven new projects to propel research forward during challenging times

Toronto, Ontario – Muscular Dystrophy Canada (MDC) is proud to announce an investment of $400,000 to fund seven new research projects in 2021 through the MDC Neuromuscular Disorder (NMD) Research Grant Competition, a dedicated Canadian source of funding for neuromuscular research. MDC will also invest in an international, collaborative, $1.15 million, research project through the European Joint Programme on Rare Diseases (EJP RD).

“Despite an unprecedented time, during which many like-minded organizations and agencies are not in a position to offer research funds in Canada, MDC is able to demonstrate its ongoing commitment to discovering cures,” stated Stacey Lintern, CEO, Muscular Dystrophy Canada. She added, “while others redirected their research funds towards the coronavirus, and this was much-needed, MDC recognized the need to maintain momentum, and ensure the incredible advances currently taking place in research are accelerated.”

In addition to the seven new projects being funded, MDC will continue its support of 12 active research studies from the previous year.

“MDC grant recipients are selected by medical and scientific professionals, as well as Canadians with lived experience. Research proposals are judged based on scientific merit, and the potential to translate findings into initiatives that will positively impact the NMD community,” said Dr. Daria Wojtal, Director of Research, Muscular Dystrophy Canada.

MDC relies on the generosity of donors to fund life-changing research.

Dr. Rashmi Kothary, Deputy Scientific Director and Senior Scientist at the Ottawa Hospital Research Institute and 2019-2020 MDC research grant recipient, said “to the families and donors, I would have to say a huge thank you. From my first day as a researcher, getting my first grant from MDC, you were there. Thank you for sticking by the research community for many, many years. Hopefully we can pay back the trust that you put in us.”

MDC is honoured to fund the exceptional and bright researchers, clinicians and academics who will lead these seven new projects taking place in hospitals and universities across Canada, and around the world.

The 2020-2021 research grant recipients are:

  • Dr. Alex Parker
    A Pharmacogenetic Pipeline for Charcot-Marie-Tooth Disease
  • Dr. Colin Crist
    Promoting Muscle Repair by Pharmacological Inhibition of eIF2a Dephosphorylation
  • Dr. Mohamed Chahine
    Human iPSC-derived Neurons as a Model of Congenital Myotonic Dystrophy Type 1
  • Dr. Nadine Wiper-Bergeron
    Improving Myoblast Transplantation Outcomes via Pharmacological Reprogramming
  • Dr. Nicolas Dumont
    Targeting Defective Stem Cells in a Preclinical Model of Myotonic Dystrophy Type 1
  • Dr. Rima Al-Awar (EJPRD/CIHR Co-funded)
    Safety and Efficacy of a Possible Epigenetic Therapy for Facioscapulohumeral Muscular Dystrophy
  • Dr. Toshifumi Yokota
    Enhancing the Efficacy of Antisense Oligonucleotide Therapy for Facioscapulohumeral Muscular Dystrophy

“Congratulations to the 2020-2021 grant recipients. MDC is committed to supporting opportunities that fulfill our commitment to invest in research that leads to information on diagnosis, treatment and health management of neuromuscular disorders; and, we’re confident that the research funded this year will bring us closer to cures for all children, youth, adults and families affected by neuromuscular disorders,” added Lintern.

DISCOVER THE PROJECTS WE SUPPORT

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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 explore our website or call our toll-free number at 1-800-567-2873

MEDIA CONTACT

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

Reduce the timing between doses for patients with neuromuscular diseases

Jurisdictions across the country have been following National Advisory Committee on Immunization (NACI) recommendation to put off second doses and prolong the time between the first and second doses of two-shot COVID-19 vaccines to up to four months. However, persons with neuromuscular disorders may have respiratory involvement, require immunotherapy and are particularly vulnerable to severe and life-threatening effects from contracting COVID-19 infection. Partial protection for some of the most vulnerable and high-risk patients in the country from this devastating disease is not acceptable, particularly as the virus and variants surge across the country. Together with neurologists, the Neuromuscular Disease Network for Canada, Jesse’s Journey and GBS-CIDP Canada, MDC submitted a letter to Health Minister Patty Hajdu, Dr. Quach-Thanh, Chair of NACI and each provincial health minister urging them to further nuance the list of those who should be prioritized for their second dose by including adults affected by neuromuscular disease.

If need any support accessing your first and/or second dose of the COVID-19 vaccine, please feel free to contact advocacy@muscle.ca.

Open letter to Health Minister Patty Hadju
Open letter to NACI

MDC Change Agents 

As we celebrate National Volunteer Week, we are happy to share that the following members for MDC’s Advocacy Advisory Committee have been selected:

Catherine Boivin
Quebec
Profession: Digital Technologies Specialist and Consultant
Connection to MDC: Adult affected by a NMD

Alfred Breton-Pare
Quebec
Profession: Senior CRA; Project Manager; Clinical Research Manager
Connection to MDC: Parent of a child affected by a NMD, MDC Board Member

Emily Hong-Wing Chan, BSc (Hons), MSW (Cand.)
Ontario
Profession: Social Worker
Connection to MDC: Adult affected by a NMD

Dr. Sue Dojeiji MD, Med, FRCPC
Ontario
Profession: Physiatrist-in-Chief, Clinical educator; Neuromuscular Researcher
Connection to MDC: NMD Clinician-Scientist

Susan Jahnke
British Columbia
Profession: Business Owner & Website Manager
Connection to MDC: Adult affected by a NMD

Corrine Kagan, BA (Hons)
Ontario
Profession: Past Senior Program Director (ABI)
Connection to MDC: Adult affected by a NMD

Dr. Colin Kovacs, MD, Med, FRCPC
Ontario
Profession: Family Medicine/HIV Primary Care Physician; Assistant Professor in Internal Medicine at U of T
Connection to MDC: Adult affected by a NMD, Member of NMD4C

Ken Kramer, Q.C.
British Columbia
Profession: Principal & Senior Associate Counsel at KMK Law
Connection to MDC: Adult affected by a NMD

Louis Joseph Lauziere
Ontario
Profession: Past Senior Policy Advisor in Dept of Justice at Gov of Saskatchewan
Connection to MDC: Adult affected by a NMD

Michael Low, JD
Alberta
Profession: Litigation Associate at Fasken Martineau DuMoulin LLP
Connection to MDC: Parent of a child affected by a NMD

Stefanie Marinich-Lee, LLB.
Ontario
Profession: Lawyer, Corporate HR
Connection to MDC: Adult affected by a NMD

Erin Novakowski
Alberta
Profession: Undergraduate student at U of Alberta; Disability Social Media manager; Writer and Contributor for Accessible Housing Canada
Connection to MDC: Adult affected by a NMD

Thu Parmar, B.Sc. Pharm
Alberta
Profession: Clinical Pharmacist; Managed public drug programs at Alberta MoH; Senior Manager of Government Relations & Public Policy at Hoffmann-La Roche Limited (Roche Canada)
Connection to MDC: NMD Industry Partner

Jalee Pelissier
Ontario
Profession: PT/OT Aide
Connection to MDC: Adult affected by a NMD

Kara Reid, BSc OT
New Brunswick
Profession: Occupational Therapist
Connection to MDC: Member of Neuromuscular Clinic, MDC Board Member

Dr. Kerri Schellenberg  MD, MMedEd, FRCPC, CSCN (EMG)
Saskatchewan
Profession: Neurologist and Medical Director ALS Clinic; Neuromuscular researcher.
Connection to MDC: NMD Clinician-Scientist

Erica Vella, BA
Ontario
Profession: Digital Broadcast Journalist with Global News Toronto
Connection to MDC: Family member of an adult affected by NMD

Fatima Vido-Vecchio, B.Sc. PT
British Columbia
Profession: Physiotherapist
Connection to MDC: Member of Neuromuscular Clinic

Elaine Whitmore
Ontario
Profession: Past CEO of John McGivney Children’s Centre
Connection to MDC: Friend of persons affected by NMD; Advocate

We are thankful to all who applied and applaud our new members for coming forward to help us work together towards inclusive policies that reflects and respects Canada’s diversity, values the neuromuscular experience and are accessibility-focused.

We look forward to influencing positive change together! If you have any questions about advocacy, please email advocacy@muscle.ca

Researchers from across Canada join The Tenaquip Foundation’s Walk4MD to raise awareness and funding for neuromuscular disorder community

FOR IMMEDIATE RELEASE April 15, 2021

Toronto, Ontario – For the second year in a row, Muscular Dystrophy Canada (MDC) is bringing the neuromuscular disorder (NMD) community together virtually for its annual Walk4MD, which raises much needed funds to support Canadians affected – and this year researchers are joining the Walk4MD family.

On June 19 at 3 p.m. EST, thousands of Canadians including six prominent NMD researchers across the country will come together, virtually, to participate in The Tenaquip Foundation’s Walk for Muscular Dystrophy (Walk4MD).

Dr. Reshma Amin from the Hospital for Sick Children in Toronto is excited to be one of the Walk4MD Research Champions. “I look after so many amazing children with neuromuscular disease and their families. They deserve to be celebrated and what better way to do so than in partnership with MDC through the Walk4MD.”

“Important advancements are taking place in research right now, and we want to ensure that these advancements continue, and result in better treatments and ultimately a cure for neuromuscular disorders. We feel very fortunate to have the support of Dr. Reshma Amin, MD; Dr. Bernard Brais, MD, PhD; Dr. Nicolas Chrestian, MD; Dr. Robin Parks PhD; Dr. Gerald Pfeffer, MD, PhD; and Dr. Martine Tetreault, PhD and look forward to our NMD community getting to know these incredible individuals better,” said Stacey Lintern, CEO, Muscular Dystrophy Canada.

She added, “I’m also pleased to share that The Tenaquip Foundation is joining us again as title sponsor, and Global has returned as media sponsor for the second year in a row. Like us, they are committed to raising awareness and funds for the Canadian NMD community.”

The Tenaquip Foundation’s Walk4MD is a signature fundraising event for MDC that raises critical funds to support Canadians impacted by neuromuscular disorders. This year, due to the ongoing COVID-19 pandemic, the funds raised are more important than ever.

“There is still urgency to raise funds to meet the increased needs of our clients during this time,” says Lintern. “Like last year, we’ve had to cancel the majority of our fundraising events for the safety and well-being of our team and the NMD community. That unfortunately, has resulted in a 60 per cent decrease in revenue in our first quarter last year.”

The goal of The Tenaquip Foundation’s Walk4MD this year is to raise $870,000. These funds will be invested in services and programs, like equipment, and ensure MDC can meet the unique needs of the neuromuscular community while continuing to invest in research for better health outcomes for individuals impacted by neuromuscular disorders.

To learn more about The Tenaquip Foundation’s Walk4MD or to register for this exciting event, please visit walk4MD.ca

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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.

MEDIA CONTACT

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

MDC’s Response to the CADTH and INESSS Recommendations for Onasemnogene abeparvovec: A Call for Newborn Screening

At the end of 2020, Health Canada approved Onasemnogene abeparvovec (Zolgensma®) for the treatment of pediatric patients with 5q Spinal Muscular Atrophy (SMA) with biallelic mutations in the SMN1 gene and three or fewer copies of SMN2 gene, or infantile-onset SMA, bringing renewed hope to Canadian families affected by SMA. Onasemnogene abeparvovec is the second treatment approved by Health Canada for SMA and the first gene therapy for SMA. The broad indication as part of Health Canada approval was followed up with recommendations from the Institut national d’excellence en santé et en services sociaux (INESSS) and most recently, the Canadian Agency for Drugs and Technologies in Health (CADTH) Canadian Drug Expert Committees. The recommendations were formulated following a comprehensive evidence-based review of the medication's efficacy or effectiveness and safety and an assessment of its cost-effectiveness. The CADTH recommendations note that Onasemnogene abeparvovec should be for patients who are: symptomatic or pre-symptomatic with one to three copies of the survival motor neuron gene; 6 months of age or younger; not currently requiring permanent feeding or ventilatory support (either invasive or non-invasive).

Based on the patient input we put forward to CADTH and INESSS, we know SMA contributes to a loss of independence, increased load on families, difficulty breathing, swallowing and loss of mobility and can have a negative impact on mental and emotional well-being. Since Health Canada’s approval of treatments for SMA, families have been anxiously approaching age limitations and tirelessly advocating for access. While we commend INESSS and CADTH for their thorough class reviews, we are disappointed to see Onasemnogene abeparvovec is not recommended for those over the age of 6 months and a case-by-case review mechanism has not been suggested by CADTH. This emphasizes the need for a comprehensive Rare Disease Strategy and a process/mechanism to address the evidence gap for older infants and children. We thank the clinical experts for contributing to the reviews and we are in full agreement with the clinical experts that “earliest possible initiation of therapy” is important when it comes to SMA because it is associated with irreversible loss of motor neurons and motor nerves. This means in order to best benefit from the treatments currently approved and available in Canada, a diagnosis should be available as early as possible. Thankfully, this is the case in Ontario – newborn screening for SMA is part of the infant screening panel at birth since 2020. However, for anyone outside of Ontario, a diagnosis prior to 6 months of age is not always achieved. The recent INESSS and CADTH recommendations highlight the critical need for newborn screening, especially in the presence of approved treatments, and strongly provides support for MDC’s current initiative to implement nation-wide newborn screening for SMA.

We acknowledge that the recent approval of another treatment for SMA and related drug review recommendations has taken us another significant step towards early diagnosis and treatment choice. MDC is committed to continually work with individuals affected by SMA and their families on an individualized basis to provide holistic supports, resources for making evidence-informed choices and supporting individual advocacy activities.

We are looking forward to continued research and developments that can demonstrate the meaningful benefits of early diagnosis and early access to treatments for health outcomes and health-related quality of life for Canadians affected by SMA.

Sincerely,
Stacey Lintern
Chief Executive Officer
Muscular Dystrophy Canada



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You can bring people together, even when we have to stay apart

Muscular Dystrophy Canada (MDC) is extremely fortunate to have your support. We are truly grateful that even during these challenging times, together we are able to support the thousands of Canadians impacted by neuromuscular disorders to live their best lives. While at the same time work relentlessly to search for cures and ensure that the neuromuscular community has access to the right diagnosis’, treatments and therapies.

Because of you, we are able to respond to the thousands of requests for support from our client’s and their families, the neuromuscular research community and health care professional’s each and every day.

Canadians with rare disorders, like Susan Jahnke, are extremely isolated during this pandemic. Your support today, can help them create connections.
As you know, living with a neuromuscular disorder (NMD) has its challenges. Add in a global pandemic and it opens up a whole new set of obstacles. We need your support to ensure individuals, like Susan Jahnke, continue to get the support they need during these challenging times. Susan recently shared with us how difficult having a rare NMD has been this past year.

DONATE NOW

“I have a rare neuromuscular disorder that most people understandably haven't heard of, congenital fibre type disproportion. I have good days where I don't feel too bad, and don't think about my disability much - but I haven't had days like that during the pandemic. I'm confronted by being vulnerable every time I read the news or try to plan even a very limited outing. The reminder of how susceptible I am to the complications of COVID-19 is inescapable.

I miss seeing my friends, my mum and my brother, but the hardest part for me has been the tough choices my family had to make. My stepdaughter is in high school, and trying to balance keeping me safe, and keeping her life as normal as possible with her education and work, has meant that she's spending most of her time with her other parent. This has been such a painful balancing act.”

Your support today will mean that people like Susan won’t have to go through this difficult time alone. Your donation will ensure they can access the right services and supports to remove some of the many challenges they face. Together, we can ensure our Service Specialists across Canada are only a phone call away, equipped to work with each and every client and their families to break down barriers and alleviate frustrations.

Susan continued by sharing, “I also have to choose between getting the medical and healthcare I need, and risking COVID-19 exposure. Which is more important? It's such a hard thing to figure out, and my general health has really been suffering. I'm glad I'm able to stay in contact with my general practitioner over the telephone, but I'm missing out on critical care like physiotherapy and seeing specialists. One silver lining of the pandemic is how much it's highlighted the need for connection and I try to find new ways of reaching out, even on the hard days.”

You can keep Service Specialists, like Courtney, just a phone call away for Canadians needing support.
Thanks to you, Susan can connect with friends in the neuromuscular community through virtual network meetings or pick up the phone and call an MDC Service Specialist.

DONATE NOW

People across the country affected by neuromuscular disorders have experienced similar challenges. Challenges no one should have to go through alone. That’s why MDC is so fortunate to have supporters, like you, who recognize the importance of providing opportunities for connection – whether that’s bringing individuals together virtually, or ensuring they have someone like me to reach out to for support,” shared Courtney Stearns, MDC Service Specialist.

Like you, MDC is dedicated to being there for all Canadians affected by neuromuscular disorders. Your generous support makes it possible for Canadians to connect and support each other virtually. And, will mean investments to continue the research momentum we are seeing in Canada. Donors like you make the funding of these incredible research projects go from an idea to action. Please consider making another donation today to move more research projects forward.

I hope we can count on you to continue your support. Your generosity fuels our mission, passion, and hope for a future with cures for neuromuscular disorders. You make an incredible difference.

Warm regards,
Stacey Lintern
CEO, Muscular Dystrophy Canada

P.S. Your donations have funded incredible projects such as a research hotline to answer critical questions from the NMD community, a virtual clinical care program to support home-ventilation, a partnership to make nation-wide newborn screening for SMA a reality and evidence-based webinars to share timely information with our national community. Please consider making a donation today to propel even more critical initiatives forward.

Muscular Dystrophy Canada Receives National Accreditation

March 3, 2021 – Muscular Dystrophy Canada (MDC) has been awarded accreditation in Imagine Canada’s Standards Program for excellence in non-profit accountability, transparency, governance and fundraising. Created “by the sector for the sector”, the Imagine Canada Standards Program is the only national accreditation program that is designed for all Canadian charities and non-profits.

To earn the accreditation, organizations must demonstrate excellence in five fundamental areas: board governance; financial accountability and transparency; fundraising; staff management; and volunteer involvement. Accreditation is a sought-after hallmark of excellence within the sector for funders, donors, sponsors and supporters alike.

Organizations receiving the accreditation are awarded a Trustmark to signal credibility and build confidence with donors.

“The Imagine Canada Standards Program accreditation demonstrates MDC’s commitment to our donors, supporters, all Canadians who are impacted by neuromuscular disorders, and to the work that we do,” said Donna Nixon, Chair, Board of Directors, Muscular Dystrophy Canada.

Nixon added, “We’ve always held to these standards, but by completing this comprehensive application and peer-review process we’ve been able to refine and evolve some of our practices to further strengthen the organization. My fellow directors, the leadership team and staff at MDC were all instrumental in making this accreditation possible. I thank them for their hard work and commitment through the application process, and for ensuring that MDC is upholding Imagine Canada’s standards for excellence and leadership in the non-profit sector each and every day.”

“Earning the accreditation, especially in these changing times, shows remarkable resilience, and a strong commitment to innovation and excellence. We commend the latest well-deserving recipients of the Trustmark for achieving Imagine Canada’s Standards accreditation, and demonstrating outstanding adherence to sound governance,” said Bruce MacDonald, President and CEO of Imagine Canada.

To learn more, visit imaginecanada.ca.

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ABOUT MUSCULAR DYSTROPHY CANADA (MDC)

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. Learn more about MDC online, or call our toll-free number at 1-800-567-2873.

ABOUT THE IMAGINE CANDA STANDARDS PROGRAM

The goals of Imagine Canada’s Standards Program are to increase organizational excellence and transparency of charities and nonprofits, to build resilience and to strengthen public confidence in individual organizations and the sector as a whole. To earn the accreditation, organizations must meet 73 standards in financial management and accountability, fundraising practise, board governance, staff management, and volunteer management.

MEDIA CONTACT INFORMATION:

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

Muscular Dystrophy Canada calls on provincial governments to prioritize persons affected by neuromuscular disorders for COVID-19 vaccine

February 23, 2021 – Many people living with neuromuscular disorders (NMD) are at greater risk of developing serious symptoms and complications as a result of COVID-19 due to their often pre-existing cardiac and respiratory issues and chronic comorbidities. As the voice of the NMD community in Canada, Muscular Dystrophy Canada (MDC) is calling on governments to prioritize people living with hereditary and acquired neuromuscular disorders in their vaccination roll-out.

Specifically, MDC is asking that the following groups of people with neuromuscular disorders be prioritized: adults requiring multiple caregivers or complex ongoing support in the home, community or institutional setting; the caregivers or home care workers who provide ongoing support to children and adults with neuromuscular disorders; adults with severe or unstable respiratory issues; adults with reliance on home ventilation; adults with clinically relevant impairment of heart function; and, adults receiving immunosuppressants.

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