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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We have had to learn to be patient with each other when navigating this new way of life. We have spent hours on Zoom calls with physiotherapists, occupational therapists, and kinesiologists in order to get Max moving. There were many times, we wished we could just be there in person. It has been hard but extremely rewarding when the person on the other side of the screen tells you how well Max is doing!
fact that I was not able to see them when they were sick. This was not only because of the restrictions in my province, but because I have a rare condition called Myasthenia Gravis, which puts me at risk for possible severe COVID-19 complications. 
pandemic has made healthcare challenging; appointments are postponed, cancelled, changed to virtual or preceded by a virtual call. 
neuromuscular condition called Nemaline Myopathy and is at risk for severe COVID-19 complications due to weak respiratory muscles. 
the COVID-19 pandemic by the lack of access and the ability to attend primary and specialist appointments. She was scheduled to have surgery in Spring 2020 and is still waiting. The presence of COVID-19 has shifted our awareness to those with disabilities and health issues but it still hasn’t allowed families the ability to get proper resources to live normal lives. 
Muscular Dystrophy definitely presents new challenges. Winters have always been challenging with mobility issues and accessing things safely, but a pandemic definitely it ups the ante.
Myopathy, to a rare non-degenerative orphan disease: Bethlem Myopathy. In 2020, three issues turned my life upside down in COVID times. First, I turned 65 which meant I was in the high-risk group for COVID on top of my neuromuscular condition. Then, I fell and broke my arm.Third, my caregivers, not knowing anything about this disease and the effects that it could have on my body, refused to treat me. When I was hospitalized, the COVID-19 pandemic complicated things: I spent 14 days in isolation in the hospital without orthopaedic treatment. I witnessed first-hand the many challenges that healthcare staff had to face and deal with in the pandemic. I felt the strain on orthopedic care, as I had to fight for a few essential treatments so that I could use my arm and start walking again. Denying me these treatments was like nailing me to a wheelchair. Today, I continue to fight for my right to autonomy in the pandemic."
Neuropathy, during the COVID-19 pandemic has been difficult to say the least. I have been shut off from a lot – a lot more than usual life with a rare condition. The simple things like going to a coffee shop or going for a walk through the mall are now gone. For me this was my only way to get out as it was easier on my legs to walk. It has been hard not only on my body but also on my mind – on my emotional and mental health. I always knew living with a rare condition like CMT made me appreciate the little things, but now more than ever I appreciate all the little things in life.”
“hibernate” in the winters, so I had a well-stocked freezer and much that I needed. I already worked from home and in a way was prepared. In a sense, I felt I was made for this, having had to adapt all my life to various situations. I make sure I am okay on all levels, get the rest I need, connect with people regularly, attend church online, let my doctor know if anything is happening, have what I need delivered, recognize that this is a difficult time, take in the facts, and then strive to find bits of joy (for example, I play music). 
could not physically see some of my family and friends for almost a year now. I’m tired of eating my own cooking. I don’t get enough exercise or fresh air because I’m not even grocery shopping as often, particularly in the winter. There are some benefits: telephone doctor appointments to renew prescriptions and learning new technology skills. I was skeptical about virtual physiotherapy appointments, but it has worked quite well. In spite of the challenging 11 months, I’m thankful I have hobbies that keep me connected like volunteering with Myositis Canada and participating in the Muscular Dystrophy Canada virtual network meetings.
been tough. I have to take careful precautions when venturing out in the community. 
the pandemic exacerbated the challenges we are already facing. For our son Éloi, it meant delays in medical assessments and for some treatments. With the confinement, we have also witnessed a pause in clinical research activities and restrictions to travel to hospitals located in other provinces. With precious time passing by, it could mean losing eligibility to an investigational treatment (either by aging, loss of physical capabilities or end of recruitment). With the vaccination currently ongoing, let’s hope all activities will return soon to a normal setting for every families within our community.” 
I also have Becker’s Muscular Dystrophy. I wanted to share my story with dedicated donors, like you, because you’re having a profound impact on the lives of so many people affected by neuromuscular disorders – in ways that you may not even realise. And for that you deserve much gratitude and thanks.