Rare Disease Day 2021 Recap

Observed annually on the last day of February, Rare Disease Day seeks to raise awareness among the general public, as well as policymakers, public authorities, industry representatives, scientists, and health professionals.

 

Due to the COVID-19 pandemic, activities this year were mainly virtual. But that did not stop patients, caregivers, researchers, clinicians, advocates and patient organizations like MDC from sharing stories on social media platforms, participating in academic and community discussions, and holding virtual campaigns to “recognize rare.” In the days leading up to Rare Disease Day, MDC celebrated by bringing awareness to different groups of neuromuscular disorders. MDC also shared powerful stories of on how children and adults are managing their rare disease during the COVID-19 pandemic.

The stories highlighted the resilience of individuals and their families, the benefits of virtual tele-care and programs for those with mobility challenges and the positive lessons the pandemic has offered.

Click here if you missed the stories!

 

Rare Disease Day also served as a great opportunity to share exciting announcements, like:

    • The declaration of International Myotonic Dystrophy Day as September 15, 2021. This day is a collaboration of dozens of myotonic dystrophy groups and organisations from around the globe – each dedicated to helping raise awareness of the condition in their local geographies on September 15, 2021 and beyond. The NMD4C & MDC are proud to be a part of this global alliance in declaring September 15th International Myotonic Dystrophy Awareness Day!

 

 

  • The results of the European Joint Programme for Rare Diseases (EJP RD) JTC 2020 call on pre-clinical research were announced. ProDGNE, a project which will unify European and Canadian (Dr. Hanns Lochmuller) efforts to develop an innovate therapeutic approach for GNE myopathy, an ultra-rare muscle disease, obtained co-funding under the EJP RD JTC 2020 call on pre-clinical research.

 

 

  • MDC has been in partnership with CIHR in the EJP RD competition since 2013. This year, MDC together with CIHR will support the FSHD (EPiTHE4FSHD) (Facioscapulohumeral muscular dystrophy) study (Dr. Rima Al-Awar), which aims to use cellular and animal models of FSHD to investigate a novel pharmacological approach that could represent a promising therapeutic option for patients.

 

Rare Disease Day also helped bring the neuromuscular community up in media. Muscular Dystrophy Canada and Jesse’s Journey were pleased be part of a 2021 Rare Disease Day initiative called Canada’s Rare Voices. This is an online program, the largest of its kind in recent memory, devoted entirely to increasing the visibility of Canada’s rare disorder communities. MDC was featured in a story about the power of partnerships – teaming up to take on neuromuscular disorders.

Please check out the article here!

image001

Read next...

New Publication from the NMD4C Clinical Trial Network Strengthens Trial Capacity in Canada

We are pleased to share a new publication from the NMD4C Clinical Trial Network led by Kerri Lynn Schellenberg, Homira Osman, Maria Masnata, Rhiannon Hicks, Corinne Kagan, Ana Stosic, Stacey Lintern, Erin Beattie, Drs. Hanns Lochmüller, Craig Campbell, and Jean K Mah. This work focuses on the implementation of a coordinated Canadian neuromuscular clinical trial network to enhance trial readiness, capacity, and access in rare disease research.

Canadian-Led Phase II Studies Advance Vamorolone Evidence in Duchenne Muscular Dystrophy

Canadian-Led Phase II Studies Advance Vamorolone Evidence in Duchenne Muscular Dystrophy

NMD4C investigators contributed to two phase II studies evaluating vamorolone in boys with Duchenne muscular dystrophy across early childhood and adolescence, demonstrating safety, favorable pharmacokinetics, and potential efficacy. Led by Dr. Jean Mah and conducted across Canadian clinical trial sites with national and industry collaborators, the findings supported Health Canada approval of vamorolone as the first treatment for DMD in Canada. Leaders from both the clinical and patient advocacy communities, including Defeat Duchenne Canada, highlighted the impact of collaboration among patients, families, clinicians, and researchers in advancing care and improving access to new therapies.

06-2026 NMD4C AFC Program Launch & September Workshop

Advancing AFC in Neuromuscular Medicine: Program Launch & September Workshop

The Royal College has approved National Training Standards for the AFC in Neuromuscular Medicine, creating a formal pathway to recognize enhanced competence with the DRCPSC credential. This designation establishes a national training standard, supports portable certification, and strengthens clinical capacity across Canada. PGME offices can now apply to offer accredited AFC programs, with a goal of five programs submitting applications by the end of 2026.