The Neuromuscular Disease Network for Canada



Working Group Members: Jason Karamchandani, Bernard Brais, Rashmi Kothary, Jodi Warman Chardon, Hanns Lochmüller, Homira Osman, Gerald Pfeffer, Élise Duchesne


Biobanks are organized collections of biomaterial samples available for research. In rare diseases like neuromuscular disease, the number of available biosamples is often very limited, which hinders research into disease pathogenesis and mechanisms and therapy development. Making rare disease blood, DNA, urine and tissue samples accessible for reuse is thus particularly important, as each sample is of great value.

While several Canadian institutions maintain biobanks collecting samples of NMD patients among other pathologies, Canada still lacks a coordinated effort to systematically collect, process, store and provide NMD samples for research. Canadian NMD patients, who are typically highly willing to donate samples for research into their condition, often don’t have the opportunity to do so because of the lack of infrastructure, information and training. NMD4C will create a virtual Canadian NMD biobank, with a central catalogue linked to international initiatives such as EuroBioBank.

Read about the importance of international networks of biobanks here.

While the virtual biobank is in development, the NMD4C biobanking group has identified eight Canadian neuromuscular biobanks that collect and prepare a variety of samples covering a range of neuromuscular diseases. Each of these sites has kindly provided information about what samples they collect and the conditions and policies for researchers to access them, which you can find listed on our interactive map.

To support easy access to samples by the researchers who need them, the network will develop SOPs, ethics guidance and data linkage tools according to the FAIR principles, in particular linking to phenotypic data in the CNDR and making use of standardized ontologies such as the Human Phenotype Ontology. Canadian NMD researchers will thus have improved access to high-quality biomaterials from Canadian NMD patients for translation and back-translation.


  • Central catalogue for Canadian virtual NMD biobank
  • SOPs and ethics guidance for sample and data collection
Researcher wearing gloves arranging blood sample tubes in a rack

Relevant publications

Devereux, L, Watson, PH, Mes-Masson, AM, Luna-Crespo, F, Thomas, G, Pitman, H et al.. A Review of International Biobanks and Networks: Success Factors and Key Benchmarks-A 10-Year Retrospective Review. Biopreserv Biobank. 2019.17 (6)512-519 PMID:31794678

Mingirulli, N, Pyle, A, Hathazi, D, Alston, CL, Kohlschmidt, N, O'Grady, G et al.. Clinical presentation and proteomic signature of patients with TANGO2 mutations. J Inherit Metab Dis. 2020.43 (2)297-308 PMID:31339582

Spitali, P, Hettne, K, Tsonaka, R, Charrout, M, van den Bergen, J, Koeks, Z et al.. Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies. J Cachexia Sarcopenia Muscle. 2018.9 (4)715-726 PMID:29682908

Gainotti, S, Torreri, P, Wang, CM, Reihs, R, Mueller, H, Heslop, E et al.. The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers. Eur J Hum Genet. 2018.26 (5)631-643 PMID:29396563

Reza, M, Cox, D, Phillips, L, Johnson, D, Manoharan, V, Grieves, M et al.. MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. Neuromuscul Disord. 2017.27 (11)1054-1064 PMID:28864117

Lochmüller, H, Schneiderat, P. Biobanking in rare disorders. Adv Exp Med Biol. 2010.686 105-13 PMID:20824442

Lochmüller, H, Aymé, S, Pampinella, F, Melegh, B, Kuhn, KA, Antonarakis, SE et al.. The role of biobanking in rare diseases: European consensus expert group report. Biopreserv Biobank. 2009.7 (3)155-6 PMID:24835882

Lochmüller, H, Badowska, DM, Thompson, R, Knoers, NV, Aartsma-Rus, A, Gut, I et al.. RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases. Eur J Hum Genet. 2018.26 (6)778-785 PMID:29487416

Lochmüller, H, Le Cam, Y, Jonker, AH, Lau, LP, Baynam, G, Kaufmann, P et al.. 'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases. Eur J Hum Genet. 2017.25 (2)162-165 PMID:27782107

Mora, M, Angelini, C, Bignami, F, Bodin, AM, Crimi, M, Di Donato, JH et al.. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases. Eur J Hum Genet. 2015.23 (9)1116-23 PMID:25537360

Read next...


Clinical guidelines

Development, dissemination, and implementation of clinical guidelines (Leads: Cynthia Gagnon, Kathryn Selby, Maryam Oskoui, Reshma Amin, Homira Osman) Canadian neuromuscular clinicians and scientists have contributed...

Patient registries

Leads: Craig Campbell, Lawrence Korngut Patient registries collect information about individuals who are affected by a particular condition and are a particularly important research and...
Clinical trial

Clinical trial coordination resources

Leads: Craig Campbell, Jim Dowling Currently, NMD trial sites are approached by sponsors (pharmaceutical companies and their contract research organizations) individually, in an uncoordinated fashion....

Training and education

A key goal of NMD4C is to train and educate the next generation of NMD stakeholders. Genomics training (Leads: James Dowling, Jodi Warman Chardon) Canadian...

Network development

Bringing people together to achieve joint goals and share expertise is a crucial foundation for better research and care across Canada. NMD4C is a sustainable...