Patient registries

Patient registries collect information about individuals who are affected by a particular condition. The data collected may be used for a range of purposes, from research into specific features of the disease to clinical trial feasibility planning and recruitment. In many cases, patients self-register and provide their own data in a safe and secure manner, meaning they can be contacted with information relevant to their condition and notified when they may be eligible for research studies and clinical trials.

Read a recent publication about neuromuscular patient registries here.

Hanns is a key opinion leader in rare disease registry activities internationally and has published extensively on research data gained from patient registries. From 2007-2012 he co-led the development of patient registries for TREAT-NMD, the international neuromuscular network. He continues to be involved in international registries for several neuromuscular conditions and recruits patients into the Canadian Neuromuscular Disease Registry (CNDR).

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Relevant publications

Munn, JS, Cohen, E, Hodgkinson, V, Lochmüller, H, Osman, H, Jewett, G et al.. Advancing neuromuscular disease research through real-world data: Challenges and lessons learned. J Neuromuscul Dis. 2026. 22143602261456016 PMID:42261210

Schellenberg, KL, Osman, H, Masnata, M, Hicks, R, Kagan, C, Stosic, A et al.. Implementation of a neuromuscular clinical trial network: a rare disease model for enhancing clinical trial readiness, capacity, and access in Canada. Orphanet J Rare Dis. 2026. PMID:42192450

Kools, J, Korngut, L, Petrillo Ballantyne, J, Roozen, I, de Haas, R, Hill, A et al.. A toolkit for new facioscapulohumeral muscular dystrophy trial sites. J Neuromuscul Dis. 2025. 22143602251399244 PMID:41451875

Voigt-Müller, C, Pfaffenlehner, M, Bernert, G, Cetin, H, Hagenacker, T, Kölbel, H et al.. Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry. Brain. 2026.149 (3)818-827 PMID:41431300

Becker, B, Cordts, I, Becker, J, Günther, R, Baumann, M, Bernert, G et al.. Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study. J Neuromuscul Dis. 2025. 22143602251370577 PMID:40938628

O'Connell, C, Rodrigue, X, Hodgkinson, V, Henley, K, Slayter, J, Aleman, A et al.. Thinking outside the box: A re-evaluation of Canadian recommended outcome measures in adult spinal muscular atrophy - report of a national consensus workshop. J Neuromuscul Dis. 2025.12 (5)699-710 PMID:40356341

Weiß, C, Becker, LL, Friese, J, Blaschek, A, Hahn, A, Illsinger, S et al.. Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study. Lancet Reg Health Eur. 2024.47 101092 PMID:39434961

Lochmüller, H, Evans, D, Farwell, W, Finkel, R, Goemans, N, de Lemus, M et al.. Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients. J Neuromuscul Dis. 2018.5 (2)131-133 PMID:29865093

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

Thompson, R, Robertson, A, Lochmüller, H. Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease. Adv Exp Med Biol. 2017.1031 97-124 PMID:29214567