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).

laptop

Relevant publications

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. 2025. 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

Schwartz, O, Vill, K, Pfaffenlehner, M, Behrens, M, Weiß, C, Johannsen, J et al.. Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial. JAMA Pediatr. 2024.178 (6)540-547 PMID:38587854

Vill, K, Tacke, M, König, A, Baumann, M, Baumgartner, M, Steinbach, M et al.. 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2. J Neurol. 2024.271 (5)2787-2797 PMID:38409538

Günther, R, Wurster, CD, Brakemeier, S, Osmanovic, A, Schreiber-Katz, O, Petri, S et al.. Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study. Lancet Reg Health Eur. 2024.39 100862 PMID:38361750

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