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

Wood, L, Bassez, G, Bleyenheuft, C, Campbell, C, Cossette, L, Jimenez-Moreno, AC et al.. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis. 2018.13 (1)155 PMID:30185236

Kodra, Y, Weinbach, J, Posada-de-la-Paz, M, Coi, A, Lemonnier, SL, van Enckevort, D et al.. Recommendations for Improving the Quality of Rare Disease Registries. Int J Environ Res Public Health. 2018.15 (8) PMID:30081484

Best, AF, Hilbert, JE, Wood, L, Martens, WB, Nikolenko, N, Marini-Bettolo, C et al.. Survival patterns and cancer determinants in families with myotonic dystrophy type 1. Eur. J. Neurol. 2019.26 (1)58-65 PMID:30051542

Pogoryelova, O, González Coraspe, JA, Nikolenko, N, Lochmüller, H, Roos, A. GNE myopathy: from clinics and genetics to pathology and research strategies. Orphanet J Rare Dis. 2018.13 (1)70 PMID:29720219

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

Jiménez-Moreno, AC, Raaphorst, J, Babačić, H, Wood, L, van Engelen, B, Lochmüller, H et al.. Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey. Neuromuscul. Disord. 2018.28 (3)229-235 PMID:29361394

Pogoryelova, O, Cammish, P, Mansbach, H, Argov, Z, Nishino, I, Skrinar, A et al.. Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion. Neuromuscul. Disord. 2018.28 (2)158-168 PMID:29305133

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