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

Hodgkinson, V, Lounsberry, J, M'Dahoma, S, Russell, A, Benstead, T, Brais, B et al.. The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Through a Nationwide, Pan-Neuromuscular Disease Registry. J Neuromuscul Dis. 2020. PMID:32925088

Hodgkinson, VL, Oskoui, M, Lounsberry, J, M'Dahoma, S, Butler, E, Campbell, C et al.. A National Spinal Muscular Atrophy Registry for Real-World Evidence. Can J Neurol Sci. 2020. 1-6 PMID:32493524

Murphy, LB, Schreiber-Katz, O, Rafferty, K, Robertson, A, Topf, A, Willis, TA et al.. Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. Ann Clin Transl Neurol. 2020.7 (5)757-766 PMID:32342672

Higgs, C, Hilbert, JE, Wood, L, Martens, WB, Marini-Bettolo, C, Nikolenko, N et al.. Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries. Front Neurol. 2019.10 1071 PMID:31681146

Wood, L, Bassez, G, Bleyenheuft, C, Campbell, C, Cossette, L, Jimenez-Moreno, AC et al.. Correction to: 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. 2019.14 (1)199 PMID:31416449

König, K, Pechmann, A, Thiele, S, Walter, MC, Schorling, D, Tassoni, A et al.. De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany. Orphanet J Rare Dis. 2019.14 (1)152 PMID:31234869

Ambrosini, A, Quinlivan, R, Sansone, VA, Meijer, I, Schrijvers, G, Tibben, A et al.. "Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease. Orphanet J Rare Dis. 2019.14 (1)126 PMID:31174585

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