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

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

Ricci, G, Cammish, P, Siciliano, G, Tupler, R, Lochmuller, H, Evangelista, T et al.. Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy. Muscle Nerve. 2019.59 (6)711-713 PMID:30895627

Pogoryelova, O, Wilson, IJ, Mansbach, H, Argov, Z, Nishino, I, Lochmüller, H et al.. GNE genotype explains 20% of phenotypic variability in GNE myopathy. Neurol Genet. 2019.5 (1)e308 PMID:30842975

Lochmüller, H, Ambrosini, A, van Engelen, B, Hansson, M, Tibben, A, Breukel, A et al.. The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018. J Neuromuscul Dis. .6 (1)161-172 PMID:30714970

Pechmann, A, König, K, Bernert, G, Schachtrup, K, Schara, U, Schorling, D et al.. SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy. Orphanet J Rare Dis. 2019.14 (1)18 PMID:30665421

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