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Neuromuscular Disorders Editorial Importance and Benefits of Patient Registries for Duchenne Muscular Dystrophy Olivia Schreiber-Katz Resident Physician, Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany Abstract Rare diseases represent a special challenge for the translation of new therapies into patient care. Duchenne muscular dystrophy (DMD) is a rare childhood-onset muscular dystrophy; curative treatment is not yet available. However, new therapies are emerging to fight this devastating disease. In order to establish an infrastructure to improve data harmonisation, knowledge on the disease, public awareness, industrial interest and trial readiness, patient registries are an indispensable resource. This article provides a short overview on their importance and benefits towards improving diagnosis and care. Keywords Duchenne muscular dystrophy (DMD), translation, patient registries, health care burden, health economics evaluation Disclosures: Olivia Schreiber-Katz is a member of the German Muscular Dystrophy Network (MD-NET; 01GM0887), funded by the German Ministry of Education and Research (BMBF, Bonn, Germany) from 2003 until 2013. MD-NET is a partner of TREAT-NMD (EC, 6th FP, proposal 036825; www.treat-nmd.eu). Technical setup of the German DMD patient registry was funded by the German patient organisations “aktion benni & co” and the “Deutsche Gesellschaft für Muskelkranke e.V.”, and health care evaluations were supported by the Friedrich-Baur-Stiftung, Burgkunstadt. No funding was received for the publication of this article. Open Access: This article is published under the Creative Commons Attribution Noncommercial License, which permits any non-commercial use, distribution, adaptation and reproduction provided the original author(s) and source are given appropriate credit. Received: 25 March 2015 Accepted: 9 April 2015 Citation: European Neurological Review, 2015;10(1):79–80 Correspondence: Olivia Schreiber-Katz, Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Ziemssenstrasse 1, 80336 Munich, Germany. E: olivia.schreiber-katz@med.lmu.de Duchenne muscular dystrophy (DMD) is the most common X-chromosomal inherited muscle disease in children. Nevertheless, having an estimated incidence of 1:5,000 male newborns, it is classified as a rare disorder. 1 DMD results in progressive muscle weakness and severe disability, cardiopulmonary comorbidity and reduced life expectancy. Affected boys are limited in their independency, private and public roles, education and professional lives. No curative treatment is yet available, but symptomatic and interdisciplinary medical care represent the most important components for improving the outcome and quality of life of these patients. 2,3 New curative therapies are under development, 4 but rare disorders present a peculiar challenge to the translational process from bench to bedside. Prerequisites for Translation Translation from bench to bedside – the invention of new therapies – covers the progress from preclinical research to human application and clinical trials, to market authorisation, and to implementation into standard patient care. During this process, rare neuromuscular diseases face some well-known bottlenecks: (a) lack of harmonisation, (b) lack of trial readiness, mainly resulting from (c) lack of suitable infrastructures facilitating the planning and realisation of clinical trials and (d) lack of professional, industry, political and wider public interest (as defined by patient organisations such as Association Francaise contre les myopathies [AFM], Deutsche Gesellschaft für Muskelkranke e.V. [DGM e.V.] and Eurordis). Consequently, multinational collaboration is essential to pool resources, and suitable infrastructures must be created. Trial readiness implies standardised and internationally harmonised patients registries, Tou ch MEd ica l MEdia aiming at recruiting a sufficient number of patients into clinical trials in a short time interval. To conduct state-of-the-art double-blind placebo-controlled trials (phase II/III), recruitment of 100–300 patients is mandatory to reach a sample size producing a reliable statistical outcome. 5 For enrolment into the trial, patients need to fulfil genetic and clinical inclusion criteria. Because DMD is a rare disorder, recruitment of a large number of patients with strict inclusion criteria is often tedious and time-consuming, if not impossible endeavour. In 2003 – well before the widespread implementation of DMD registries – it took Kirschner et al. 6 more than 3 years to enrol 150 ambulant DMD patients in an investigator-driven, multicentre trial in Germany. For industry- sponsored trials, a trial recruitment phase lasting more than 1  year is absolutely infeasible for economic reasons. So, a patient registry facilitating quick and efficient patient identification for enrolment may be a mandatory prerequisite for enabling clinical trials in DMD. How Can Patient Registries Support the Translational Process in Duchenne Muscular Dystrophy? Within the international network of excellence TREAT-NMD (funded by the EC 2007-2011), the implementation of internationally harmonised patient registries for DMD (and additional hereditary neuromuscular disorders) was highly supported. 7,8 Meanwhile, extensive international cooperation and networking resulted in more than 50 national DMD registries, all adapted to a harmonised data content and providing pseudonomised data for a global database. 9 Numerous clinical trials were by now facilitated by these registries. Additionally, these harmonised longitudinal data of several thousand DMD patients 79