National patient registries for myotonic dystrophy
There are a number of patient registries across the world that collect data on patients with myotonic dystrophy.
A workshop was held in 2009 to establish a core dataset that all registries should collect in order for their data to be comparable (see the links section on the left). As a result of this, an international registry that collates information from the national registries is currently in the process of being established and will go live in 2011. If you are a patient (or parent of a patient) with myotonic dystrophy and would like to register in a patient registry, you should do this via the registry in your country if one is available.
To quickly find your national registry, start typing your country name into the box below.
The Australian Myotonic Dystrophy (DM1) Registry has been developed to collate a patient's DM1 gene sequence and clinical information about their disease. The Registry provides an important enabling tool for clinicians and clinical trial sponsors to quickly identify patients suitable for each study, particularly those therapeutic strategies that target specific genetic defects.
Please contact Hugh Dawkins for further details.
The Bulgarian patient registry for Duchenne/Becker Musucular Dystrophy and Spinal Muscular Atrophy is located at University Hospital Alexandrovska, Clinic of Neurology in Sofia.
The Canadian Neuromuscular Disease Registry (CNDR) is a Canada-wide registry of people diagnosed with a neuromuscular disease. It collects important medical information from patients across the country to improve the understanding of neuromuscular disease and accelerate the development of new therapies.
The Czech patient registry Myotonic Dystrophy is located at the Masaryk University in Brno, where it was developed by the Institute of Biostatistics and Analyses.
The French Registry for Myotonic Dystrophy is a national initiative in France that specialists caring for myotonic dystrophy patients contribute to. It is purely based on professional report during clinical consultations.
As part of the international TREAT-NMD initiative, a national self-report and professional-report registry for all German DM (1 & 2) patients is being established in a collaboration between the expert neuromuscular clinical centres, MD-Net Germany and the Deutsche Gesellschaft für Muskelkranke.
The NZ Neuromuscular Disease Registry covers all neuromuscular conditions including Duchenne and Becker muscular dystrophies (DMD and BMD), spinal muscular atrophy (SMA), myotonic dystrophy (DM) and Charcot-Marie-Tooth disease (CMT).
The Polish Registry of Patients with Neuromuscular Diseases is created at the Department of Neurology, Medical University of Warsaw within the project „Clinical and genetic characteristics of neuromuscular diseases for future application of gene therapy”.
The Serbian patient registry for Myotonic dystrophy type 1 and 2 (DM1 and DM2) is under construction at the moment. The DM1 and DM2 registry is located at the Institute of Neurology, Medical Faculty, University of Belgrade and is going to be in form of professional report.
As part of the international TREAT-NMD initiative, a national registry for all UK DM1 patients has been established in collaboration between the expert clinical centres, the Muscular Dystrophy Campaign and the Myotonic Dystrophy Support Group.
The UK Myotonic Dystrophy Patient Registry is being run from Newcastle University by Prof Hanns Lochmüller. The primary goals of the Registry are to facilitate clinical research in Myotonic dystrophy and to allow clinicians and researchers to better understand the condition.
An information leaflet has been produced and can be downloaded here.
The Myotonic Dystrophy Family Registry
The Myotonic Dystrophy Family Registry is a web-based registry created specifically for individuals with myotonic dystrophy (DM1 and DM2). MDFR is unique in that it will not only help researchers find new, effective treatments and identify possible participants for upcoming clinical trials and research studies, but will also allow anyone who is registered to have access to the collected data (de-identified only), from academic and pharmaceutical researchers to individuals or families living with DM.
The National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy
This registry, which is funded by the US National Institutes of Health and based at the University of Rochester, has the primary goal of facilitating research in DM and FSHD by establishing a mechanism for contact between researchers and patients.