UK FSHD & DM Patient Registry Project Manager
- Email: firstname.lastname@example.org
- Telephone: 0191 241 8605
- Address: The John Walton Muscular Dystrophy Research Centre,
Institute of Genetic Medicine
International Centre for Life
Newcastle upon Tyne
I am responsible for managing, curating and coordinating the UK Facioscapulohumeral muscular dystrophy (FSHD) and Myotonic Dystrophy (DM) Online Patient Registries.
UK FSHD Patient Registry
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder in which the muscles of the face, shoulder blades and upper arms are among the most affected. Identifying enough people for a clinical trial can take years and this can delay the testing of potential new therapies. Registries allow people who may be eligible for certain trials to be contacted quickly and easily. Research in the laboratory has led to greater understanding of the genetic causes of FSHD, moving researchers towards the development of new therapies.
The UK FSHD registry is for all patients with a confirmed or pending diagnosis of Facioscapulohumeral dystrophy (FSHD1 and FSHD2). The registry collects clinical, genetic and demographic data about patients across the United Kingdom. The registry will provide a tool for clinical research. All of the information collected will be made available to selective researchers around the world to further advance understanding of and develop treatments for FSHD.
UK DM Patient Registry
The UK registry is for patients with Myotonic Dystrophy and collects genetic and clinical data about patients with Myotonic Dystrophy type 1. For research into treatments for Myotonic Dystrophy, it is important that the researchers have precise information about the genetic mutation that causes the condition. This information will be collected by the Registry and validated by experts. In anonymous form, the valuable medical data collected will be made available to selective researchers around the world, thereby accelerating the research into Myotonic Dystrophy type 1.
This registry is for patients living in the United Kingdom who are affected by Myotonic Dystrophy type 1 (DM1, Curschmann-Steinert). TREAT-NMD has already launched several other registries that are collecting data to prepare for trial readiness, such as the global registries for patients with Duchenne Muscular Dystrophy and Spinal Muscular Atrophy.
- Pogoryelova O, Cammish P, Skrinar A, Rao S, Lochmuller H, Kakis E. GNE myopathy worldwide epidemiology based on the patient self-reported registry. In: 20th International Congress of the The World Muscle Society. 2015, Brighton, UK: Elsevier.
- Pogoryelova O, Cammish P, Mansbach H, Argov Z, Nishino I, Skrinar A, Chan Y, Nafissi S, Shamshiri H, Kakkis E, Lochmuller H. 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. Neuromuscular Disorders 2018, epub ahead of print.