Information for professionals.
If you are a doctor who is not currently involved with the Registry but see patients with FSHD then we would encourage you to contact us to discuss how you can be involved.
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.
Additionally, with the advent of clinical trials and research studies for rare neuromuscular conditions, patients who might be eligible for certain clinical trials or research studies must be readily identifiable. This is what patient registries can offer: they contain accurate and up-to-date information about the patients’ genetic mutations and clinical conditions, as well as their contact details. Without a patient registry for rare conditions such as Myotonic Dystrophy, it could take years to find enough patients for a meaningful trial – and this could significantly delay the development of potential therapies.
In the UK FSHD Patient Registry this information is provided mostly by the patient. However professionals involved in the patient’s care is asked to provide additional details after full consent is obtained by the patient.