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UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry
The UK FSHD Patient Registry aims to recruit any individual, from anywhere within the United Kingdom, with a diagnosis of fshd who may be interested in becoming involved in future planned clinical trials. Participants may be referred to the registry by health care professionals, genetic testing/laboratory centres who are aware of the registry. Alternatively, a participant may have discovered the registry via promotional activities or by their own online searches. After completing the consent process, participants are able to enter information on to the registry platform (note all forms are also available offline as well). This is an ongoing database and all participants will invited to update their information on an annual basis. The registry is sponsored by Muscular Dystrophy UK.
The dataset is divided into two main sections:
- Mandatory items (Demographic information, genetic test result, clinical diagnosis, motor function and wheelchair use) and
- Highly encouraged items (Use of invasive and non-invasive ventilation, age of onset, retinal vascular disease, hearing loss, scapular fixation, pregnancy, family history, ethnic origin and other registry participation).
The database is designed to be self reporting, however where specialised clinical or genetic information is required, the neuromuscular specialist in charge of the participants care can be invited to provide some additional information. The participant is able to select a health care provider from a pre-populated list at registration stage, if they wish to (optional feature). This information is included in the patient information and consent. Relevant R&D approval has been sought.