The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry
- Conditions
- Facioscapulohumeral Muscular Dystrophy
- Interventions
- Other: Patient Registry
- Registration Number
- NCT04001582
- Lead Sponsor
- Newcastle University
- Brief Summary
Facioscapulohumeral Dystrophy (FSHD) is the third most common form of neuromuscular dystrophy worldwide with an estimated prevalence of one in 20,000. FSHD is an autosomal dominant genetic disease and is estimated to affect up to 3,000 people in the UK.
The patient registry facilitates a questionnaire based research study to better characterise and understand the disease in the UK, and helps to identify potential participants eligible for clinical trials.
- Detailed Description
The UK FSHD Patient Registry (https://www.fshd-registry.org/uk/) recruits any individual, from anywhere within the United Kingdom, with a diagnosis of FSHD. The registry is sponsored by Muscular Dystrophy UK. Participants may be referred to the registry by health care professionals, genetic testing/laboratory centres who are aware of the registry etc. 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 available to view on the registry website before joining the registry). This is an ongoing database and all participants are invited to update their information on an annual basis.
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 recieved.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 1018
- All patients with a confirmed FSHD diagnosis (or pending diagnosis) who reside in the UK are eligible for inclusion.
- Any confirmed NMD other than FSHD
- Living outside of the UK
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Participants with FSHD Patient Registry Patients with a confirmed or pending diagnosis of FSHD, living in the UK are eligible to join the registry. Parents/guardians can register a child under 16 years old.
- Primary Outcome Measures
Name Time Method FSHD Pain Questionnaire 12 months Patient reported experience of pain.
Scapular fixation questionnaire 12 months Patient reported experience of scapular fixation surgery.
The Individualized Neuromuscular Quality of Life questionnaire (INQoL) 12 months Patient reported quality of life.
Clinician questionnaire 12 months Clinician reported genetic confirmation of FSHD.
Patient questionnaire 12 months Patient reported FSHD clinical diagnosis, symptoms relating to muscle weakness, motor function, ventilation, retinal vascular disease, hearing loss, scapular fixation, family history and ethnicity.
The Short Form Health Survey (SF-36) 12 months Patient reported quality of life.
McGill Pain Questionnaire 12 months Patient reported current pain.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
John Walton Muscular Dystrophy Research Centre
🇬🇧Newcastle Upon Tyne, United Kingdom