An observational study in Facioscapulohumeral Muscular Dystrophy, sponsored by Newcastle University. Recruiting at 1 site in United Kingdom. Per ClinicalTrials.gov, last updated 2026-08-20.
Sponsored by Newcastle University · Observational
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.
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.
79 studies on the registry are indexed under Muscular Dystrophy, Facioscapulohumeral; 26 are open to participants now.
This study's planned enrollment of 1,018 is above the median of 87 across 30 observational studies indexed under Muscular Dystrophy, Facioscapulohumeral.
Browse Muscular Dystrophy, Facioscapulohumeral studies →Newcastle University is the lead sponsor of 60 studies on the registry; 15 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Participants with FSHD volunteer to participate in this study. The registry is advertised through neuromuscular disease clinics, the registry website, patient organisations and conferences and meetings throughout the UK.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
- All patients with a confirmed FSHD diagnosis (or pending diagnosis) who reside in the UK are eligible for inclusion.
Exclusion Criteria:
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.
Other: Patient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their condition.
Patient questionnaire
Patient reported FSHD clinical diagnosis, symptoms relating to muscle weakness, motor function, ventilation, retinal vascular disease, hearing loss, scapular fixation, family history and ethnicity.
Time frame: 12 months
McGill Pain Questionnaire
Patient reported current pain.
Time frame: 12 months
FSHD Pain Questionnaire
Patient reported experience of pain.
Time frame: 12 months
The Short Form Health Survey (SF-36)
Patient reported quality of life.
Time frame: 12 months
The Individualized Neuromuscular Quality of Life questionnaire (INQoL)
Patient reported quality of life.
Time frame: 12 months
Scapular fixation questionnaire
Patient reported experience of scapular fixation surgery.
Time frame: 12 months
Clinician questionnaire
Clinician reported genetic confirmation of FSHD.
Time frame: 12 months
Started May 2013 (actual). Primary completion is estimated for Jan 2040, 320 months after the start.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
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Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Muscular Dystrophy, Facioscapulohumeral →
Newcastle University