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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Participants with FSHD | 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Patient Registry | Other | Participants who have volunteered to participate will complete various questionnaires relating to their condition. |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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. | 12 months |
| McGill Pain Questionnaire | Patient reported current pain. | 12 months |
| FSHD Pain Questionnaire | Patient reported experience of pain. | 12 months |
| The Short Form Health Survey (SF-36) | Patient reported quality of life. | 12 months |
| The Individualized Neuromuscular Quality of Life questionnaire (INQoL) | Patient reported quality of life. | 12 months |
| Scapular fixation questionnaire | Patient reported experience of scapular fixation surgery. | 12 months |
| Clinician questionnaire | Clinician reported genetic confirmation of FSHD. | 12 months |
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Inclusion Criteria:
- All patients with a confirmed FSHD diagnosis (or pending diagnosis) who reside in the UK are eligible for inclusion.
Exclusion Criteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Registry Project Manager and Curator | Contact | 0191 2418640 | helen.walker2@newcastle.ac.uk | |
| Registries Team | Contact | registries@ncl.ac.uk |
| Name | Affiliation | Role |
|---|---|---|
| Chiara Marini-Bettolo, MD, PhD | John Walton Muscular Dystrophy Research Centre | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| John Walton Muscular Dystrophy Research Centre | Recruiting | Newcastle upon Tyne | NE1 3BZ | United Kingdom |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 29053898 | Result | Moris G, Wood L, FernaNdez-Torron R, Gonzalez Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmuller H, Evangelista T. Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2018 Mar;57(3):380-387. doi: 10.1002/mus.25991. Epub 2017 Nov 7. | |
| 30895627 |
| Label | URL |
|---|---|
| The UK FSHD Patient Registry website | View source |
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| ID | Term |
|---|---|
| D020391 | Muscular Dystrophy, Facioscapulohumeral |
| D009136 | Muscular Dystrophies |
| ID | Term |
|---|---|
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
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| Result |
| Ricci G, Cammish P, Siciliano G, Tupler R, Lochmuller H, Evangelista T. Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy. Muscle Nerve. 2019 Jun;59(6):711-713. doi: 10.1002/mus.26474. Epub 2019 Apr 4. |
| 27159994 | Result | Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmuller H. Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry. J Neurol. 2016 Jul;263(7):1401-8. doi: 10.1007/s00415-016-8132-1. Epub 2016 May 9. |
| D009422 | Nervous System Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |