Facioscapulohumeral Muscular Dystrophy
Conditions
Keywords
FSHD, Facioscapulohumeral Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy Type 1, Facioscapulohumeral Muscular Dystrophy Type 2, Muscular Dystrophy
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.
Interventions
OTHERPatient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their condition.
Sponsors
Newcastle University
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
\- All patients with a confirmed FSHD diagnosis (or pending diagnosis) who reside in the UK are eligible for inclusion.
Exclusion criteria
* Any confirmed NMD other than FSHD * Living outside of the UK
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
| McGill Pain Questionnaire | 12 months | Patient reported current pain. |
| FSHD Pain Questionnaire | 12 months | Patient reported experience of pain. |
| The Short Form Health Survey (SF-36) | 12 months | Patient reported quality of life. |
| The Individualized Neuromuscular Quality of Life questionnaire (INQoL) | 12 months | Patient reported quality of life. |
| Scapular fixation questionnaire | 12 months | Patient reported experience of scapular fixation surgery. |
| Clinician questionnaire | 12 months | Clinician reported genetic confirmation of FSHD. |
Countries
United Kingdom
Contacts
CONTACTRegistry Project Manager and Curator
CONTACTRegistries Team
PRINCIPAL_INVESTIGATORChiara Marini-Bettolo, MD, PhD
John Walton Muscular Dystrophy Research Centre
Outcome results
None listed