The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry

Newcastle University

Status: Enrolling

Conditions: Facioscapulohumeral Muscular Dystrophy

Treatments: Other: Patient Registry

Study type: Observational

Funder types: Other

Identifiers

NCT04001582

18/NE/0288

Details and patient eligibility

About

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.

Full 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.

Enrollment: 1,018 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

1,018 participants in 1 patient group

Participants with FSHD

Description:

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.

Treatment:

Other: Patient Registry