The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry

Last updated: May 7, 2024
Sponsor: Newcastle University
Overall Status: Active - Recruiting

Phase

N/A

Condition

Muscular Dystrophy

Treatment

Patient Registry

Clinical Study ID

NCT04001582
18/NE/0288
  • All Genders

Study 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • All patients with a confirmed FSHD diagnosis (or pending diagnosis) who reside in the UKare eligible for inclusion.

Exclusion

Exclusion Criteria:

  • Any confirmed NMD other than FSHD
  • Living outside of the UK

Study Design

Total Participants: 1018
Treatment Group(s): 1
Primary Treatment: Patient Registry
Phase:
Study Start date:
May 01, 2013
Estimated Completion Date:
January 31, 2040

Study 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.

Connect with a study center

  • John Walton Muscular Dystrophy Research Centre

    Newcastle Upon Tyne, NE1 3BZ
    United Kingdom

    Active - Recruiting

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