The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry

May 7, 2024 updated by: Newcastle University

The UK Facioscapulohumeral Muscular Dystrophy Patient Registry

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Estimated)

1018

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United Kingdom
      • Newcastle Upon Tyne, United Kingdom, NE1 3BZ
        • Recruiting
        • John Walton Muscular Dystrophy Research Centre
        • Contact:
        • Principal Investigator:
          • Chiara Marini-Bettolo, MD, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

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.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
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.
Other: Patient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their condition.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Patient questionnaire
Time Frame: 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.
12 months
McGill Pain Questionnaire
Time Frame: 12 months
Patient reported current pain.
12 months
FSHD Pain Questionnaire
Time Frame: 12 months
Patient reported experience of pain.
12 months
The Short Form Health Survey (SF-36)
Time Frame: 12 months
Patient reported quality of life.
12 months
The Individualized Neuromuscular Quality of Life questionnaire (INQoL)
Time Frame: 12 months
Patient reported quality of life.
12 months
Scapular fixation questionnaire
Time Frame: 12 months
Patient reported experience of scapular fixation surgery.
12 months
Clinician questionnaire
Time Frame: 12 months
Clinician reported genetic confirmation of FSHD.
12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Newcastle University

Investigators

  • Principal Investigator: Chiara Marini-Bettolo, MD, PhD, John Walton Muscular Dystrophy Research Centre

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 1, 2013

Primary Completion (Estimated)

January 1, 2040

Study Completion (Estimated)

January 1, 2040

Study Registration Dates

First Submitted

June 25, 2019

First Submitted That Met QC Criteria

June 27, 2019

First Posted (Actual)

June 28, 2019

Study Record Updates

Last Update Posted (Actual)

May 9, 2024

Last Update Submitted That Met QC Criteria

May 7, 2024

Last Verified

May 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 18/NE/0288

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Facioscapulohumeral Muscular Dystrophy

Clinical Trials on Patient Registry

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Myanmar

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe