The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry

Facioscapulohumeral Muscular Dystrophy Clinical Trial

Official title:

The UK Facioscapulohumeral Muscular Dystrophy Patient Registry

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04001582
• Other study ID #: 18/NE/0288
• Status: Recruiting
• Start date: May 2013
• Est. completion date: January 2030

Study information

• Verified date: November 2022
• Source: Newcastle University
• Contact: Registry Project Manager and Curator
• Phone: 0191 2418640
• Email: helen.walker2[@]newcastle.ac.uk
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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 aim is to facilitate a questionnaire based research study in order to better characterise and understand the disease in the UK. By maintaining a national registry this will help identify potential participants eligible for clinical trials in the future.

Description:

The UK FSHD Patient Registry (https://www.fshd-registry.org/uk/) aims to recruit any individual, from anywhere within the United Kingdom, with a diagnosis of FSHD who may be interested in becoming involved in future planned clinical trials. 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. 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 also available offline as well). This is an ongoing database and all participants will invited to update their information on an annual basis. The dataset is divided into two main sections: 1. Mandatory items (Demographic information, genetic test result, clinical diagnosis, motor function and wheelchair use) and 2. Highly encouraged items (Use of invasive and non-invasive ventilation, age of onset, retinal vascular disease, hearing loss, scapular fixation, pregnancy, family history, ethnic origin and other registry participation). 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 sought.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1018
• Est. completion date: January 2030
• Est. primary completion date: January 2030
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• All patients with a confirmed FSHD diagnosis (or pending diagnosis) are eligible for inclusion. Diagnosis will be confirmed via genetic testing results

Exclusion Criteria:

• There are no exclusion criteria for the registry

Related Conditions & MeSH terms

• Facioscapulohumeral Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Facioscapulohumeral

Intervention

Other:
• Patient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Locations

Country	Name	City	State
United Kingdom	John Walton Muscular Dystrophy Research Centre	Newcastle Upon Tyne

Sponsors (1)

Lead Sponsor	Collaborator
Newcastle University

Country where clinical trial is conducted

United Kingdom, 

References & Publications (3)

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, Lochmüller H. Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient regi — View Citation

Morís G, Wood L, FernáNdez-Torrón R, González Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmüller H, Evangelista T. Chronic pain has a strong impact on quality of life in — View Citation

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. — View Citation

Outcome

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

External Links

•   The UK FSHD Patient Registry website