The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry

NCT ID: NCT04001582

Last Updated: 2024-05-09

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

1018 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-05-31

Study Completion Date

2040-01-31

Brief Summary

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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

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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.

Conditions

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Facioscapulohumeral Muscular Dystrophy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

Patient Registry

Intervention Type OTHER

Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Interventions

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Patient Registry

Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Intervention Type OTHER

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Newcastle University

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Chiara Marini-Bettolo, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

John Walton Muscular Dystrophy Research Centre

Locations

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John Walton Muscular Dystrophy Research Centre

Newcastle upon Tyne, , United Kingdom

Site Status RECRUITING

Countries

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United Kingdom

Central Contacts

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Registry Project Manager and Curator

Role: CONTACT

0191 2418640

Registries Team

Role: CONTACT

Facility Contacts

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Registry Project Manager and Curator

Role: primary

0191 2418640

References

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Moris G, Wood L, FernaNdez-Torron R, Gonzalez Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmuller H, Evangelista T. Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2018 Mar;57(3):380-387. doi: 10.1002/mus.25991. Epub 2017 Nov 7.

Reference Type RESULT
PMID: 29053898 (View on PubMed)

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.

Reference Type RESULT
PMID: 30895627 (View on PubMed)

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, Lochmuller H. Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry. J Neurol. 2016 Jul;263(7):1401-8. doi: 10.1007/s00415-016-8132-1. Epub 2016 May 9.

Reference Type RESULT
PMID: 27159994 (View on PubMed)

Related Links

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https://www.fshd-registry.org/uk/

The UK FSHD Patient Registry website

Other Identifiers

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18/NE/0288

Identifier Type: -

Identifier Source: org_study_id

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