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Recruiting NCT04001582

The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry

— Observational Facioscapulohumeral Muscular Dystrophy

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Patient Registry.
Who it may be relevant to
Registry conditions: Facioscapulohumeral Muscular Dystrophy. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United Kingdom
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

The UK Facioscapulohumeral Muscular Dystrophy Patient Registry

Overview

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

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.

Interventions

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

Primary outcome measures

  • Patient questionnaire [Time frame: 12 months]
  • McGill Pain Questionnaire [Time frame: 12 months]
  • FSHD Pain Questionnaire [Time frame: 12 months]
  • The Short Form Health Survey (SF-36) [Time frame: 12 months]
  • The Individualized Neuromuscular Quality of Life questionnaire (INQoL) [Time frame: 12 months]
  • Scapular fixation questionnaire [Time frame: 12 months]
  • Clinician questionnaire [Time frame: 12 months]

Eligibility criteria

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

United Kingdom · 1 center
  • John Walton Muscular Dystrophy Research Centre — Newcastle upon Tyne

Publications

  • 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. PMID 29053898
  • 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. PMID 30895627
  • 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. PMID 27159994

Identifiers

NCT: NCT04001582 · 18/NE/0288

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗