Clinical trial NCT04001582: The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry
Official title: The UK Facioscapulohumeral Muscular Dystrophy Patient Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Facioscapulohumeral Muscular Dystrophy
Keywords: FSHD
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy Type 1
Facioscapulohumeral Muscular Dystrophy Type 2
Muscular Dystrophy
Lead sponsor: Newcastle University
Sponsor class: OTHER
First posted: 2019-06-28
Enrollment: 1018
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

Brief 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.

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.

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

Primary outcomes:
measure: Patient questionnaire
timeFrame: 12 months
measure: McGill Pain Questionnaire
timeFrame: 12 months
measure: FSHD Pain Questionnaire
timeFrame: 12 months
measure: The Short Form Health Survey (SF-36)
timeFrame: 12 months
measure: The Individualized Neuromuscular Quality of Life questionnaire (INQoL)
timeFrame: 12 months
measure: Scapular fixation questionnaire
timeFrame: 12 months
measure: Clinician questionnaire
timeFrame: 12 months
Secondary outcomes:
Other outcomes:
Locations:
city: Newcastle Upon Tyne
country: United Kingdom
facility: John Walton Muscular Dystrophy Research Centre
Study officials:
affiliation: John Walton Muscular Dystrophy Research Centre
name: Chiara Marini-Bettolo, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
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.
citation: 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.