NCT04001582

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,018

participants targeted

Target at P75+ for all trials

Timeline
167mo left

Started May 2013

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress49%
May 2013Jan 2040

Study Start

First participant enrolled

May 1, 2013

Completed
6.2 years until next milestone

First Submitted

Initial submission to the registry

June 25, 2019

Completed
3 days until next milestone

First Posted

Study publicly available on registry

June 28, 2019

Completed
20.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2040

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2040

Last Updated

May 9, 2024

Status Verified

May 1, 2024

Enrollment Period

26.7 years

First QC Date

June 25, 2019

Last Update Submit

May 7, 2024

Conditions

Facioscapulohumeral Muscular Dystrophy

Keywords

FSHDFacioscapulohumeral Muscular DystrophyFacioscapulohumeral Muscular Dystrophy Type 1Facioscapulohumeral Muscular Dystrophy Type 2Muscular Dystrophy

Outcome Measures

Primary Outcomes (7)

  • 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

  • McGill Pain Questionnaire

    Patient reported current pain.

    12 months

  • FSHD Pain Questionnaire

    Patient reported experience of pain.

    12 months

  • The Short Form Health Survey (SF-36)

    Patient reported quality of life.

    12 months

  • The Individualized Neuromuscular Quality of Life questionnaire (INQoL)

    Patient reported quality of life.

    12 months

  • Scapular fixation questionnaire

    Patient reported experience of scapular fixation surgery.

    12 months

  • Clinician questionnaire

    Clinician reported genetic confirmation of FSHD.

    12 months

Study Arms (1)

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

Interventions

Patient RegistryOTHER

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

Participants with FSHD

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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.

You may not qualify if:

  • Any confirmed NMD other than FSHD
  • Living outside of the UK

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

John Walton Muscular Dystrophy Research Centre

Newcastle upon Tyne, NE1 3BZ, United Kingdom

RECRUITING

Related Publications (3)

  • 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: 29053898RESULT

  • 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: 30895627RESULT

  • 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: 27159994RESULT

Related Links

MeSH Terms

Conditions

Muscular Dystrophy, FacioscapulohumeralMuscular Dystrophies

Condition Hierarchy (Ancestors)

Muscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Chiara Marini-Bettolo, MD, PhD

    John Walton Muscular Dystrophy Research Centre

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Registry Project Manager and Curator

CONTACT

0191 2418640helen.walker2@newcastle.ac.uk

Registries Team

CONTACT

registries@ncl.ac.uk

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
99 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 25, 2019

First Posted

June 28, 2019

Study Start

May 1, 2013

Primary Completion (Estimated)

January 1, 2040

Study Completion (Estimated)

January 1, 2040

Last Updated

May 9, 2024

Record last verified: 2024-05

Locations

GB(1)