John Walton Muscular Dystrophy Research Centre
Newcastle upon Tyne, NE1 3BZ, United Kingdom
Location status: Recruiting
Location contact
Chiara Marini-Bettolo, MD, PhD
PRINCIPAL_INVESTIGATOR
Registry Project Manager and Curator
CONTACT
Recruiting
NCT Number: NCT04001582
The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry
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.
Recruiting
Interested in participating?
Request InfoKey information
Conditions
Facioscapulohumeral Muscular Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Muscular Diseases
Muscular Disorders, Atrophic
Muscular Dystrophies
Muscular Dystrophy, Facioscapulohumeral
Musculoskeletal Diseases
Nervous System Diseases
Neuromuscular Diseases
Sex eligibility
All sexes
Study type
Observational
Primary location
About this study
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.
Who can participate
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
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
Treatment and study plan
Patient Registry
OtherParticipants who have volunteered to participate will complete various questionnaires relating to their condition.
Primary outcomes
-
Patient questionnaire
Time frame: 12 months
Patient reported FSHD clinical diagnosis, symptoms relating to muscle weakness, motor function, ventilation, retinal vascular disease, hearing loss, scapular fixation, family history and ethnicity.
-
McGill Pain Questionnaire
Time frame: 12 months
Patient reported current pain.
-
FSHD Pain Questionnaire
Time frame: 12 months
Patient reported experience of pain.
-
The Short Form Health Survey (SF-36)
Time frame: 12 months
Patient reported quality of life.
-
The Individualized Neuromuscular Quality of Life questionnaire (INQoL)
Time frame: 12 months
Patient reported quality of life.
-
Scapular fixation questionnaire
Time frame: 12 months
Patient reported experience of scapular fixation surgery.
-
Clinician questionnaire
Time frame: 12 months
Clinician reported genetic confirmation of FSHD.
Study contacts
Contact information is provided by the study sponsor or research team.
Registries Team
CONTACT
Registry Project Manager and Curator
CONTACT
Sponsors and collaborators
Lead sponsor
Newcastle University
Other
Registry information
Official study title
The UK Facioscapulohumeral Muscular Dystrophy Patient Registry
Important dates
- Study start
- 2013
- Primary completion
- 2040
- Study completion
- 2040
- First posted
- Jun 28, 2019
- Registry last updated
- May 9, 2024
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
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