The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry

Study Overview
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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 aim is to facilitate a questionnaire based research study in order to better characterise and understand the disease in the UK. By maintaining a national registry this will help identify potential participants eligible for clinical trials in the future.

Detailed Description
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The UK FSHD Patient Registry (https://www.fshd-registry.org/uk/) aims to recruit any individual, from anywhere within the United Kingdom, with a diagnosis of FSHD who may be interested in becoming involved in future planned clinical trials. 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. 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 also available offline as well). This is an ongoing database and all participants will invited to update their information on an annual basis. The dataset is divided into two main sections: Mandatory items (Demographic information, genetic test result, clinical diagnosis, motor function and wheelchair use) and Highly encouraged items (Use of invasive and non-invasive ventilation, age of onset, retinal vascular disease, hearing loss, scapular fixation, pregnancy, family history, ethnic origin and other registry participation). 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 sought.

Official Title
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The UK Facioscapulohumeral Muscular Dystrophy Patient Registry

Conditions
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Facioscapulohumeral Muscular Dystrophy

Intervention / Treatment
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* Other: Patient Registry


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: All patients with a confirmed FSHD diagnosis (or pending diagnosis) are eligible for inclusion. Diagnosis will be confirmed via genetic testing results Exclusion Criteria: There are no exclusion criteria for the registry
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Participants with FSHD<br> | Other: Patient Registry<br>* Participants who have volunteered to participate will complete various questionnaires relating to their condition.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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FSHD, Facioscapulohumeral Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy Type 1, Facioscapulohumeral Muscular Dystrophy Type 2, Muscular Dystrophy