FSHD-FOCUS: Facioscapulohumeral muscular dystrophy; (epi)genetic and environmental factors influencing disease severity
Recruiting
- Conditions
- FSHD (facioscapulohumeral muscular dystrophy)Landouzy Dejerine disease1002839610028302
- Registration Number
- NL-OMON41011
- Lead Sponsor
- niversitair Medisch Centrum Sint Radboud
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 200
Inclusion Criteria
1. All FSHD patients of 18 years and older with
- genetically proven FSHD or;
- clinical FSHD diagnosis and who give permission for genetic testing to confirm the diagnosis
2. Family members of FSHD patients without symptoms of FSHD who give permission for genetic testing for FSHD; i.e.non-penetrant FSHD patients
Exclusion Criteria
Incapacitated persons
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>Primary outcomes will be (epi)genetic differences between asymptomatic, mild<br /><br>and severely affected patients assessed by genomic expression profiling. Also,<br /><br>outcomes on questionnaires on environmental factors will be compared for<br /><br>different disease severities. Disease severity will be assessed using a<br /><br>clinical severity score (Ricci-score).</p><br>
- Secondary Outcome Measures
Name Time Method <p>Secondary outcomes are degree of muscle weakness using MRC-gradation, motor<br /><br>function measure, assessment of facial weakness, forced vital capacity using<br /><br>spirometry and 6-minute walk test. Other secondary outcomes are scores on the<br /><br>following questionnaires: FSHD history, SIP68, FAI, McGill pain questionnaire,<br /><br>CIS-fatigue, questionnaire on falling. Furthermore, we assess the fat fraction<br /><br>and inflammation in muscles of the leg using MRI-scans. </p><br>