A natural history study on infantile facioscapulohumeral muscular dystrophy
Completed
- Conditions
- FSHDLandouzy-Dejerine1002839610029317
- Registration Number
- NL-OMON42518
- Lead Sponsor
- niversitair Medisch Centrum Sint Radboud
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 40
Inclusion Criteria
- Patients aged 0-17 with genetically proven FSHD1 (mutation on chromosome 4q35, leading to a reduced number of less than 10 D4Z4 subunits) or FSHD2 (SMCHD1 gene mutation on chromosome 18)
- Patients aged 0-17 with a clinical suspicion of FSHD. The clinical suspicion is defined as: based on the opinion of the treating medical specialist (paediatricians or neurologists) or children with delayed motor development with clinical weakness of the facial or upper-arm muscle.
Exclusion Criteria
- Patients not able to visit the outpatient clinic at the Radboudumc
- If not genetically confirmed: clinical suspicion not confirmed by a specialized neuromuscular child neurologist.
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>The main study parameter will be the description of the phenotype of<br /><br>childhood-onset FSHD. Therefore we propose extensive qualitative and<br /><br>quantitative measurements specified by age and use a modified format of the<br /><br>International Classification of Functioning, Disability and Health criteria<br /><br>(ICF-Y). ICF is the WHO framework for measuring health and disability at both<br /><br>individual and population levels. The domaines are body structure, body<br /><br>function, activities and participation and environmental factors. </p><br>
- Secondary Outcome Measures
Name Time Method <p>Secondary outcome measures are:<br /><br>- Prevalance and incidence estimations of infantile FSHD<br /><br>- (epi)genetical changes<br /><br>- Disease modifying factors<br /><br>- extensive quantitative and qualitative genotype and fenotype<br /><br>characterisation.</p><br>