Inflammation in facioscapulohumeral muscular dystrophy
Completed
- Conditions
- muscular dystrophy10028302
- Registration Number
- NL-OMON43090
- Lead Sponsor
- Radboud Universitair Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 10
Inclusion Criteria
-18-65 year old
-Genetically confirmed FSHD1
Exclusion Criteria
-Age <18 or > 65 years old
-Diabetes mellitus
-Chronic obstructive pulmonary disease
-Current malignancy
-Previous treatment with chemotherapy and/or radiation therapy
-Use of corticosteroids during more than two weeks in the past 5 years
-Use of statins in the past year
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>We expect to better understand if and which role inflammation plays in the<br /><br>disease pathogenesis by evaluating the following outcomes: percentage and<br /><br>features of PBMC, cytokine profiling and autoantibodies inquiry both in FSHD1<br /><br>patients and in healthy controls. Moreover, disease severity of FSHD patients<br /><br>will be assessed using a clinical severity score (Ricci-score).</p><br>
- Secondary Outcome Measures
Name Time Method <p>not applicable </p><br>