Inflammation in facioscapulohumeral muscular dystrophy: from patient to molecules

Completed

Conditions: muscular dystrophy
10028302

Registration Number: NL-OMON48999

Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 115

Inclusion Criteria

- > 18 year old
- Genetically confirmed FSHD
- unrelated
- with symptomatic lower limb weakness

Exclusion Criteria

- Age <18
- Diabetes mellitus
- Chronic obstructive pulmonary disease
- Current malignancy
- Current use of corticosteroids
- Current use of statines
- Contra-indications for MRI-scan or muscle biopsy

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Main outcomes will be: evaluation of inflammation in muscles using MRI;<br /><br>differential immunohistological characterization of muscle biopsies between<br /><br>patients and controls; difference in genomic expression profiling and cytokine<br /><br>profiling on blood cells and muscle tissue between patients and controls.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Secondary objectives are:<br /><br><br /><br>1) Assess FSHD Severity Score<br /><br>2) Evaluates muscle weakness degree by MRC grading.<br /><br>3) Compare the diagnostic quality of MRI and 3D ultrasound images in order to<br /><br>develop future 3D US guided biopsies.<br /><br>4) Compare the 3D ultrasound images of patients with already acquired 3D US of<br /><br>healthy volunteers in order to understand possible factor contributing to<br /><br>muscle weakness in FSHD.</p><br>