lnflammation in facioscapulohumeral muscular dystrophy

Completed

• Conditions: muscular dystrofy; 10028302

• Registration Number: NL-OMON46560
• Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 15 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 30

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
- Current treatment with chemotherapy and/or radiation therapy
- Current use of corticosteroids
- Current use of statines

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 gene expression both in FSHD1 patients<br /><br>and in healthy controls. Moreover, disease severity of FSHD patients will be<br /><br>assessed using a clinical severity score (Ricci-score).</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Not applicable. </p><br>