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Inflammation in facioscapulohumeral muscular dystrophy

Completed
Conditions
muscular dystrophy
10028302
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
NameTimeMethod
<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
NameTimeMethod
<p>not applicable </p><br>
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