muscular dystrofy
Conditions
Interventions
None listed
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: -18-65 year old -Genetically confirmed FSHD1
Exclusion criteria
Exclusion criteria: - Age 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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| We expect to better understand if and which role inflammation plays in the disease pathogenesis by evaluating the following outcomes: percentage and features of PBMC, cytokine profiling and gene expression both in FSHD1 patients and in healthy controls. Moreover, disease severity of FSHD patients will be assessed using a clinical severity score (Ricci-score). | — |
Secondary
| Measure | Time frame |
|---|---|
| Not applicable. | — |
Countries
Netherlands
Outcome results
None listed