Facioscapulohumerale dystrofie FSHD Landouzy-Dejerine disease
Conditions
Interventions
None listed
Sponsors
Leids Universitair Medisch Centrum
Eligibility
Age
2 Years to 11 Years
Inclusion criteria
Inclusion criteria: • Able to give informed consent in writing, signed by the parent(s) or legal guardian. • Child
Exclusion criteria
Exclusion criteria: • Children suffering from (auto)immune*mediated inflammatory disorders. • Children with a positive family history of a skeletal muscle disorder. • Children of 3 years and older • Children who have had open heart surgery previously • Non-elective open heart surgery
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To detect germline and skeletal muscle DUX4 transcripts and DUX4 protein in thymic tissue of control individuals. | — |
Secondary
| Measure | Time frame |
|---|---|
| • To identify which cell types in the thymus express DUX4. • To determine the functional consequences of DUX4 expression in the thymus. • To study downstream targets of DUX4 or related neuromuscular proteins for their expression and function in the thymus. | — |
Countries
Netherlands
Outcome results
None listed