CHARGE syndrome
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Groningen
Eligibility
Age
2 Years to 17 Years
Inclusion criteria
Inclusion criteria: For patients: - Age above 20 months (after full immunization program) and below 18 years. - Proven CHARGE syndrome due to a CHD7 mutation. For controls: - Age above 20 months and below 18 years. - Sibling of a CHARGE patient as defined above.
Exclusion criteria
Exclusion criteria: For patients: - The use of steroids or other medication that can interfere with immunological or adrenal function. - Any signs of infection at time of tests For controls: - The use of steroids or other medication that can interfere with immunological or adrenal function. - ENT problems (under surveillance of an ENT specialist, adenoidectomy, tympanostomy tubes, otitis media with effusion) in the last two years. - Any signs of infection at time of tests
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The main study parameters are: - the absolute numbers of immunological cells and concentration of immunoglobulins; - functional T-cell response and specific antibody concentration; - the absolute numbers of T cell rearrangement excision circles (TRECs); - RNA profile of genes involved in the immunological pathways; and - the maximum level of cortisol in the low-dose ACTH test. The main study outcomes are: - the presence of immune dysfunction - the presence of central adrenal insufficiency | — |
Secondary
| Measure | Time frame |
|---|---|
| The secondary study parameters are: (1) clinical signs and symptoms of immune dysfunction based on a questionnaire and (2) type of CHD7 mutation. CHD7 mutations are classified as truncating (i.e. nonsense, frameshift, deletions, and genomic rearrangements) and non-truncating mutations (missense, splice site) and are known for the 40 study participants. | — |
Countries
Netherlands
Outcome results
None listed