Immunological and adrenal function in children with CHARGE syndrome
Completed
- Conditions
- CHARGE syndrome100836241000135310021460
- Registration Number
- NL-OMON38436
- Lead Sponsor
- niversitair Medisch Centrum Groningen
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 60
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
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
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>The main study parameters are:<br /><br>- the absolute numbers of immunological cells and concentration of<br /><br>immunoglobulins;<br /><br>- functional T-cell response and specific antibody concentration;<br /><br>- the absolute numbers of T cell rearrangement excision circles (TRECs);<br /><br>- RNA profile of genes involved in the immunological pathways; and<br /><br>- the maximum level of cortisol in the low-dose ACTH test.<br /><br><br /><br>The main study outcomes are:<br /><br>- the presence of immune dysfunction<br /><br>- the presence of central adrenal insufficiency</p><br>
- Secondary Outcome Measures
Name Time Method <p>The secondary study parameters are:<br /><br>(1) clinical signs and symptoms of immune dysfunction based on a questionnaire<br /><br>and<br /><br>(2) type of CHD7 mutation. CHD7 mutations are classified as truncating (i.e.<br /><br>nonsense, frameshift, deletions, and genomic rearrangements) and non-truncating<br /><br>mutations (missense, splice site) and are known for the 40 study participants.</p><br>