Does a deregulated PI3K/Akt-pathway affect the immune system in children with Down syndrome?

Completed

• Conditions: Activated PI3K/Akt-pathway; immunophenotype; 10027665

• Registration Number: NL-OMON46498
• Lead Sponsor: HagaZiekenhuis

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 15 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 42

Inclusion Criteria

- Age 1 month-18 years;
- For subjects with Down syndrome: diagnosis by chromosomal analysis;
- For healthy age-matched controls: undergoing a minor surgical procedure;
- Weight >5 kg;
- Informed consent from parent(s)/caregiver(s) with legal custody and/or the subject (according to the WGBO).

Exclusion Criteria

A potential subject who meets any of the following criteria will be excluded from participation in this study:
- Any active infectious disease (viral or bacterial), excluding mild upper respiratory tract infections without fever;
- Any type of malignancies, including lymphoproliferative disease (except of squamous or basal cell carcinoma of the skin that has been treated with no evidence of recurrence);
- Mosaic Down Syndrome;
- Current treatment with prophylactic antibiotics, monoclonal antibodies or immunosuppressant*s;
- Auto-immune diseases other than those associated with Down Syndrome;
- For healthy individuals: known with recurrent respiratory tract infections (RRTIs) and/or getting ear, nose or throat (ENT) surgery because of this reason.

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Deregulated AKT phosphorylation assays in both groups. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>B- and T-cell subset abnormalities, rate of apoptosis, exhaustion present in<br /><br>lymphocytes and immunoglobulines.</p><br>