Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome

Plain-language summary

This study investigated how depressed expression of the AIRE gene relates to immune cell dysfunction and autoimmunity in people with Down syndrome. Samples were collected through blood draw (phlebotomy); individuals from newborn to 22 years with confirmed trisomy 21 and pulmonary arterial hypertension were assessed. It was conducted as a non-phase study and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Not Applicable

Status

Completed

Sponsor

University of Colorado, Denver

Intervention

Phlebotomy

Start date

10/19/2015

Estimated completion

2/1/2018

Countries

United States

Related genes

Locations

• Denver, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

1. Age newborn up until the twenty-second birthday.
2. Diagnosed with idiopathic or secondary pulmonary arterial hypertension as defined by a mean pulmonary artery pressure \> 25 mmHg at rest or \> 30 mmHg with exercise.
3. Confirmed trisomy 21.
4. Followed by the Pulmonary Hypertension Program and Sie Center at The Children's Hospital.
5. The investigator or co-investigator must obtain written informed consent and assent where applicable before any study procedure is performed or data is collected.

Exclusion Criteria:

1. Any person older than 22 years of age
2. Patients with sickle cell disease with Pulmonary Arterial Hypertension (PAH) as treatment is defined differently within this population.
3. In the opinion of the investigator, a patient who is unlikely to cooperate or complete the study for any reason.