CompletedNot Applicable

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

United States45 participantsStarted 2015-10-19

Plain-language summary

This study plans to learn more about Down syndrome. The investigators think there is a different level of the AIRE gene in individuals with Down syndrome. The investigators think that the AIRE gene level can provide more insight about depressed immune cell function in individuals with Down syndrome. Patients are being asked to be in this research study because the investigators want to see if their blood contains more of less of the AIRE gene.

Who can participate

Age range22 Years

SexALL

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Inclusion criteria

✓. Age newborn up until the twenty-second birthday.
✓. 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.
✓. Confirmed trisomy 21.
✓. Followed by the Pulmonary Hypertension Program and Sie Center at The Children's Hospital.
✓. 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

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

What they're measuring

AIRE Gene expression in Macrophage Subpopulations

Timeframe: At the time of sample acquisition

Trial details

NCT IDNCT02421276

SponsorUniversity of Colorado, Denver

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2018-02

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