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

NCT02421276 | Completed DMC

• 1 other identifier: 14-2300
• Study Type: interventional
• Target: 45
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Down Syndrome; Polyendocrinopathies, Autoimmune; Respiratory Tract Infections; Autoimmunity

Outcome Measures

Primary Outcomes (1)

• AIRE Gene expression in Macrophage Subpopulations

  Peripheral blood draw

  At the time of sample acquisition

Secondary Outcomes (1)

• White blood cell Subpopulation Numbers

  At the time of sample acquisition

Study Arms (2)

Persons without Down syndrome

OTHER

White blood cell analysis from persons without Down syndrome assessed by absence of trisomy 21.

Other: Phlebotomy

Persons with Down syndrome

OTHER

White blood cell analysis from persons with Down syndrome assessed by presence of trisomy 21.

Other: Phlebotomy

Interventions

Phlebotomy OTHER

White blood cell analysis: Subtypes of white blood cells will be counted by flow cytometry

Persons with Down syndrome; Persons without Down syndrome

Eligibility Criteria

• Age: Up to 22 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Colorado, Denver: lead

Study Sites (1)

University of Colorado, Denver

Denver, Colorado, 80045, United States

Location

MeSH Terms

Conditions

Down Syndrome; Polyendocrinopathies, Autoimmune; Respiratory Tract Infections; Autoimmune Diseases

Interventions

Phlebotomy

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Endocrine System Diseases; Immune System Diseases; Infections; Respiratory Tract Diseases

Intervention Hierarchy (Ancestors)

Blood Specimen Collection; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Therapeutics; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Michael E Yeager, Ph.D.

  University of Colorado, Denver

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 15, 2015
• First Posted: April 20, 2015
• Study Start: October 19, 2015
• Primary Completion: February 1, 2018
• Study Completion: February 1, 2018
• Last Updated: April 19, 2022

Record last verified: 2022-04

Locations

US (1)