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Natural History of Dysregulation and Aging of the Immune System in People With Trisomy 21 With and Without Thymectomy

Who can join

Ages 1 to 120 · All sexes · Healthy volunteers welcome

* INCLUSION CRITERIA:

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

1\. Aged \>=1 year.

2\. Willingness to allow storage of specimens and data for future research.

* Additional Inclusion Criteria for Affected Participants

  1. Documented T21 based on chromosomal karyotype test.
  2. Ability of participant or LAR to provide informed consent.
* Additional Inclusion Criteria for Unaffected Relatives

  1. Ability of participant to provide informed consent or, for individuals \<18 years of age, to provide informed assent as applicable.
  2. Reside in the same household as the corresponding affected participant.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

1\. Any condition that, in the judgment of the investigator, may put the participant at undue risk or make them unsuitable for participation in the study.

About the study

Background:

Down syndrome is a genetic disorder that can cause heart defects and other problems in the body. People with Down syndrome are more likely to have infections, autoimmunity, and blood diseases. Some may need surgery to treat congenital heart problems. During this surgery, doctors sometimes remove part of the thymus. The thymus is an organ that plays a role in immune function. People who have had part of their thymus removed may get sick more often than others do.

Objective:

This natural history study will gather data about how removing part of the thymus affects the health of people with Down syndrome.

Eligibility:

People aged 1 year and older with Down syndrome. The study will include both people who have, and those who have not had, surgery to remove part of their thymus. Healthy relatives are also needed.

Design:

Participants with Down syndrome will have clinic visits at least once a year for 15 years.

At each visit they will have a physical exam. They will give blood and stool samples. They will have tests of their heart and lung function.

Participants aged 18 years or older may have at least 1 imaging scan: They will lie on a table that slides into a donut-shaped machine. The machine uses X-rays to take pictures of the inside of the body.

Participants who have tissue samples collected from their bodies (biopsies) taken during the study may have extra tissue taken for research.

Healthy relatives will also have visits once a year for 15 years. They will only have a physical exam and provide blood and stool samples.

Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) · Participants: 700 · Started: Jun 23, 2026

Contact the study team

• Luigi D Notarangelo, M.D. · Phone: (301) 761-7550

Official record on ClinicalTrials.gov — NCT07416201

Locations in the U.S.

Conditions

• Down Syndrome

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.