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

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
Study ID
NCT07416201
Status
Recruiting
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Conditions

  • Down Syndrome

Eligibility Criteria

Sex
ALL
Age
1 Year - 120 Years
Healthy Volunteers
Accepted

Study Details

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.

Key Dates

Start date
Jun 16, 2026
Status verified
Mar 2026
Primary completion
May 1, 2040
Completion
Nov 1, 2040

Study Design

Enrollment
700 participants (estimated)

Arms

  • Arm: Trisomy 21 Participants
    Participants aged \>=1 year old who have T21
  • Arm: Unaffected Relative Participants
    Participants aged \>=1 year old who are related to a participant with T21

Primary Outcome Measure

Frequency of T21 individuals with laboratory evidence of autoantibodies [ Time Frame: Through end of study ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
NIH Clinical Center Office of Patient Recruitment (OPR)
[email protected]
800-411-1222
Luigi Notarangelo, M.D.
[email protected]
(301) 761-7550

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