Massive down syndrome study aims to unlock health secrets

NCT ID NCT07625579

Knowledge-focused Sponsor: RTI International Source: ClinicalTrials.gov ↗

First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This long-term study will follow up to 1,400 people with Down syndrome of all ages to better understand their health, development, and daily experiences. Participants and their caregivers will answer questions, share medical records, and may provide blood or saliva samples. Some may also take part in optional activities like sleep studies or brain imaging. The goal is to learn why certain health conditions are more common in Down syndrome and how to improve care.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to: If successful, this study could reveal why certain health conditions are more common in Down syndrome and point to ways to improve care and quality of life.
What could go wrong: This is an observational study, not a treatment trial. It may take years to produce actionable results, and findings may not apply to everyone with Down syndrome.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 1,400 people

The number the study aims to enrol. It can still change while the study runs.

Started

May 2026

Expected to finish

Aug 2029

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

The CDP is enrolling individuals with Down syndrome of all ages and a small number of control participants without Down syndrome from a wide range of backgrounds, including variation in age, geographic location, and functional abilities. Included in enrollment for individuals with Down syndrome is a Support Person to assist in completion of some CDP activities.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Individual with Down syndrome To be considered potentially eligible for this CDP, a participant must meet the following criteria: * Diagnosis of Down syndrome (with the exception of control participants for the Subsample study on Imaging). We will be enrolling participants with all types of Down syndrome including standard Trisomy 21, mosaic Down syndrome, and translocations. * Primary language is English, Spanish, or Portuguese. Support Person * Able to attend in-person or remote visits. * Able to provide accurate information about the study participant's clinical outcomes and family history. * Primary language is English, Spanish, or Portuguese. Biological parent(s) biospecimen collection * Biological parent of the enrolled participant. * Willing to provide a biological sample. * Primary language is English, Spanish, or Portuguese. Imaging subsample study controls * A subset of controls will be enrolled to match a cohort of individuals who take part in the CDP Subsample Study on imaging. Healthy control infants must be born at greater than 36 weeks gestational age and must have at least one older sibling. The sibling criterion allows comparability for potential analyses combining control data from DS-CDP with analogous control data previously collected by IBIS for other neurodevelopmental studies. Exclusion Criteria: * A participant will also be excluded if a healthcare professional determines that CDP involvement poses a risk of mental and physical harm to the participant. Imaging subsample study exclusion criteria for individuals with Down syndrome and controls: * Known genetic conditions or syndromes with effects on neurobehavioral development (except for Down syndrome) such as Fragile X syndrome, Williams syndrome, or Prader-Willi syndrome. We may also exclude other syndromes such as Marfan's syndrome or Turner syndrome because of overall significant multisystem effects. * Birth weight \< 2,000 grams or gestational age \< 34 weeks (infants with Down syndrome infants) or \<37 weeks (control subjects) * Significant perinatal adversity, in utero neurotoxin exposure or maternal gestational diabetes requiring medication management * Significant medical conditions (unrelated to Down syndrome) affecting growth, development, cognition or sensory impairments. We will conduct a review of the medical history to identify major medical conditions that might be a reason for exclusion. * Neurological event like a stroke * Congenital infection associated with altered development (e.g., congenital rubella) * Significant infection affecting the brain after birth, like meningitis * In infants with Down syndrome, severe medical issues which may exert significant developmental effects beyond Down syndrome such as: * Cyanotic cardiac abnormalities (e.g., Tetralogy of Fallot) that affect overall oxygen levels * Frailty because of recovery from significant surgery or extended hospital stays * Contraindication for MRI * English not predominant home language * Family history of a first-degree relative with psychosis or bipolar disorder (controls only) * To be consistent with prior imaging studies from the infant brain imaging study, healthy controls will additionally be excluded for a family history of a first- or second-degree relative with ASD to also allow them to serve as a comparison group for elevated familial liability for ASD. Sleep subsample study exclusion criteria: * Participants under the age of 12 who are currently being treated for obstructive sleep apnea using a positive airway pressure (PAP) device. * For the WatchPAT device, participants must weigh more than 65 pounds. They cannot have a permanent pacemaker or sustained non-sinus cardiac arrhythmias.

Get updates

Get notified about this study

Vår säkerhetsrekommendation!

Genom att skicka in godkänner du våra Användarvillkor

Conditions

The condition(s) this trial relates to.

chromosomal disorder developmental disability Down syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Chromosome disorders Down syndrome Intellectual and developmental disabilities

How to take part

Only the study team decides who joins. These are the ways to reach them.

The places running it

16 sites. The list below names each one and where it is.
The official record

ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

Open the record ↗
A doctor treating you

A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

John Hopkins University
NOT_YET_RECRUITING

Baltimore, Maryland, 21287, United States
Kansas University Medical Center
NOT_YET_RECRUITING

Kansas City, Kansas, 66160, United States
St. Jude Children's Research Hospital
NOT_YET_RECRUITING

Memphis, Tennessee, 38105, United States
Texas Children's Hosptial/Baylor College of Medicine
NOT_YET_RECRUITING

Houston, Texas, 77030, United States
The Children's Hospital of Philadelphia
NOT_YET_RECRUITING

Philadelphia, Pennsylvania, 19104, United States
The Children's Hospital of Philadelphia
NOT_YET_RECRUITING

Philadelphia, Pennsylvania, 19104, United States
University of California Irvine
NOT_YET_RECRUITING

Orange, California, 92868, United States
University of Colorado Anschutz Medical Campus
NOT_YET_RECRUITING

Aurora, Colorado, 80045, United States
University of Miami
NOT_YET_RECRUITING

Miami, Florida, 33136, United States
University of Minnesota
NOT_YET_RECRUITING

Minneapolis, Minnesota, 55455, United States
University of North Carolina at Chapel Hill
NOT_YET_RECRUITING

Chapel Hill, North Carolina, 27599, United States
University of Pittsburgh
NOT_YET_RECRUITING

Pittsburgh, Pennsylvania, 15203, United States
University of Texas Health Science Center at San Antionio
NOT_YET_RECRUITING

San Antonio, Texas, 78207, United States
University of Washington
NOT_YET_RECRUITING

Seattle, Washington, 98195, United States
University of Wisconsin-Madison
RECRUITING

Madison, Wisconsin, 53705, United States
Washington University in St. Louis
NOT_YET_RECRUITING

St Louis, Missouri, 63108, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.