Collaboration for Down Syndrome Progress (CDP) (CDP)

The INCLUDE (INvestigation of Co-occurring Conditions Across the Lifespan to Understand Down Syndrome) Project's Collaboration for Down Syndrome Progress (CDP) Program

The Collaboration for Down Syndrome Progress (CDP) is a long-term study that follows people with Down syndrome of all ages. The goal is to better understand their health, development, and everyday experiences over time. Participants and their caregivers will answer questions, share medical information, and may give samples like blood or saliva. Some participants may also take part in optional activities such as sleep studies, movement tracking, or brain imaging. By collecting the same types of information at many sites, the CDP will help researchers learn why certain health conditions are more common in people with Down syndrome and how to improve care and quality of life.

Study Overview

• Status: Recruiting
• Conditions: Down Syndrome; Chromosome Disorders; Intellectual and Developmental Disabilities

Detailed Description

The Collaboration for Down Syndrome Progress (CDP) is a multisite, prospective longitudinal cohort designed to systematically characterize health, neurodevelopmental, neurobehavioral, and biological trajectories in individuals with Down syndrome across the lifespan. The CDP establishes a harmonized data collection framework implemented across U.S. and international clinical research sites to generate a large, integrated dataset suitable for cross-sectional and longitudinal analyses.

Participants undergo standardized assessments that include medical history, neurobehavioral evaluations, physical examinations, and review of electronic health records. Biospecimens-including blood, saliva, and tongue swabs-are collected to support genomic, transcriptomic, proteomic, metabolomic, and microbiome analyses. These samples are processed and stored within the Down Syndrome Biorepository for current and future research use.

The CDP also incorporates several optional subsample studies that provide deeper phenotyping in key domains relevant to co-occurring conditions in Down syndrome. These include home sleep apnea testing, wearable activity monitoring, neuroimaging using MRI, and metabolic and endocrine laboratory profiling. Each subsample follows additional standardized procedures to ensure comparability across sites.

All data generated through the CDP are curated and transferred to the NIH INCLUDE Data Hub, where they are made available in de identified form to qualified researchers. The resulting dataset is intended to advance understanding of co-occurring conditions, identify risk and resilience factors, and inform the development of evidence-based clinical practices and future therapeutic interventions for individuals with Down syndrome.

• Study Type: Observational
• Enrollment (Estimated): 1400

Contacts and Locations

• Study Contact: Name: Jessica E Hunter, PhD; Phone Number: 919 541 6000; Email: jehunter@rti.org

Study Locations

• United States
  • California
    • Orange, California, United States, 92868
      • Not yet recruiting
      • University of California Irvine
      • Contact: Christy L Hom, PhD; Phone Number: 714-456-5902
  • Colorado
    • Aurora, Colorado, United States, 80045
      • Not yet recruiting
      • University of Colorado Anschutz Medical Campus
      • Contact: Joaquin Espinosa, PhD; Phone Number: 303-724-7389
  • Florida
    • Miami, Florida, United States, 33136
      • Not yet recruiting
      • University of Miami
      • Contact: Ignacio Tapia, MD, MS; Phone Number: 305-243-6641; Email: itapia@miami.edu
  • Kansas
    • Kansas City, Kansas, United States, 66160
      • Not yet recruiting
      • Kansas University Medical Center
      • Contact: Lauren T Ptomey, PhD, RD, LD; Phone Number: 913-588-5000; Email: lptomey@kumc.edu
  • Maryland
    • Baltimore, Maryland, United States, 21287
      • Not yet recruiting
      • John Hopkins University
      • Contact: Sheela N Magge, MD, MSCE; Phone Number: 443-997-5437; Email: smagge3@jhmi.edu
  • Minnesota
    • Minneapolis, Minnesota, United States, 55455
      • Not yet recruiting
      • University of Minnesota
      • Contact: Jason Wolff, PhD; Phone Number: 612-625-4166; Email: jjwolff@umn.edu
  • Missouri
    • St Louis, Missouri, United States, 63108
      • Not yet recruiting
      • Washington University in St. Louis
      • Contact: Natasha Marrus, MD; Phone Number: 314-286-1700; Email: natasha@wustl.edu
  • North Carolina
    • Chapel Hill, North Carolina, United States, 27599
      • Not yet recruiting
      • University of North Carolina at Chapel Hill
      • Contact: Heather Hazlett, PhD; Phone Number: 919-966-4099; Email: cody@ad.unc.edu
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Not yet recruiting
      • The Children's Hospital of Philadelphia
      • Contact: Juhi Pandey, PhD; Phone Number: 215-590-7555; Email: pandeyj@chop.edu
    • Pittsburgh, Pennsylvania, United States, 15203
      • Not yet recruiting
      • University of Pittsburgh
      • Contact: Bejamin L Handen, PhD; Phone Number: 412-235-5445 Expertise; Email: handenbl@upmc.edu
  • Tennessee
    • Memphis, Tennessee, United States, 38105
      • Not yet recruiting
      • St. Jude Children's Research Hospital
      • Contact: Lisa Jacola, PhD, ABPP-CN; Phone Number: 901-595-5042; Email: Lisa.Jacola@STJUDE.org
  • Texas
    • Houston, Texas, United States, 77030
      • Not yet recruiting
      • Texas Children's Hosptial/Baylor College of Medicine
      • Contact: Mirjana Maletic-Savatic, MD, PhD; Phone Number: (832) 822-1700; Email: maletics@bcm.edu
    • San Antonio, Texas, United States, 78207
      • Not yet recruiting
      • University of Texas Health Science Center at San Antionio
      • Contact: Maria Rayas, MD; Phone Number: 210-358-5437; Email: rayas@uthscsa.edu
  • Washington
    • Seattle, Washington, United States, 98195
      • Not yet recruiting
      • University of Washington
      • Contact: Stephen Dager, MD; Phone Number: 877-408-UWAC; Email: srd@uw.edu
  • Wisconsin
    • Madison, Wisconsin, United States, 53705
      • Recruiting
      • University of Wisconsin-Madison
      • Contact: Sigan Hartley, PhD; Phone Number: 608.263.1656; Email: slhartley@wisc.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

CDP Down Syndrome Cohort; Individuals with Down syndrome enrolled in the CDP Common Protocol. Participants complete standardized questionnaires, neurobehavioral assessments, medical examinations, and biospecimen collection. Medical records are reviewed, and data are harmonized across all sites. A subset of CDP participants may participate in sleep studies, activity monitoring, imaging and metabolic/endocrine blood collection.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Enrollment of Participants into the DS-CDP Common Protocol	The primary aim of the DS-CDP is enrollment of up to 1,400 participants with Down syndrome across the lifespan into the Common Protocol to support future cross-sectional and longitudinal research	4 years

Collaborators and Investigators

• Sponsor: RTI International
• Collaborators: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); National Heart, Lung, and Blood Institute (NHLBI); National Institutes of Health (NIH); National Institute on Aging (NIA)
• Investigators: Principal Investigator: Jessica E Hunter, PhD, RTI International

Publications and helpful links

Helpful Links

• Related Info

Study record dates

Study Major Dates

• Study Start (Actual): May 1, 2026
• Primary Completion (Estimated): August 31, 2029
• Study Completion (Estimated): August 31, 2029

Study Registration Dates

• First Submitted: May 11, 2026
• First Submitted That Met QC Criteria: May 28, 2026
• First Posted (Actual): June 4, 2026

Study Record Updates

• Last Update Posted (Actual): June 4, 2026
• Last Update Submitted That Met QC Criteria: May 28, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: Down syndrome
• Additional Relevant MeSH Terms: Neurologic Manifestations; Nervous System Diseases; Mental Disorders; Genetic Diseases, Inborn; Neurobehavioral Manifestations; Congenital Abnormalities; Neurodevelopmental Disorders; Abnormalities, Multiple; Intellectual Disability; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Developmental Disabilities; Down Syndrome; Chromosome Disorders
• Other Study ID Numbers: DS-4C (36648); 1U54HL178351 (U.S. NIH Grant/Contract); 1U01HD116485 (U.S. NIH Grant/Contract); 1U01HD116470 (U.S. NIH Grant/Contract); 1U01HD116469 (U.S. NIH Grant/Contract); 1U01HD116477 (U.S. NIH Grant/Contract); 1U01HD116463 (U.S. NIH Grant/Contract); 1U24AG092191 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: IPD will be available to other researchers through the INCLUDE Data Hub.
• IPD Sharing Time Frame: Ongoing, throughout the duration of the program
• IPD Sharing Access Criteria: Through the INCLUDE Data HUB
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No