Chromosome Disorders, Down Syndrome, Intellectual and Developmental Disabilities
Conditions
Keywords
Down syndrome
Brief summary
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.
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.
Interventions
None listed
Sponsors
RTI International
National Institutes of Health (NIH)
National Heart, Lung, and Blood Institute (NHLBI)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Institute on Aging (NIA)
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Enrollment of Participants into the DS-CDP Common Protocol | 4 years | 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 |
Countries
United States
Contacts
CONTACTJessica E Hunter, PhD
PRINCIPAL_INVESTIGATORJessica E Hunter, PhD
RTI International
Outcome results
None listed