The National Institutes of Health (NIH) recently launched a new long-term study to observe and track health data of people with Down syndrome from birth to adulthood. The initiative is led by NIH’s INCLUDE Project and is called the Down Syndrome Cohort Development Program (DS-CDP), which aims to engage and enroll thousands of individuals with Down syndrome, including those who have been historically underrepresented in Down syndrome research.
“The goal of the new program is to deepen our understanding of Down syndrome, accelerate knowledge of health conditions that more commonly affect those with Down syndrome, and ultimately improve the quality of life for individuals and their families,” said Diana W. Bianchi, M.D., INCLUDE Co-Chair and Director of NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development.
Participants will share biological samples, health information, and other data, which will be made anonymous and available to those in the research community. DS-CDP aims to provide representative, meaningful, and timely data to investigators and the entire Down syndrome community while ensuring participant privacy.
“NIH is committed to keeping the Down syndrome community at the heart of this inclusive research program,” said Gary H. Gibbons, M.D., INCLUDE Co-Chair and Director of NIH’s National Heart, Lung, and Blood Institute. “NIH invites the community, including families, self-advocates, scientists, clinicians, and other invested partners, to participate in future requests for information and listening sessions.”
Recruitment for the study is expected to begin in the latter half of 2025, with the program expanding to include new study sites over the next five to ten years.
“In line with the broader goals of the INCLUDE Project, the new data will not only advance science and health for people with Down syndrome but also for the general population,” said Richard J. Hodes, M.D., INCLUDE Co-Chair and Director of NIH’s National Institute on Aging. “People with Down syndrome are at higher risk for conditions that are also common in the general population, such as Alzheimer’s disease. Therefore, advances resulting from INCLUDE will benefit the Down syndrome community and moreover, provide insights that are important in broader populations.”
The program will be coordinated by the Down Syndrome Clinical Cohort Coordinating Center (DS-4C), at Research Triangle Institute in North Carolina, in partnership with NIH. DS-4C will oversee the overall coordination of the study, including participant engagement, program organization, and data management. A newly established DS-Biorepository at the University of Colorado Denver will store and distribute all biological samples.
The Down Syndrome Cohort Research Sites (DS-CRS) will handle planning, recruitment, and data collection. Each DS-CRS award includes three to five additional sites plus community partners who will be part of the recruitment effort. The sites are as follows:
- Baylor College of Medicine, Principal Investigator Philip Lupo
- Children's Hospital of Philadelphia, Principal Investigator Andrea Kelly
- University of Colorado Denver, Principal Investigator Joaquin M. Espinosa
- University of Wisconsin-Madison, Principal Investigator Sigan L. Hartley
- Washington University at St. Louis, Principal Investigator Natasha Marrus
This initiative will leverage the INCLUDE Project's existing investment in the INCLUDE Data Coordinating Center 
where data will be curated, standardized, and harmonized according to FAIR (Findable, Accessible, Interoperable, and Reusable) principles and shared through the cloud-based INCLUDE Data Hub .
“This initiative marks a significant step forward in collaboration among several NIH institutes, academic and medical institutions, and community partners,” said Tara A. Schwetz, Ph.D., NIH Deputy Director for Program Coordination, Planning, and Strategic Initiatives. “It is the largest investment made by INCLUDE in its seven-year existence, and we believe it will not only increase participation in clinical research, but also diversify our study population.”
The INCLUDE Project was launched by NIH in 2018 and has invested nearly $435 million in over 350 awards. It involves many of the 27 institutes and centers of NIH, which is the nation’s leading medical research agency within the U.S. Department of Health and Human Services.
BACK TO TOP