INCLUDE project by NIH on critical health and quality-of-life

The directive calls for a new trans-NIH research initiative on critical health and quality-of-life needs for individuals with Down syndrome.

The INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) project was launched in June 2018 in support of a Congressional directive in the fiscal year (FY) 2018 Omnibus Appropriations. The directive calls for a new trans-NIH research initiative on critical health and quality-of-life needs for individuals with Down syndrome. NIH is dedicating $21 million for INCLUDE research, bolstering total funding for Down syndrome research in FY2018 to an estimated $58 million, with further support anticipated in FY2019 and beyond, pending availability of funds.

INCLUDE will investigate conditions that affect individuals with Down syndrome and the general population, such as Alzheimer’s disease/dementia, autism, cataracts, celiac disease, congenital heart disease, and diabetes. Applying the expertise and resources from multiple NIH Institutes and Centers.

Conduct targeted, high-risk, high-reward basic science studies on chromosome 21. Past research has shed light on the complex biology that results in three copies of chromosome 21 (trisomy 21) present in individuals with Down syndrome compared to the usual matched pair. Increased funding for basic research on chromosome 21 will improve understanding of the biology of Down syndrome and support the development of new treatments for health conditions experienced by individuals with Down syndrome. With advances in technology, researchers can further explore the effects of multiple genes on chromosome 21 and identify genetic pathways that may be most responsive to new therapies.

Assemble a large study population of individuals with Down syndrome. A large study population, called a cohort, of individuals with Down syndrome, is essential for following the development of the condition over time and fully characterizing condition traits at different stages of development. Several smaller cohorts composed of this population currently exists.

INCLUDE aims to connect these existing cohorts and enroll new participants at different ages to create one large cohort to study the full range of conditions experienced by individuals with Down syndrome across the lifespan. INCLUDE will supplement extensive data collected from the cohort with information from registries and other data sources to provide a rich resource for studying the condition more broadly.

Include individuals with Down syndrome in existing clinical trials. Currently, there are numerous clinical trials that study conditions and diseases that disproportionately affect individuals with Down syndrome, but exclude this population from participation. INCLUDE will identify clinical trials that seek to address conditions common in individuals with Down syndrome, such as heart disease, diabetes, and dementia, and bolster recruitment and inclusion of people with Down syndrome in more clinical studies across multiple clinical sites.

An increase in clinical trial participation will increase data on this population for analysis and evaluation and will allow existing and new therapies for co-occurring conditions currently being tested in clinical trials to include individuals with Down syndrome.