About | INCLUDE

About The INCLUDE Project

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

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, INCLUDE will:

1. 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 toward basic research on chromosome 21 will improve understanding of the biology of Down syndrome and support 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.
2. 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 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.
3. Conduct clinical trials research inclusive of individuals with Down syndrome. Currently, there are numerous clinical trials that study conditions and diseases that disproportionately affect individuals with Down syndrome but exclude this population from participation. Additionally, there are few clinical trials focused primarily on individuals with Down syndrome despite their relative frequency in the general population. INCLUDE will identify clinical trials that seek to address conditions common in the Down syndrome population and bolster recruitment and inclusion of people with Down syndrome, develop meaningful standards for inclusivity of individuals with Down syndrome in trials, and establish measures specific to individuals with Down syndrome for evaluating clinical success. These efforts should support development of new and existing therapies for co-occurring conditions in Down syndrome and establish a clinical trial infrastructure to support trials of these therapies.

About Down Syndrome

Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. The condition is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. People with Down syndrome may have a variety of birth defects. About half of all affected children are born with a heart defect. Individuals with Down syndrome have an increased risk of developing several medical conditions, including hearing and vision problems, gastroesophageal reflux, and celiac disease. About half of adults with Down syndrome develop Alzheimer’s disease. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age. However, most babies born with Down syndrome are born to mothers less than 35 years old, because there are many more births among younger women.

Down syndrome is the most common genetic cause of intellectual disability, the most common autosomal trisomy, and one of the most visible and universally recognized genetic syndromes. Each year there are approximately 6,000 babies born in the United States with Down syndrome, affecting approximately 1 out of every 700 babies. However, with appropriate support and treatment, many people with Down syndrome lead happy, productive lives. Within the past 25 years, the average lifespan for a person with Down syndrome has doubled, from 30 to 60 years. Despite this increase in lifespan, individuals with Down syndrome and their families face significant and changing health challenges.