Each year, about 6,000 American children are born with Down syndrome (DS), the most common chromosomal alteration. Adults with DS are at very high risk for developing Alzheimer’s disease (AD). Virtually all adults with DS have brain changes consistent with AD by age 40, and a high percentage of them go on to develop dementia by their late 60s. But there is wide variation in age at dementia symptom onset, which suggests there are additional genetic, biological, and environmental factors that modify disease progression. We need further and more intensive research to better understand how AD develops in people with DS and to develop possible treatments to delay or prevent it.
The INCLUDE Project and Alzheimer’s research
To tackle this challenge, in 2018, NIH launched the Investigation of Co-occurring Conditions Across the Lifespan to Understand Down Syndrome (INCLUDE) Project. INCLUDE supports DS-related research across the lifespan via basic science, clinical studies, and clinical trials. INCLUDE prioritizes the rapid and broad sharing of data, biosamples, knowledge, and tools to the wider research community along with training the next wave of DS-integrated scientists.
The Alzheimer’s Clinical Trials Consortium-Down Syndrome (ACTC-DS) is one such INCLUDE-supported program. It builds upon the NIA-supported Alzheimer’s Clinical Trials Consortium to conduct AD clinical trials in adults with DS in the United States and Europe, including sites that are part of the NIH-supported Alzheimer’s Biomarkers Consortium – Down Syndrome (ABC-DS). ACTC-DS’s first project is the Trial-Ready Cohort – Down Syndrome, which aims to create a cohort of adults living with DS who are interested in participating in future AD clinical trials and willing to undergo blood tests, brain imaging, and cognitive testing.
Developing collaboration in AD/DS research
NIA and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) have a long-standing history of collaboration in AD and DS research. In September 2020, we were pleased to build upon this history and host a virtual meeting of the NIA-funded Alzheimer’s Disease Research Centers (ADRCs) and the NICHD-supported Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Centers (IDDRCs). The workshop connected a wide range of investigators from multiple institutions and encouraged collaborations within and among the sites.
Several joint projects are now in development as a result of the introductions fostered during this meeting. Attendees discussed and were encouraged to use the Down syndrome-specific module developed by the National Alzheimer’s Coordinating Center and available for use by ADRCs and IDDRCs. This DS clinical and cognitive assessment module is harmonized with some of the ABC-DS clinical and neuropsychological measures. Data and biosamples generated from the participants who are being evaluated with the module will also be available for broader sharing.
If you’re passionate about DS and AD research, join us! The resources from these important collaborative efforts will be available for investigators who are interested in further expanding DS and AD research. To learn more about INCLUDE Project funding opportunities and supported investigators and projects, visit the INCLUDE website. Please reach out to Laurie Ryan, Nina Silverberg, and Melissa Parisi with additional questions.