Department of Health
and Human Services (HHS)
and Human Services (HHS)
March 10, 2021
NOT-HD-20-013 - Request for Information (RFI): Invitation to Comment on Updates to NIH Research Plans on Down Syndrome
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Office of The Director, National Institutes of Health (OD)
The National Institutes of Health (NIH) has recognized the need to update its two current Down syndrome-related research plans and invites comment from the Down syndrome community on the draft of the combined NIH INCLUDE Down Syndrome Research Plan, scheduled for publication in 2021. NIH published Down Syndrome Directions: The NIH Research Plan on Down Syndrome in 2014. In 2018, the INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project released a Research Plan to address three major domains of research - basic science, cohort building, and clinical research. The NIH has combined these two prior research plans into one NIH Research Plan to capture past scientific advances and establish new goals and objectives for Down syndrome research. NIH previously issued NOT-HD-20-013 "Request for Information (RFI): Invitation to Comment on Updates to NIH Research Plans on Down Syndrome” in April 2020 that invited public comments from the Down syndrome community regarding the effectiveness of the previous plans, advances made since 2014, remaining research gaps, and suggestions concerning new future research objectives. Those comments have been incorporated into the current draft NIH INCLUDE Down Syndrome Research Plan. NIH welcomes comments from the public concerning the draft research plan, especially regarding research goals and objectives that have been revised based on this feedback.
Background
Down syndrome, a condition in which a person is born with an extra copy of chromosome 21, is the most common chromosomal cause of intellectual disability and one of the most visible and universally recognized genetic syndromes. Research on lifelong disorders, such as Down syndrome, has been a fundamental part of the NIH’s mission for over 60 years. Medical improvements and societal changes have extended the life expectancy of people with this condition, and the average lifespan of a Caucasian with Down syndrome has doubled from approximately 30 to 60 years over the past 30 years; however, comparable data do not exist for members of racial and ethnic minorities with Down syndrome, whose average lifespan is considerably lower. While intellectual disability is one consequence of having a third copy of chromosome 21 (trisomy 21), people with Down syndrome are also at higher risk than the general population for Alzheimer’s disease and dementia, leukemia, autism, cataracts, celiac disease, congenital heart disease, sleep apnea, diabetes, and other health conditions. At the same time, people with Down syndrome are protected from other health conditions such as solid tumors and myocardial infarction. The INCLUDE project was designed to fill some of these knowledge gaps.
The first NIH Research Plan on Down Syndrome was published in October 2007. It was developed by the Trans-NIH Down Syndrome Working Group, charged with coordinating ongoing research related to Down syndrome and bolstering new research efforts based on identification of the areas of greatest scientific opportunity, especially as they related to the development of future treatments. The 2014 plan, Down Syndrome Directions, was revised to take into account extensive input from the Down syndrome community, particularly as represented by the Down Syndrome Consortium , a public-private partnership that includes NIH staff, researchers, constituency organizations and professional societies, and individuals with Down syndrome and their families.
A Congressional directive in the fiscal year (FY) 2018 Omnibus Appropriations legislation called for a new trans-NIH research initiative on critical health and quality-of-life needs for individuals with Down syndrome. NIH launched the INCLUDE project in June 2018 in support of this initiative.
The INCLUDE project’s goals are summarized in the following 3 components:
In FY 2018, NIH dedicated almost $23 million under this new project through administrative supplements to existing grants. In FY 2019, NIH provided about $35 million in new funding, and in FY 2020, NIH committed about $60 million in new funding to INCLUDE.
The INCLUDE project, supported by multiple NIH Institutes and Centers, aims to include people with Down syndrome in all aspects of research, from support for dedicated basic science studies through opportunities to participate in existing and future clinical trials. Importantly, the INCLUDE project does not represent the entire sum of NIH investments related to Down syndrome. In addition, the NIH-funded resource, DS-Connect®: The Down Syndrome Registry, is being used to recruit individuals with Down syndrome to participate in clinical research projects focused on health issues for people with the condition.
In response to feedback to the 2020 RFI (NOT-HD-20-013), the new NIH INCLUDE Down Syndrome Research Plan has goals and objectives organized under the following headings: Basic research; Cohort Development/Epidemiology; Clinical Research/Co-occurring Conditions; Living and Aging with Down Syndrome/Services Research; and Research Infrastructure and Tools. Note that the Portfolio Analysis section of the draft plan and the bibliography (appendix F) have not been completed, in order to capture as many of the key research articles published through 2020.
Information Requested
The NIH is interested in soliciting comments and suggestions from a range of stakeholders, including the scientific community, people with Down syndrome and their families, constituency organizations, and professional societies, regarding the draft revised, combined NIH INCLUDE Down Syndrome Research Plan.
The NIH is especially interested in responses to the following topics:
How to Submit a Response
Responses will be accepted until May 5, 2021. All responses must be submitted via email to DownSyndrome@mail.nih.gov. Please include the notice number, NOT-HD-21-014, in the subject line and include your complete contact information with your response. All submissions will be considered in revising the draft Research Plan. Confidential, personal, or private identifiable information should not be included as part of responses to this RFI. Responses to this RFI are voluntary.
Melissa Parisi, MD, PhD
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Email: DownSyndrome@mail.nih.gov
Telephone: 301-496-1383