Request Information RFI): Invitation Comment Updates NIH Research Plans Down Syndrome Notice Number: NOT-HD-20-013 Key Dates Release Date: April 13, 2020 Response Date: July 10, 2020 Related Announcements None Issued Eunice Kennedy Shriver National Institute Child Health Human Development NICHD) National Eye Institute NEI) National Heart, Lung, Blood Institute NHLBI) National Human Genome Research Institute NHGRI) National Institute Aging NIA) National Institute Allergy Infectious Diseases NIAID) National Institute Arthritis Musculoskeletal Skin Diseases NIAMS) National Institute Deafness Other Communication Disorders NIDCD) National Institute Dental Craniofacial Research NIDCR) National Institute Diabetes Digestive Kidney Diseases NIDDK) National Institute Environmental Health Sciences NIEHS) National Institute General Medical Sciences NIGMS) National Institute Mental Health NIMH) National Institute Neurological Disorders Stroke NINDS) National Institute Nursing Research NINR) National Institute Minority Health Health Disparities NIMHD) National Center Complementary Integrative Health NCCIH) National Center Advancing Translational Sciences NCATS) Division Program Coordination, Planning Strategic Initiatives, Office Research Infrastructure Programs ORIP) National Cancer Institute NCI) Office The Director, National Institutes Health OD) Purpose Purpose Given rapidly evolving science this area, National Institutes Health NIH) recognizes need updating two current Down syndrome-related research plans invites comment the Down syndrome community update unify plans.Down Syndrome Directions: NIH Research Plan Down Syndromewas published 2014. recently, 2018, INvestigation Co-occurring conditions across Lifespan Understand Down syndromE INCLUDE) Project released Research Plan address three major domains research - basic science, cohort building, clinical research. NIH proposes combine two plans one NIHINCLUDE Down SyndromeResearch Plan capture breadth research supported NIH Down syndrome. part this process, NIH welcomes comments the public concerning effectiveness the previous plans, advances since 2014, remaining research gaps, suggestions concerning new future research objectives. Background mission the NIH to seek fundamental knowledge the nature behavior living systems the application that knowledge enhance health, lengthen life, reduce illness disability. Research lifelong disorders, such Down syndrome, been fundamental part the NIHs mission over 60 years. Medical improvements societal changes extended life expectancy people this condition, the average lifespan a Caucasian Down syndrome doubled approximately 30 60 years over past 30 years; however, comparable data not exist racial ethnic minorities Down syndrome, whose average lifespan considerably lower. While intellectual disability the primary consequence having third copy chromosome 21 trisomy 21), people Down syndrome also higher risk the general population Alzheimers disease dementia, leukemia, autism, cataracts, celiac disease, congenital heart disease, sleep apnea, diabetes, other health conditions. the same time, people Down syndrome protected other health conditions such solid tumors myocardial infarction. INCLUDE project designed fill of knowledge gaps. first NIH Research Plan Down Syndrome published October 2007. was developed the Trans-NIH Down Syndrome Working Group, composed program scientists Institutes Centers across NIH, had charged coordinating ongoing research related Down syndrome to bolster new research efforts based identification the areas greatest scientific opportunity, especially they related the development future treatments. organizing research objectives groupings subject area timeframe, 2007 plan served inform Down syndrome community NIHs goals moving ahead this area fostered collaborations between NIH other agencies groups. 2014 plan,Down Syndrome Directions,was revised take account extensive input the Down syndrome community, particularly represented the Down Syndrome Consortium
https://.downsyndrome.nih.gov), public-private partnership includes researchers, constituency organizations professional societies, individuals Down syndrome their families. plan included research goals five major areas: Pathophysiology Down Syndrome Disease Progression; Down Syndrome-Related Conditions: Diagnosis, Screening, Functional Measures; Treatment Management; Down Syndrome Aging; Research Infrastructure. details the research plan, see:
https://www.nichd.nih.gov/sites/default/files/publications/pubs/Documen…. Congressional directive the fiscal year FY) 2018 Omnibus Appropriations legislation called a new trans-NIH research initiative critical health quality-of-life needs individuals Down syndrome. NIH launched INCLUDE project June 2018 support this initiative. primary focus to investigate conditions affect individuals Down syndrome the general population, such Alzheimers disease/dementia, leukemia, autism, cataracts, celiac disease, congenital heart disease, diabetes. FY 2018, NIH dedicated almost 23 million under new project through administrative supplements both Down syndrome-focused non-Down syndrome-focused grants. FY 2019, NIH provided 35 million new funding under Funding Opportunity Announcements
https://www.nih.gov/include-project/funding). INCLUDE project, supported multiple NIH Institutes Centers, aims include people Down syndrome all aspects research, support dedicated basic science studies through opportunities participate existing future clinical trials. Importantly, INCLUDE project does represent entire sum NIH investments related Down syndrome. FY 2019, example, total 86 million. Congress provided 60 million INCLUDE FY 2020. INCLUDE projects goals summarized the following 3 components: Conduct targeted, high-risk, high-reward basic science studies chromosome 21 Assemble large study population individuals Down syndrome Include individuals Down syndrome existing future clinical trials further details, see:
https://www.nih.gov/include-project/include-project-research-plan. Information Requested NIH interested soliciting comments suggestions a range stakeholders, including scientific community, people Down syndrome their families, constituency organizations, professional societies, regarding topics be included the revised, combined NIHINCLUDE Down SyndromeResearch Plan. Notice remain open until July 10, 2020. NIH interested responses the following topics: Whether any the objectives the 2014 NIH Research Plan Down Syndrome been achieved, full in part. Achievements date full in part) under INCLUDE project, whether any the goals its 2018 Research Plan been met. Seminal publications have resulted research Down syndrome supported NIH since 2014, including INCLUDE project. Revised research objectives aimed expediting research Down syndrome, including unmet needs basic, translational, clinical research, identifying whether is short- longer-term priority. Remaining research gaps addressed either 2014 NIH Research Plan Down Syndrome, the 2018 INCLUDE Research Plan, especially those can started completed within five- seven-year timeframe. Strategies disseminating evidence-based information NIH-supported research widely health care professionals families may caring people Down syndrome. Strategies facilitating collaborations, such public-private partnerships, expand scope number research objectives can addressed. Whether following overall structure the revised, combined NIH INCLUDE Down Syndrome Research Plan captures major goals NIH research efforts: Conducting basic science studies chromosome 21 areas highly relevant Down syndrome Conducting translational research, including connecting existing resources establishing cohort individuals Down syndrome study Including individuals Down syndrome existing future clinical trials, including individuals underrepresented racial ethnic minority groups, range functional abilities, underserved areas, including research co-occurring conditions Research Infrastructure including models study; DS-Connect: Down Syndrome Registry
https://DSConnect.nih.gov) to Submit Response Responses be accepted until July 10, 2020. responses must submitted via email
toDownSyndrome@mail.nih.gov. Please include notice number, NOT-OD-20-013, the subject line include complete contact information your response. submission be considered revising Research Plan. Confidential, personal, private identifiable information should be included part responses this RFI. anonymized summary the responses be posted the INCLUDE website:
https://www.nih.gov/include-project. Inquiries Please direct inquiries to: Lisa Kaeser, JD Eunice Kennedy ShriverNational Institute Child Health Human Development NICHD) Email:
DownSyndrome@mail.nih.gov