NCT04631237|CompletedResults
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Sponsor study identifier
observational
758
1 country
1
Study Start
April 3, 2020
Actual (reported)Primary Completion
March 31, 2025
Actual (reported)Study Completion
March 31, 2025
Actual (reported)Although over 200,000 individuals with DS live in the United States, studies to date have focused on outcomes apart from health. The foundation for this proposal is based on the need to accurately measure health of all individuals - specifically, with DS - and the dearth of available tools for this population. Creating such an instrument will provide a barometer of the current state of health for DS and hold use in future research. In this project, I propose to create an instrument that directly assesses health in DS - the Down syndrome Health Instrument (DHI). More specifically, the aims of this proposal are: 1. To conduct focus groups among caregivers, individuals with DS, panels of experts on DS and primary care physicians, and cognitive interviews to refine a conceptual model of health for DS and create an item pool, 2. To administer the DHI and establish internal validity, reliability, and external validity of the DHI for use in clinical research, and 3. To test the usability of the DHI in two pilot settings: research and clinical. This instrument will measure patient-reported health in DS for the first time and allow measurement of health as an outcome which is not currently possible in this population. This can identify gaps in care, then direct and optimize interventions that will improve care.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
March 31, 2025
Actual (reported)Click on a node to explore related trials.
Some registry-reported names shown below are not yet linked in this graph.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
April 3, 2020
Actual (reported)October 22, 2020
Actual (reported)November 17, 2020
Actual (reported)March 31, 2025
Actual (reported)March 31, 2025
Actual (reported)April 27, 2026
Actual (reported)Number of Completed Surveys for Validation Analysis
Local and national survey results, cognitive interviews and validation of Down syndrome health measure (DSHM) using psychometric analysis and factor analysis
At the time of survey completion
Number of Focus Group Participants Who Participated to Make the Conceptual Model
At the time of focus group completion
Number of Completed Cognitive Interviews
At the time of cognitive interview
N=52
N=24
N=542
No intervention involved
Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.
Primary caregivers and individuals with DS
Massachusetts General Hospital
Boston, Massachusetts, 02114, United States
Santoro SL, Peters MLB. K Awards: The Journey of a Thousand Steps. Ann Intern Med. 2021 Dec;174(12):1735-1737. doi: 10.7326/M21-2692. Epub 2021 Nov 16. No abstract available.
Santoro SL, Donelan K, Constantine M. Proxy-report in individuals with intellectual disability: A scoping review. J Appl Res Intellect Disabil. 2022 Sep;35(5):1088-1108. doi: 10.1111/jar.13013. Epub 2022 Jun 8.
Santoro SL, Cabrera MJ, Haugen K, Krell K, Merker VL. Indicators of health in Down syndrome: A virtual focus group study with patients and their parents. J Appl Res Intellect Disabil. 2023 Mar;36(2):354-365. doi: 10.1111/jar.13065. Epub 2023 Jan 9.
STEPHANIE L SANTORO, MD
MGH
758 participants (actual enrollment reported by the registry).
First Submitted
October 22, 2020
First Posted
November 17, 2020
Study Start
April 3, 2020
Actual (reported)An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You
Contact the study team to confirm eligibility.
Santoro SL, Cabrera MJ, Co JPT, Constantine M, Haugen K, Krell K, Skotko BG, Winickoff JP, Donelan K. Health in Down syndrome: creating a conceptual model. J Intellect Disabil Res. 2023 Apr;67(4):323-351. doi: 10.1111/jir.13007. Epub 2023 Jan 17.
Santoro SL, Haugen K, Donelan K, Skotko BG. Global health measures from a National Down Syndrome Registry. Am J Med Genet A. 2023 Aug;191(8):2092-2099. doi: 10.1002/ajmg.a.63243. Epub 2023 May 14.
Shaffer M, Co JPT, Donelan K, Skotko BG, Torres A, Winickoff JP, Santoro SL. Successful (and Unsuccessful) Recruitment Approaches and Participant Loss in a Down Syndrome Survey. Am J Intellect Dev Disabil. 2025 Mar 1;130(2):131-145. doi: 10.1352/1944-7558-130.2.131.
Witt M, Shaffer M, Torres A, Santoro SL. Research Letter: Recruiting a Diverse Cohort in Genetics Research-Reflecting on Demographic Representation in a Down Syndrome Survey. Am J Med Genet A. 2025 Oct;197(10):e64111. doi: 10.1002/ajmg.a.64111. Epub 2025 May 20. No abstract available.
Witt M, Palumbo M, Santoro SL. Bothersome and Impactful Health Conditions in Children and Adolescents with Down Syndrome. J Pediatr. 2025 Dec;287:114748. doi: 10.1016/j.jpeds.2025.114748. Epub 2025 Jul 23.
Witt M, Krell K, Santoro SL. Caregiver Interviews Regarding Health in Down Syndrome. Am J Med Genet A. 2026 Feb;200(2):300-307. doi: 10.1002/ajmg.a.64253. Epub 2025 Sep 12.
Santoro SL, Nichols D, Witt M, Oreskovic NM. Daily Activities, Exercise and Endurance in Down Syndrome. Am J Med Genet A. 2026 Mar;200(3):592-605. doi: 10.1002/ajmg.a.64283. Epub 2025 Oct 16.
Witt ME, Zeng C, Santoro SL. The Prevalence of Co-Occurring Conditions and an Exploration of Social Factors Influencing Health in Down Syndrome. Am J Med Genet A. 2026 Jun 8. doi: 10.1002/ajmg.a.70219. Online ahead of print.
Krell K, Witt M, Santoro SL. Caregivers' Perspectives on Medical Management and Its Helpfulness in Down Syndrome. Am J Med Genet A. 2026 Apr;200(4):835-845. doi: 10.1002/ajmga.70006. Epub 2025 Nov 27.
Santoro SL, Campbell A, Cabrera M, Co JPT, Donelan K, Haugen K, Krell K, Shaffer M, Skotko BG, Winickoff JP, Witt M, Constantine M. Development and Validation of a Health Measure for Down Syndrome. J Pediatr. 2026 Feb;289:114888. doi: 10.1016/j.jpeds.2025.114888. Epub 2025 Nov 4.
Primary Completion
March 31, 2025
Actual (reported)Study Completion
March 31, 2025
Actual (reported)Last Updated
April 27, 2026
Results First Posted
April 27, 2026
Record last verified: 2026-04
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Source: ClinicalTrials.gov.
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