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AzTrials

Down SyndromeNCT04631237

Developing a Down Syndrome Health Instrument

An observational study of Down Syndrome and Health, Subjective, run by Massachusetts General Hospital at 1 site in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

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. Read more about this study

Who is it for?
Ages 18 years and older
Conditions the study is for
Down Syndrome, Health, Subjective
How many people
758 participants
Where
1 siteUnited States
Study dates
3 Apr 2020to 31 Mar 2025
Phase
Observational
Are there results?
Yes, posted in the registrySummary in the doctors' view

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 years and older
  • All sexes
  • No healthy volunteers
  • Adult, Older adult

Study population: Primary caregivers and individuals with DS

Who may be able to join

  • Primary caregiver of an individual with DS (individual with DS age: <22 years)
  • Caregiver age: ≥18 years
  • Fluent in written and spoken English
  • Able to read and provide informed consent

Who cannot join

  • Physical or mental condition of caregiver that would prohibit self-administration of questionnaire
  • Mosaic Down syndrome: based on medical record review. If caregiver is uncertain or mosaicism is unknown, we will request additional records.

Trial locations and contacts

1 site in 1 country.

United States1 site

  • Massachusetts General Hospital

    Boston, Massachusetts, 02114

Other trials in United States

About this study

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.

Being tested
Observational, no intervention
Keywords
health status
Medical subject headings
Down Syndrome

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • Observational, no interventionOther

    No intervention involved

Study groups in NCT04631237
Study groupRoleWhat they receive
Focus GroupsN=52
Receives: Other: Observational, no intervention
Cognitive InterviewsN=24
Receives: Other: Observational, no intervention
SurveyN=542
Receives: Other: Observational, no intervention

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. 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

    Measured: At the time of survey completion

Secondary outcomes (2)

  1. Number of Focus Group Participants Who Participated to Make the Conceptual Model

    Descriptive focus group results regarding health views. Outline of the preliminary conceptual model

    Measured: At the time of focus group completion

  2. Number of Completed Cognitive Interviews

    Measured: At the time of cognitive interview

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted17 Nov 2020
  2. Study start3 Apr 2020
  3. Primary completion31 Mar 2025
  4. Study completion31 Mar 2025

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
758 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT04631237
Sponsor's protocol ID
2020P000213
Status last verified
Apr 2026
First submitted
22 Oct 2020
Last updated
27 Apr 2026
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • 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.

    PubMed 34781710

  • 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.

    PubMed 35676858

  • 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.

    PubMed 36624557

  • 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.

    PubMed 36650105

  • 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.

    PubMed 37183579

  • 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.

    PubMed 39999870

  • 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.

    PubMed 40391503

  • 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.

    PubMed 40712746

  • 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.

    PubMed 40937636

  • 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.

    PubMed 41098034

  • 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.

    PubMed 42260322

  • 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.

    PubMed 41306073

  • 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.

    PubMed 41192789

Questions about this trial

What is this clinical trial studying?

An observational study of Down Syndrome and Health, Subjective, run by Massachusetts General Hospital at 1 site in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 27 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

Yes. Results are posted in the registry (first posted 27 Apr 2026). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Number of Completed Surveys for Validation Analysis (time frame: At the time of survey completion). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04631237, which also lists 13 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Apr 2026; AzTrials last refreshed its copy on 27 Oct 2026.

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