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OpenTrials
Completed

NCT Number: NCT04631237

Developing a Down Syndrome Health Instrument

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.

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Key information

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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

Exclusion criteria

  • 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.

Treatment and study plan

Observational, no intervention

Other

No intervention involved

Primary outcomes

  1. Number of Completed Surveys for Validation Analysis

    Time frame: At the time of survey completion

    Local and national survey results, cognitive interviews and validation of Down syndrome health measure (DSHM) using psychometric analysis and factor analysis

Secondary outcomes

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

    Time frame: At the time of focus group completion

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

  2. Number of Completed Cognitive Interviews

    Time frame: At the time of cognitive interview

Sponsors and collaborators

Lead sponsor

Massachusetts General Hospital

Other

Collaborators

  • National Institutes of Health (NIH)

Registry information

Important dates

Study start
2020
Primary completion
2025
Study completion
2025
First posted
Nov 17, 2020
Registry last updated
Apr 27, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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