An observational study in Down Syndrome and Health, Subjective, sponsored by Massachusetts General Hospital. Completed at 1 site in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-04-27.
Sponsored by Massachusetts General Hospital · Observational
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.
432 studies on the registry are indexed under Down Syndrome; 100 are open to participants now.
This study's enrollment of 758 is above the median of 150 across 141 observational studies indexed under Down Syndrome.
Browse Down Syndrome studies →Massachusetts General Hospital is the lead sponsor of 2,536 studies on the registry; 446 are open to participants now.
Of its 214 completed or terminated interventional studies of FDA-regulated products, 161 (75%) have results posted.
Counted across the registry records on this site, refreshed daily.
Primary caregivers and individuals with DS
Exclusion Criteria:
N=52
Other: Observational, no intervention
N=24
Other: Observational, no intervention
N=542
Other: Observational, no intervention
No intervention involved
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
Time frame: At the time of survey completion
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
Time frame: At the time of focus group completion
Number of Completed Cognitive Interviews
Time frame: At the time of cognitive interview
| Milestone | Focus Groups | Cognitive Interviews | Survey |
|---|---|---|---|
| Started | 28 | 42 | 688 |
| Completed | 28 | 42 | 542 |
| Not completed | 0 | 0 | 146 |
Local and national survey results, cognitive interviews and validation of Down syndrome health measure (DSHM) using psychometric analysis and factor analysis
| Participants | Focus Groups | Cognitive Interviews | Survey |
|---|---|---|---|
| Number of Completed Surveys for Validation Analysis | 0 | 0 | 542 |
Descriptive focus group results regarding health views. Outline of the preliminary conceptual model
| Participants | Focus Groups | Cognitive Interviews | Survey |
|---|---|---|---|
| Number of Focus Group Participants Who Participated to Make the Conceptual Model | 28 | 0 | 0 |
| Participants | Focus Groups | Cognitive Interviews | Survey |
|---|---|---|---|
| Number of Completed Cognitive Interviews | 0 | 42 | 0 |
Collected over 1 year. Non-serious events are listed at a 1% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| Focus Groups | 0/28 (0%) | 0/28 (0%) | 0/28 (0%) |
| Cognitive Interviews | 0/42 (0%) | 0/42 (0%) | 0/42 (0%) |
| Survey | 0/542 (0%) | 0/542 (0%) | 0/542 (0%) |
| Age, Categorical(Participants) | Focus Groups | Cognitive Interviews | Survey | Total |
|---|---|---|---|---|
| <=18 years | 4 | 0 | 0 | 4 |
| Between 18 and 65 years | 24 | 42 | 688 | 754 |
| >=65 years | 0 | 0 | 0 | 0 |
| Sex: Female, Male(Participants) | Focus Groups | Cognitive Interviews | Survey | Total |
|---|---|---|---|---|
| Female | 23 | 36 | 462 | 521 |
| Male | 5 | 6 | 56 | 67 |
| Ethnicity (NIH/OMB)(Participants) | Focus Groups | Cognitive Interviews | Survey | Total |
|---|---|---|---|---|
| Hispanic or Latino | 0 | 6 | 27 | 33 |
| Not Hispanic or Latino | 0 | 36 | 510 | 546 |
| Unknown or Not Reported | 28 | 0 | 151 | 179 |
| Race (NIH/OMB)(Participants) | Focus Groups | Cognitive Interviews | Survey | Total |
|---|---|---|---|---|
| American Indian or Alaska Native | 1 | 1 | 1 | 3 |
| Asian | 1 | 0 | 13 | 14 |
| Native Hawaiian or Other Pacific Islander | 0 | 0 | 4 | 4 |
| Black or African American | 1 | 4 | 18 | 23 |
| White | 25 | 36 | 485 | 546 |
| More than one race | 0 | 1 | 10 | 11 |
| Unknown or Not Reported | 0 | 0 | 157 | 157 |
Documents are hosted by the registry — open the source record to download them.
Plan to share: No
This study is completed, as verified in Apr 2026. You cannot join it, but the record below documents what was studied.
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Massachusetts General Hospital