Developing a Down Syndrome Health Instrument

Down Syndrome Clinical Trial

Official title:

Developing a Down Syndrome Health Instrument

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04631237
• Other study ID #: 2020P000213
• Status: Recruiting
• Start date: April 3, 2020
• Est. completion date: March 31, 2025

Study information

• Verified date: November 2020
• Source: Massachusetts General Hospital
• Contact: STEPHANIE L SANTORO, MD
• Phone: 16176433197
• Email: ssantoro3[@]mgh.harvard.edu
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 676
• Est. completion date: March 31, 2025
• Est. primary completion date: March 31, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Down Syndrome
• Health, Subjective
• Syndrome

Intervention

Other:
• Observational, no intervention
No intervention involved

Locations

Country	Name	City	State
United States	Massachusetts General Hospital	Boston	Massachusetts

Sponsors (2)

Lead Sponsor	Collaborator
Massachusetts General Hospital	National Institutes of Health (NIH)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Survey results, cognitive interviews, and validation	Local and national survey results, cognitive interviews and validation of DHI	Within 12 months of completion of analysis of surveys
Secondary	Focus group results and conceptual model	Descriptive focus group results regarding health views. Outline of the preliminary conceptual model	Within 12 months of completion of focus groups