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An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You (DSC2U)

Primary Purpose

Down Syndrome

Status
Completed
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
Down Syndrome Clinic to You (DSC2U)
Sponsored by
Massachusetts General Hospital
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional health services research trial for Down Syndrome focused on measuring Online Health Tool, Health evaluations, Celiac Screen, Sleep Study, Thyroid Test, Audiogram, Ophthalmology evaluation, Healthcare outcomes survey, Experience survey

Eligibility Criteria

1 Year - undefined (Child, Adult, Older Adult)All SexesAccepts Healthy Volunteers

Potential eligible participants were directed to the study website (www.dsc2u.org) for the eligibility screening questionnaire in English and Spanish and online consent. After selecting a language preference (English or Spanish), in addition to questions about the child's or dependent's biological sex, race and ethnicity, the eligibility screening questions included:

  1. Do you have a child or dependent with DS?
  2. Is your child or dependent 1 year or older?
  3. When is your child's next annual well visit ("PCP visit")?
  4. Does your child or dependent currently receive care at a DS specialty clinic? (If the child or dependent was actively followed in a DS specialty clinic, even one out of state. For example, a family from Arizona who travels to Texas each year for their child to be seen in a DS specialty clinic would be ineligible)

Inclusion Criteria:

  • If you have a child or dependent with Down syndrome (DS)
  • If your child or dependent is 1 year or older
  • If your child or dependent is does not receive care at a DS specialty clinic

Exclusion Criteria:

  • If your child or dependent does receive care at a DS specialty clinic
  • If your child or dependent is under 1 year old
  • If your child or dependent has a PCP that is already involved in the study

DS occurs naturally and proportionally in all races and ethnicities, so the study's population estimates were proportional to the racial/ethnic distribution of the U.S. population, as reported in the 2010 U.S. Census. To achieve commensurate representation in the study, the investigators applied a quota system in offering enrollment using the race and ethnicity of the individual with DS (not the caregiver).

The investigators' plan was to enroll participants such that there were: no more than 144 white individuals with DS, no fewer than 25 Hispanic or Latino/Latina individuals with DS, and no fewer than 20 black individuals with DS. The team also planned to enroll no more than 120 individuals with DS of one sex.

Sites / Locations

  • Massachusetts General Hospital

Arms of the Study

Arm 1

Arm 2

Arm Type

Experimental

No Intervention

Arm Label

Intervention Group

Control Group

Arm Description

The participants randomized to the intervention group completed the DSC2U questionnaire, and received online access to a personalized Caregiver Checklist and PCP plan. Caregivers were encouraged to share and discuss the PCP plan at their next wellness visit with the PCPs.

The participants randomized to the control group, received usual care for 7 months, after their scheduled PCP appointment. They did not receive DSC2U during these 7 months, but did receive the online, personalized health assessment tool (DSC2U) at the end of the 7 months, after the primary and secondary outcomes were measured.

Outcomes

Primary Outcome Measures

Number of Participants With Indicated Evaluations That Were Completed or Recommended by the PCP
Adherence to the five health evaluations indicated by national guidelines for Down syndrome. The five health evaluations included: celiac screen, sleep study, thyroid test, audiogram, and ophthalmology evaluation.

Secondary Outcome Measures

Questionnaire: Caregiver Experience With the Intervention
Measure the caregiver experience with the PCP using a 10-point Likert scale with "10" representing "most helpful" and "0" representing "least helpful." This questionnaire was only distributed to those in the Intervention arm because it assessed their experience with the Intervention itself.
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up
PedsQL 4.0 parent-proxy and PedsQL 2.0 Family Impact Module (https://www.pedsql.org/) were used to assess for qualify of life for people with Down syndrome and their caregivers. Here we report the change from baseline on the subdomains of these assessments. The subdomains on PedsQL 4.0 parent proxy were Psychosocial and Physical. The subdomains on the Family Impact Module (FIM) were Parental and Family scores. For both instruments we also report the total/summary scores. PedsQL scoring instructions were used. These are all scaled from 0 (Low) to 100 (High). Higher scores indicate a better quality of life. Baseline: (Mean±SD); Change: (Mean±SE)
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up
PedsQL 4.0 parent-proxy and PedsQL 2.0 Family Impact Module (https://www.pedsql.org/) were used to assess for qualify of life for people with Down syndrome and their caregivers. Here we report the change from baseline on the subdomains of these assessments. The subdomains on PedsQL 4.0 parent proxy were Psychosocial and Physical. The subdomains on the Family Impact Module (FIM) were Parental and Family scores. For both instruments we also report the total/summary scores. PedsQL scoring instructions were used. These are all scaled from 0 (Low) to 100 (High). Higher scores indicate a better quality of life. Baseline: (Mean±SD); Change: (Mean±SE)
PCP Experience With the Intervention (Down Syndrome Clinic to You)
These measurements were gathered by self-administered mail survey to the PCPs who had patients participating in the Intervention Group. A total of 94 PCPs who had patients in the Intervention Arm responded to this question: "Did [name]'s caregiver give you a copy of the primary care plan before and/or during the wellness visit?" (Note: this survey was not mailed to the PCPs who had patients participating in the Control group as the survey was a measure of experience with the Intervention itself.)

Full Information

First Posted
January 7, 2020
Last Updated
March 10, 2022
Sponsor
Massachusetts General Hospital
Collaborators
Patient-Centered Outcomes Research Institute
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1. Study Identification

Unique Protocol Identification Number
NCT04227197
Brief Title
An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You
Acronym
DSC2U
Official Title
A Randomized, Controlled Trial of an Online Health Tool About Down Syndrome
Study Type
Interventional

2. Study Status

Record Verification Date
March 2022
Overall Recruitment Status
Completed
Study Start Date
October 3, 2017 (Actual)
Primary Completion Date
May 15, 2019 (Actual)
Study Completion Date
May 15, 2019 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Massachusetts General Hospital
Collaborators
Patient-Centered Outcomes Research Institute

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

Brief Summary
The investigators conducted a national two-arm, randomized controlled trial of caregivers of individuals with DS to assess the efficacy of DSC2U in assuring adherence to evidence-based guidelines. The research plan was approved by the Partners Human Research Committee.
Detailed Description
Background: The overwhelming majority of people with Down syndrome do not have access to specialty clinics, a disparity resulting in delayed or missed diagnoses and significant untreated co-morbidities. To meet this critical gap in needs, the investigators created "Down Syndrome Clinic to You" (DSC2U), a novel, web-based tool created for caregivers of individuals with Down syndrome, which generates personalized recommendations for the caregiver and the patient's primary care provider (PCP). Methods: In a national, randomized controlled trial of 230 caregivers who had children or dependents with Down syndrome without access to a Down syndrome specialist, 117 were randomized to receive DSC2U and 113 to receive usual-care. The primary outcome was adherence to five health evaluations indicated by national guidelines for Down syndrome: celiac screen, sleep study, thyroid test, audiogram, and ophthalmology evaluation.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Down Syndrome
Keywords
Online Health Tool, Health evaluations, Celiac Screen, Sleep Study, Thyroid Test, Audiogram, Ophthalmology evaluation, Healthcare outcomes survey, Experience survey

7. Study Design

Primary Purpose
Health Services Research
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Randomized
Enrollment
281 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Intervention Group
Arm Type
Experimental
Arm Description
The participants randomized to the intervention group completed the DSC2U questionnaire, and received online access to a personalized Caregiver Checklist and PCP plan. Caregivers were encouraged to share and discuss the PCP plan at their next wellness visit with the PCPs.
Arm Title
Control Group
Arm Type
No Intervention
Arm Description
The participants randomized to the control group, received usual care for 7 months, after their scheduled PCP appointment. They did not receive DSC2U during these 7 months, but did receive the online, personalized health assessment tool (DSC2U) at the end of the 7 months, after the primary and secondary outcomes were measured.
Intervention Type
Other
Intervention Name(s)
Down Syndrome Clinic to You (DSC2U)
Intervention Description
DSC2U is a web-based tool for families to get up-to-date, personalized health and wellness information, based on national guidelines and expert consensus, for a person with Down syndrome.
Primary Outcome Measure Information:
Title
Number of Participants With Indicated Evaluations That Were Completed or Recommended by the PCP
Description
Adherence to the five health evaluations indicated by national guidelines for Down syndrome. The five health evaluations included: celiac screen, sleep study, thyroid test, audiogram, and ophthalmology evaluation.
Time Frame
7 months after the participant's scheduled PCP visit
Secondary Outcome Measure Information:
Title
Questionnaire: Caregiver Experience With the Intervention
Description
Measure the caregiver experience with the PCP using a 10-point Likert scale with "10" representing "most helpful" and "0" representing "least helpful." This questionnaire was only distributed to those in the Intervention arm because it assessed their experience with the Intervention itself.
Time Frame
2 weeks and 7 months after their scheduled PCP visit and with the intervention
Title
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up
Description
PedsQL 4.0 parent-proxy and PedsQL 2.0 Family Impact Module (https://www.pedsql.org/) were used to assess for qualify of life for people with Down syndrome and their caregivers. Here we report the change from baseline on the subdomains of these assessments. The subdomains on PedsQL 4.0 parent proxy were Psychosocial and Physical. The subdomains on the Family Impact Module (FIM) were Parental and Family scores. For both instruments we also report the total/summary scores. PedsQL scoring instructions were used. These are all scaled from 0 (Low) to 100 (High). Higher scores indicate a better quality of life. Baseline: (Mean±SD); Change: (Mean±SE)
Time Frame
Change from baseline at the 2-week follow-up time point
Title
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up
Description
PedsQL 4.0 parent-proxy and PedsQL 2.0 Family Impact Module (https://www.pedsql.org/) were used to assess for qualify of life for people with Down syndrome and their caregivers. Here we report the change from baseline on the subdomains of these assessments. The subdomains on PedsQL 4.0 parent proxy were Psychosocial and Physical. The subdomains on the Family Impact Module (FIM) were Parental and Family scores. For both instruments we also report the total/summary scores. PedsQL scoring instructions were used. These are all scaled from 0 (Low) to 100 (High). Higher scores indicate a better quality of life. Baseline: (Mean±SD); Change: (Mean±SE)
Time Frame
7-month follow-up survey
Title
PCP Experience With the Intervention (Down Syndrome Clinic to You)
Description
These measurements were gathered by self-administered mail survey to the PCPs who had patients participating in the Intervention Group. A total of 94 PCPs who had patients in the Intervention Arm responded to this question: "Did [name]'s caregiver give you a copy of the primary care plan before and/or during the wellness visit?" (Note: this survey was not mailed to the PCPs who had patients participating in the Control group as the survey was a measure of experience with the Intervention itself.)
Time Frame
2 weeks after the scheduled PCP visit

10. Eligibility

Sex
All
Minimum Age & Unit of Time
1 Year
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Potential eligible participants were directed to the study website (www.dsc2u.org) for the eligibility screening questionnaire in English and Spanish and online consent. After selecting a language preference (English or Spanish), in addition to questions about the child's or dependent's biological sex, race and ethnicity, the eligibility screening questions included: Do you have a child or dependent with DS? Is your child or dependent 1 year or older? When is your child's next annual well visit ("PCP visit")? Does your child or dependent currently receive care at a DS specialty clinic? (If the child or dependent was actively followed in a DS specialty clinic, even one out of state. For example, a family from Arizona who travels to Texas each year for their child to be seen in a DS specialty clinic would be ineligible) Inclusion Criteria: If you have a child or dependent with Down syndrome (DS) If your child or dependent is 1 year or older If your child or dependent is does not receive care at a DS specialty clinic Exclusion Criteria: If your child or dependent does receive care at a DS specialty clinic If your child or dependent is under 1 year old If your child or dependent has a PCP that is already involved in the study DS occurs naturally and proportionally in all races and ethnicities, so the study's population estimates were proportional to the racial/ethnic distribution of the U.S. population, as reported in the 2010 U.S. Census. To achieve commensurate representation in the study, the investigators applied a quota system in offering enrollment using the race and ethnicity of the individual with DS (not the caregiver). The investigators' plan was to enroll participants such that there were: no more than 144 white individuals with DS, no fewer than 25 Hispanic or Latino/Latina individuals with DS, and no fewer than 20 black individuals with DS. The team also planned to enroll no more than 120 individuals with DS of one sex.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Brian G Skotko, MD, MPP
Organizational Affiliation
Massachusetts General Hospital
Official's Role
Principal Investigator
Facility Information:
Facility Name
Massachusetts General Hospital
City
Boston
State/Province
Massachusetts
ZIP/Postal Code
02114
Country
United States

12. IPD Sharing Statement

Plan to Share IPD
Yes
IPD Sharing Plan Description
The investigators will submit their complete data set to PCORI in accordance with their guidelines.
IPD Sharing Time Frame
The investigators will submit to PCORI in accordance with their guidelines, and they will plan to post to their online registry.
IPD Sharing Access Criteria
The study's data set will be accessed through PCORI. Please see further information on the process of accessing the data-set here: https://help.pcori.org/hc/en-us/sections/360000257660-Data-Management-and-Data-Sharing-Policy
IPD Sharing URL
https://www.pcori.org/about-us/governance/policy-data-management-and-data-sharing
Citations:
PubMed Identifier
33511255
Citation
Chung J, Sarathy A, Hsieh YG, Estey G, Torres A, Patsiogiannis V, Donelan K, Skotko BG. Assessment of Stakeholder Engagement in a Down Syndrome Research Study. J Patient Cent Res Rev. 2021 Jan 19;8(1):64-67. doi: 10.17294/2330-0698.1777. eCollection 2021 Winter.
Results Reference
result
PubMed Identifier
32879436
Citation
Chung J, Donelan K, Macklin EA, Schwartz A, Elsharkawi I, Torres A, Hsieh YG, Parker H, Lorenz S, Patsiogiannis V, Santoro SL, Wylie M, Clarke L, Estey G, Baker S, Bauer PE, Bull M, Chicoine B, Cullen S, Frey-Vogel A, Gallagher M, Hasan R, Lamb A, Majewski L, Mast J, Riddell T, Sepucha K, Skavlem M, Skotko BG. A randomized controlled trial of an online health tool about Down syndrome. Genet Med. 2021 Jan;23(1):163-173. doi: 10.1038/s41436-020-00952-7. Epub 2020 Sep 3. Erratum In: Genet Med. 2020 Nov 9;:
Results Reference
result

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An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You

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