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

NCT04227197 | Completed Results

• 2 other identifiers: 2017P000442.(PCORI) AD-1507-31567
• Study Type: interventional
• Target: 281
• Locations: 1 country
• Sites: 1

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.

Conditions

Down Syndrome

Keywords

Online Health Tool; Health evaluations; Celiac Screen; Sleep Study; Thyroid Test; Audiogram; Ophthalmology evaluation; Healthcare outcomes survey; Experience survey

Outcome Measures

Primary Outcomes (1)

• 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.

  7 months after the participant's scheduled PCP visit

Secondary Outcomes (4)

• Questionnaire: Caregiver Experience With the Intervention

  2 weeks and 7 months after their scheduled PCP visit and with the intervention

• Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up

  Change from baseline at the 2-week follow-up time point

• Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up

  7-month follow-up survey

• PCP Experience With the Intervention (Down Syndrome Clinic to You)

  2 weeks after the scheduled PCP visit

Study Arms (2)

Intervention Group

EXPERIMENTAL

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.

Other: Down Syndrome Clinic to You (DSC2U)

Control Group

NO INTERVENTION

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.

Interventions

Down Syndrome Clinic to You (DSC2U) OTHER

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.

Intervention Group

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Massachusetts General Hospital: lead
• Patient-Centered Outcomes Research Institute: collaborator

Study Sites (1)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

Related Publications (2)

• 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.

  PMID: 33511255 RESULT

• 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.

  PMID: 32879436 RESULT

MeSH Terms

Conditions

Down Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn

Limitations and Caveats

We know that Down syndrome naturally occurs equally in all races and ethnicities, regardless of socioeconomic status. We were unable to achieve our targeted enrollment goal for black participants.

Results Point of Contact

• Title: Brian G Skotko, MD, MPP, Principal Investigator
• Organization: Massachusetts General Hospital

bskotko@mgh.harvard.edu

(617) 643-3196

Study Officials

• Brian G Skotko, MD, MPP

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director, Down Syndrome Program

Study Record Dates

• First Submitted: January 7, 2020
• First Posted: January 13, 2020
• Study Start: October 3, 2017
• Primary Completion: May 15, 2019
• Study Completion: May 15, 2019
• Last Updated: June 14, 2022
• Results First Posted: June 14, 2022

Record last verified: 2022-03

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR, ANALYTIC CODE
• Time Frame: The investigators will submit to PCORI in accordance with their guidelines, and they will plan to post to their online registry.
• 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

Locations

US (1)