Clinical trial NCT04227197: An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You
Official title: A Randomized, Controlled Trial of an Online Health Tool About Down Syndrome
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Down Syndrome
Keywords: Online Health Tool
Health evaluations
Celiac Screen
Sleep Study
Thyroid Test
Audiogram
Ophthalmology evaluation
Healthcare outcomes survey
Experience survey
Lead sponsor: Massachusetts General Hospital
Sponsor class: OTHER
Collaborators: name: Patient-Centered Outcomes Research Institute
First posted: 2020-01-13
Enrollment: 281
Sex: ALL
Minimum age (years): 1
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: RANDOMIZED
Intervention model: PARALLEL
Primary purpose: HEALTH_SERVICES_RESEARCH

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.

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:

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.

Primary outcomes:
measure: Number of Participants With Indicated Evaluations That Were Completed or Recommended by the PCP
timeFrame: 7 months after the participant's scheduled PCP visit
Secondary outcomes:
measure: Questionnaire: Caregiver Experience With the Intervention
timeFrame: 2 weeks and 7 months after their scheduled PCP visit and with the intervention
measure: Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up
timeFrame: Change from baseline at the 2-week follow-up time point
measure: Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up
timeFrame: 7-month follow-up survey
measure: PCP Experience With the Intervention (Down Syndrome Clinic to You)
timeFrame: 2 weeks after the scheduled PCP visit
Other outcomes:
Locations:
city: Boston
country: United States
facility: Massachusetts General Hospital
state: Massachusetts
Study officials:
affiliation: Massachusetts General Hospital
name: Brian G Skotko, MD, MPP
role: PRINCIPAL_INVESTIGATOR
References:
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.
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.