Down SyndromeDSC2UNCT04227197
An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You
A study testing Down Syndrome Clinic to You (DSC2U) in people with Down Syndrome, run by Massachusetts General Hospital at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 year and olderHealthy volunteers can take part
- Conditions the study is for
- Down Syndrome
- What is being tested?
- Down Syndrome Clinic to You (DSC2U)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 281 participants
- Where
- 1 siteUnited States
- Study dates
- 3 Oct 2017to 15 May 2019
- Phase
- Interventional
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
Massachusetts General Hospital
Boston, Massachusetts, 02114
About this study
Official title: A Randomized, Controlled Trial of an Online Health Tool About Down Syndrome
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.
Read the 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.
- Conditions
- Down Syndrome
- Being tested
- Down Syndrome Clinic to You (DSC2U)
- Keywords
- Online Health Tool, Health evaluations, Celiac Screen, Sleep Study, Thyroid Test, Audiogram, Ophthalmology evaluation, Healthcare outcomes survey, Experience survey
- Medical subject headings
- Down Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 7 months after the participant's scheduled PCP visit
Secondary outcomes (4)
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.
Measured: 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
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)
Measured: Change from baseline at the 2-week follow-up time point
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)
Measured: 7-month follow-up survey
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.)
Measured: 2 weeks after the scheduled PCP visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jan 2020
- Study start3 Oct 2017
- Primary completion15 May 2019
- Study completion15 May 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Down SyndromeStudies of the same condition, open and under way.
- More trials run by Massachusetts General HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Health services research
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 281 participants (actual)
Sponsor and investigators
- Lead sponsor
- Massachusetts General Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Patient-Centered Outcomes Research Institute
- Responsible party
- Principal investigator, Brian G Skotko, Massachusetts General Hospital
- Investigators
- Brian G Skotko, MD, MPP, Principal investigator, Massachusetts General Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04227197
- Sponsor's protocol ID
- 2017P000442.
- Other IDs
- (PCORI) AD-1507-31567
- Acronym
- DSC2U
- Status last verified
- Mar 2022
- First submitted
- 7 Jan 2020
- Last updated
- 14 Jun 2022
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The investigators will submit their complete data set to PCORI in accordance with their guidelines.
Publications
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.
PubMed 33511255Chung 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.
PubMed 32879436
Study at a glance
From the registry record, last updated by the sponsor on 14 Jun 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Randomized, Controlled Trial of an Online Health Tool About Down Syndrome
- ClinicalTrials.gov ID
- NCT04227197
- Acronym / sponsor ID
- DSC2U / 2017P000442.
- Conditions
- Down Syndrome
- Keywords
- Online Health Tool, Health evaluations, Celiac Screen, Sleep Study, Thyroid Test, Audiogram, Ophthalmology evaluation, Healthcare outcomes survey
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 281 participants (actual)
- Lead sponsor
- Massachusetts General HospitalUniversity, hospital or other
- Collaborators
- Patient-Centered Outcomes Research Institute
- Study start
- 3 Oct 2017 (actual)
- Primary completion
- 15 May 2019 (actual)
- Study completion
- 15 May 2019 (actual)
- First posted
- 13 Jan 2020 (actual)
- Results
- Posted 14 Jun 2022
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Health services research
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Intervention Group | Experimental | Other: Down Syndrome Clinic to You (DSC2U)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. |
| 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. |
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (5 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Down Syndrome Clinic to You (DSC2U)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. | Other | Intervention Group |
Primary outcome
Number of Participants With Indicated Evaluations That Were Completed or Recommended by the PCP
Time frame: 7 months after the participant's scheduled PCP visit
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.
4 secondary outcomes
Questionnaire: Caregiver Experience With the Intervention
Time frame: 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
Time frame: Change from baseline at the 2-week follow-up time point
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up
Time frame: 7-month follow-up survey
PCP Experience With the Intervention (Down Syndrome Clinic to You)
Time frame: 2 weeks after the scheduled PCP visit
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Jun 2022.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Results publication: PubMed 33511255Chung 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 publication: PubMed 32879436Chung 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.
- Individual participant dataSharing planned: Yes. The investigators will submit their complete data set to PCORI in accordance with their guidelines.
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Down Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Brian G Skotko, MD, MPP principal investigator
Massachusetts General Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Down Syndrome Clinic to You (DSC2U) in people with Down Syndrome, run by Massachusetts General Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 14 Jun 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 14 Jun 2022). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Participants With Indicated Evaluations That Were Completed or Recommended by the PCP (time frame: 7 months after the participant's scheduled PCP visit). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04227197, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Jun 2022.