Not provided
| ID | Type | Description | Link |
|---|---|---|---|
| (PCORI) AD-1507-31567 | Other Grant/Funding Number | Patient-Centered Outcomes Research Institute |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| Patient-Centered Outcomes Research Institute | OTHER |
Not provided
Not provided
Not provided
Not provided
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.
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.
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
|
| 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. |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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. |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | 2 weeks and 7 months after their scheduled PCP visit and with the intervention |
Not provided
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:
Inclusion Criteria:
Exclusion Criteria:
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.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Brian G Skotko, MD, MPP | Massachusetts General Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Massachusetts General Hospital | Boston | Massachusetts | 02114 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 33511255 | Result | 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. | |
| 32879436 | 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. |
Not provided
Not provided
The investigators will submit their complete data set to PCORI in accordance with their guidelines.
The investigators will submit to PCORI in accordance with their guidelines, and they will plan to post to their online registry.
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
We assessed 645 caregivers for eligibility through the study website, and 281 were consented. After consent, there were 51 consented caregivers who were excluded from the study prior to randomization because they did not complete the baseline survey, changed their primary care provider visit to a date outside of the study window, or self-withdrew. As such, 230 caregivers were randomized into assignment groups.
Participants were recruited through online social media postings from MassGeneral Hospital and Down syndrome (DS) non-profit organizations around the U.S. The recruitment period started on October 3, 2017 and end on September 30, 2018. Additional recruitment measures were implemented to enroll a demographically diverse sample. These included contacting minority working groups of DS organizations and translated all recruitment materials in Spanish.
Not provided
| ID | Title | Description |
|---|---|---|
| FG000 | Intervention Group | 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. 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. |
| FG001 | Control Group | 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. |
| Title | Milestones | Reasons Not Completed | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Randomization |
|
| |||||||||||||||||||||
| Primary Care Provider (PCP) Visit |
| ||||||||||||||||||||||
| 2-week Follow-up Survey for Caregivers |
| ||||||||||||||||||||||
| 2-week Follow-up Survey for PCP's |
| ||||||||||||||||||||||
| 7-month Follow-up Survey for Caregivers |
|
Baseline characteristics of people with Down syndrome
Not provided
| ID | Title | Description |
|---|---|---|
| BG000 | Intervention Group | 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. 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. |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Customized | Count of Participants |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | 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. | People with Down syndrome | Posted | Number | participants | 7 months after the participant's scheduled PCP visit |
|
1 year
The participants were not at risk of experiencing Serious Adverse Events or other types of adverse events as the study's intervention did not increase a patient's risk of having an adverse event.
Not provided
| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Intervention Group | 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. 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. |
Not provided
Not provided
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.
| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Brian G Skotko, MD, MPP, Principal Investigator | Massachusetts General Hospital | (617) 643-3196 | bskotko@mgh.harvard.edu |
Not provided
| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot_SAP | Yes | Yes | No | Study Protocol and Statistical Analysis Plan | Feb 28, 2017 | Mar 9, 2021 | Prot_SAP_000.pdf |
Not provided
| ID | Term |
|---|---|
| D004314 | Down Syndrome |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| 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) | 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) | 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.) | 2 weeks after the scheduled PCP visit |
| NOT COMPLETED |
|
|
| NOT COMPLETED |
|
|
| NOT COMPLETED |
|
|
| NOT COMPLETED |
|
|
| BG001 | Control Group | 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. |
| BG002 | Total | Total of all reporting groups |
| Participants |
| No |
|
| Sex: Female, Male | Count of Participants | Participants | No |
|
| Ethnicity (NIH/OMB) | Count of Participants | Participants |
|
| Race (NIH/OMB) | Count of Participants | Participants | No |
|
| Primary health care insurance | Number | Number of participants |
|
| OG001 | Control Group | 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. |
|
|
|
| Secondary | 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. | Of note, the number of analyzed in 7-month follow-up differs from number of analyzed in 2-week follow-up because certain questions were included at the 2-week follow-up survey which were not included in the 7-month follow-up survey. | Posted | Count of Participants | Participants | No | 2 weeks and 7 months after their scheduled PCP visit and with the intervention |
|
|
|
| Secondary | 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) | participants | Posted | Mean | Standard Deviation | score on a scale | Change from baseline at the 2-week follow-up time point |
|
|
|
|
| Secondary | 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) | Participants | Posted | Mean | Standard Deviation | scores on scales | 7-month follow-up survey |
|
|
|
|
| Secondary | 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.) | 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?" | Posted | Count of Participants | Participants | 2 weeks after the scheduled PCP visit |
|
|
|
| 0 |
| 117 |
| 0 |
| 117 |
| 0 |
| 117 |
| EG001 | Control Group | 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. | 0 | 113 | 0 | 113 | 0 | 113 |
Not provided
Not provided
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| Yes, somewhat |
|
| Yes, definitely |
|
| Did the caregiver checklist explain the recommendations in a way that was easy for you to understand |
|
|
| Did you use the links to information that were included in the Caregiver Checklist? |
|
|
| Did you discuss the Caregiver Checklist or any of the recommendations with the [name]? |
|
|
| Would you recommend the Caregiver Checklist to another caregiver? |
|
|
| baseline score on PedsQL Physical |
|
| change from baseline score at 2 weeks on PedsQL Physical Functioning Score |
|
| baseline score on PedsQL Total Scale |
|
| change from baseline score at 2 weeks on PedsQL Total Scale Score |
|
| baseline score for PedsQL FIM Parental |
|
| change in baseline score at 2 weeks on PedsQL FIM Parental HRQL Summary Score |
|
| baseline score on PedsQL FIM Family |
|
| change in baseline score at 2 weeks for PedsQL FIM Family Functioning Summary Score |
|
| baseline score for PedsQL FIM Total Scale Score |
|
| change in baseline score for PedsQL FIM Total Scale Score |
|
This p value is for the PedsQL Physical Functioning Score
| ANOVA |
| 0.802 |
| Superiority |
| This is the p value for the PedsQL Total Scale Score | ANOVA | 0.761 | Superiority |
| This is the p value for the PedsQL FIM Parental HRQL Summary Score | ANOVA | 0.965 | Superiority |
| This is the p value for the PedsQL FIM Family Functioning Summary Score | ANOVA | 0.619 | Superiority |
| This is the p value for the PedsQL FIM Total Scale Score | ANOVA | 0.469 | Superiority |
| baseline for PedsQL Physical Functioning Score |
|
| Change from baseline for PedsQL Physical Functioning Score |
|
| baseline for PedsQL Total |
|
| Change from baseline for PedsQL Total Scale Score |
|
| baseline for PedsQL FIM Parental HRQL Summary Score |
|
| Change from baseline for PedsQL FIM Parental HRQL Summary Score |
|
| baseline for PedsQL FIM Family Functioning Summary Score |
|
| Change from baseline for PedsQL FIM Family Functioning Summary Score |
|
| baseline for PedsQL FIM Total Scale Score |
|
| Change from baseline for PedsQL FIM Total Scale Score |
|
This is for the change from baseline for PedsQL Physical Functioning Score
| ANOVA |
| 0.907 |
| Superiority |
The p value compares the change from baseline on quality of life measures between the Intervention group and Control group |
| This is for the change from baseline for PedsQL Total Scale Score | ANOVA | 0.196 | Superiority | The p value compares the change from baseline on quality of life measures between the Intervention group and Control group |
| This is for the change from baseline for PedsQL FIM Parental HRQL Summary Score | ANOVA | 0.112 | Superiority | The p value compares the change from baseline on quality of life measures between the Intervention group and Control group |
| This is for change from baseline for PedsQL FIM Family Functioning Summary Score | ANOVA | 0.245 | Superiority | The p value compares the change from baseline on quality of life measures between the Intervention group and Control group |
| This is for change from baseline for PedsQL FIM Total Scale Score | ANOVA | 0.219 | Superiority | The p value compares the change from baseline on quality of life measures between the Intervention group and Control group |
| missing |
|