DS-Connect {TM}: The Down Syndrome Registry

DS-Connect (Down Syndrome-Connect): The Down Syndrome Registry

Objective: The development of a patient registry for Down syndrome (DS) was identified as a priority in the 2007 Down Syndrome Research Plan. Under the auspices of the Down Syndrome Consortium, founded in 2011 as a public-private partnership between the NIH and DS advocacy organizations, NICHD awarded a contract in 2012 to create a patient-focused online registry to facilitate research participation by individuals with DS. Two advisory boards, composed of advocates, family members, clinicians, researchers, and other relevant parties, have been involved in the development of the registry materials.

Study Population: Individuals with DS (including those with mosaic DS and partial trisomy 21)

Design: DS-Connect (TM) is an online survey tool designed to collect demographic data and health information from individuals with DS.

Outcome measures: The purposes of DS-Connect (TM) are:

1. To identify the various phenotypic manifestations of DS.
2. To identify individuals with DS who may be eligible for research studies or new clinical trials, based on specific information about their diagnosis and health history.

Study Overview

• Status: Recruiting
• Conditions: Down Syndrome

Detailed Description

Objective: The development of a patient registry for Down syndrome (DS) was identified as a priority in the 2007 Down Syndrome Research Plan. Under the auspices of the Down Syndrome Consortium, founded in 2011 as a public-private partnership between the NIH and DS advocacy organizations, NICHD awarded a contract in 2012 to create a patient-focused online registry to facilitate research participation by individuals with DS. Two advisory boards, composed of advocates, family members, clinicians, researchers, and other relevant parties, have been involved in the development of the registry materials.

Study Population: Individuals with DS (including those with mosaic DS and partial trisomy 21)

Design: DS-Connect (TM) is an online survey tool designed to collect demographic data and health information from individuals with DS.

Outcome measures: The purposes of DS-Connect (TM) are:

1. To identify the various phenotypic manifestations of DS.
2. To identify individuals with DS who may be eligible for research studies or new clinical trials, based on specific information about their diagnosis and health history.

• Study Type: Observational
• Enrollment (Estimated): 100000

Contacts and Locations

• Study Contact: Name: Sujata Bardhan, Ph.D.; Phone Number: (301) 435-0471; Email: sujata.bardhan@nih.gov
• Study Contact Backup: Name: Melissa A Parisi, M.D.; Phone Number: (301) 496-1383; Email: parisima@mail.nih.gov

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • Recruiting
      • National Institute of Child Health and Human Development (NICHD), 9000 Rockville

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 months to 106 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Individuals with DS (including those with mosaic DS and partial trisomy 21) and their siblings for control samples.

Description

• INCLUSION CRITERIA:
• Adults (at least 18 years of age) with a diagnosis of DS (including mosaic DS or partial trisomy 21) who are capable of providing consent to participate, or for whom a legally authorized representative (LAR) may give permission on behalf of the individual to participate. Adults with DS who cannot consent for themselves but can provide assent would need to provide assent to their LAR.
• Children (up to age 18 years of age) with a diagnosis of DS. Parents/guardians may enter registry information and give permission to participate on behalf of their child; if the child is over 7 years of age and able to provide assent, they must do so. (Note: Once a child has reached age 18, he or she will be prompted to re-enroll into the registry as an adult, if he/she is able to provide informed consent or with the consent of his/her LAR if unable to re-enroll themselves.)
• Children with DS (between the ages of 7 and 18 years) will be asked to provide their assent to register.

No individuals with DS will be excluded from taking part in DS-Connect based on age, race, ethnicity, or gender.

EXCLUSION CRITERIA:

• A person who does not have a diagnosis of DS (or mosaic DS or partial trisomy 21)
• Adults with DS who are not capable of providing informed consent or assent to participate and do not have a Legally Authorized Representative who can do so. In the case where an adults with DS is able to provide assent but does not do so, that adult will be excluded.
• A participant, parent, and/or LAR who cannot provide consent or does not read or understand a language that is available for the registry, either English or Spanish.
• A child with DS (between the ages of 7 and 18 years) who is capable of providing assent but does not do so.
• A child under the age of 18 years whose parents share joint custody and one parent indicates that they do not consent to the child s participation.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Cross-Sectional

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Down syndrome cohort; Individuals who have a diagnosis of complete trisomy 21, translocation down syndrome and Mosaic Down syndrome

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
1.To determine the prevalence of the various phenotypic manifestations of DS.2. To identify individuals with DS who may be eligible for research studies or new clinical trials, based on specific information about their diagnosis and health histo...	The purposes of DS-Connect are: 1. To identify the various phenotypic manifestations of DS. 2. To identify individuals with DS who may be eligible for research studies or new clinical trials, based on specific information about their diagnosis and health history.	Ongoing

Secondary Outcome Measures

Outcome Measure	Time Frame
Aggregate data from individuals with DS globally. Enable researchers to use de-identified data to analyze the etiology, natural history, and/or treatment effectiveness in DS. Help medical professionals improve treatments for those with DS.	1 year

Collaborators and Investigators

• Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Investigators: Principal Investigator: Melissa A Parisi, M.D., Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Study record dates

Study Major Dates

• Study Start (Actual): September 6, 2013
• Primary Completion (Estimated): May 26, 2024
• Study Completion: May 26, 2024

Study Registration Dates

• First Submitted: September 21, 2013
• First Submitted That Met QC Criteria: September 21, 2013
• First Posted (Estimated): September 25, 2013

Study Record Updates

• Last Update Posted (Actual): March 26, 2024
• Last Update Submitted That Met QC Criteria: March 23, 2024
• Last Verified: March 12, 2024

More Information

Terms related to this study

• Keywords: Natural History; Down Syndrome; Patient Registry
• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Abnormalities, Multiple; Chromosome Disorders; Syndrome; Down Syndrome
• Other Study ID Numbers: 999913201; 13-CH-N201

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: .The participant data will never be shared outside the registry. Only the de-identified aggregate data will be shared with NICHD approved database such as NICHD DASH (https://dash.nichd.nih.gov/).

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No