DS-Connect®: The Down Syndrome Registry

NCT01950624 | Recruiting

• 2 other identifiers: 24-0396OT2HD117033
• Study Type: observational
• Target: 100,000
• Locations: 1 country
• Sites: 1

Brief Summary

The goal of this study is to develop a registry for Down syndrome (DS) to facilitate research participation by individuals with Down syndrome. DS-Connect® is an online survey tool designed to collect demographic data and health information from individuals with DS. It is open to all people with Down syndrome. The purposes of DS-Connect® are:

1. 1.To identify the various phenotypic manifestations of DS.
2. 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.

Conditions

Down Syndrome

Keywords

Patient Registry; Down Syndrome; Natural History

Outcome Measures

Primary Outcomes (2)

• To determine the prevalence of the various co-occurring conditions in Down syndrome.

  Participants in DS-Connect® will complete health history surveys regarding medical diagnoses and can update the surveys annually or whenever their health changes.

  Through study completion, up to 10 years

• Facilitate participation in research for individuals with DS who may be eligible for research studies or new clinical trials.

  Participants may choose to hear about Down syndrome research studies that may be relevant to their co-occurring conditions.

  Through study completion, up to 10 years

Secondary Outcomes (1)

• Enable aggregate data sharing from individuals with Down syndrome.

  Through study completion, up to 10 years

Study Arms (1)

Down syndrome cohort

Individuals who have a diagnosis of complete trisomy 21, translocation Down syndrome or mosaic Down syndrome.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with DS (including those with mosaic DS and partial trisomy 21).

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Colorado, Denver: lead
• Linda Crnic Institute for Down Syndrome: collaborator
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator

Study Sites (1)

Linda Crnic Institute for Down Syndrome

Aurora, Colorado, 80045, United States

RECRUITING

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

Study Officials

• Joaquin M Espinosa, Ph.D.

  Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Anne Fiala

CONTACT

(303) 724-6599; info@ds-connect.org

Angela Rachubinski, PhD

CONTACT

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 21, 2013
• First Posted: September 25, 2013
• Study Start: September 6, 2013
• Primary Completion (Estimated): June 1, 2035
• Study Completion (Estimated): June 1, 2035
• Last Updated: January 31, 2025

Record last verified: 2025-01

Data Sharing

• IPD Sharing: Will share

Locations

US (1)