A registry for individuals with Down syndrome

DS-Connect®: The Down Syndrome Registry

This study is creating an online registry for people with Down syndrome to share their health information and connect with research opportunities that could improve care and understanding of the condition.

Quick facts

• Study type: Observational
• Enrollment: 100000 (estimated)
• Sex: All
• Sponsor: University of Colorado, Denver (Academic / other)
• Locations: 1 site (Aurora, Colorado)
• Trial ID: NCT01950624 on ClinicalTrials.gov

What this trial studies

DS-Connect® is an online registry designed to collect demographic and health information from individuals with Down syndrome. The registry aims to identify various phenotypic manifestations of Down syndrome and connect individuals with potential research studies or clinical trials based on their health history. By participating, individuals and their families can share valuable insights that contribute to a better understanding of Down syndrome and its co-occurring conditions. This initiative fosters collaboration between the NIH, families, and researchers to enhance the quality of care and research opportunities for this population.

Who should consider this trial

Good fit: Ideal candidates for this registry include individuals of all ages with a diagnosis of Down syndrome, including those who can provide consent or have a legally authorized representative.

Not a fit: Patients who do not have a diagnosis of Down syndrome will not benefit from this registry.

Why it matters

Potential benefit: If successful, this registry could significantly improve research participation and health outcomes for individuals with Down syndrome.

How similar studies have performed: Other similar registries have shown success in enhancing research participation and understanding of genetic conditions, making this approach promising.

Eligibility criteria

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.)

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.

Where this trial is running

Aurora, Colorado

• Linda Crnic Institute for Down Syndrome — Aurora, Colorado, United States (Recruiting)

Study contacts

• Principal investigator: Joaquin M Espinosa, Ph.D. — Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
• Study coordinator: Anne Fiala

Conditions Down Syndrome; Patient Registry; Natural History