Down SyndromeNCT01950624
DS-Connect®: The Down Syndrome Registry
An observational study of Down Syndrome, run by University of Colorado, Denver at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Down Syndrome
- How many people
- 100,000 participants
- Where
- 1 siteUnited States
- Study dates
- 6 Sep 2013to Jun 2035
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with DS (including those with mosaic DS and partial trisomy 21).
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Angela Rachubinski, PhD contact
United States1 site, 1 recruiting
- Recruiting
Linda Crnic Institute for Down Syndrome
Aurora, Colorado, 80045
Anne Fiala, 303-724-6599, info@ds-connect.org
About this study
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:
- To identify the various phenotypic manifestations of DS.
- 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.
Read the detailed description
The DS-Connect® Registry is a unique resource that enables communication and sharing of ideas among the NIH, individuals with DS and their families, national and international organizations interested in DS, and a diverse group of professionals involved in scientific research and medical care benefiting the population with DS. By providing information on their demographics, health histories, medications, and other relevant biomedical information, self-advocates and their families provide an unprecedented view of this genetic condition that can inspire new scientific inquiries, clinical research, and clinical trials specifically serving this population. For example, the DS-Connect® dataset has led to an increasing appreciation of the prevalence of many co-occurring conditions affecting individuals with DS across the lifespan, thus providing the rationale for the launch of the NIH INCLUDE Project (INvestigation of Co-occurring conditions across the Lifespan to Understand Down SyndromE). Conversely, self-advocates and their families participating in DS-Connect® benefit in several ways, including valuable comparison of their health histories with metrics from the entire cohort, access to key resources (e.g., list of active clinical trials), as well as opportunities for participation in human research protocols, including clinical trials testing new interventions to address diverse aspects of this condition. In turn, the DS-Connect® dataset informs both NIH and the research community on the need to support specific research areas, while also providing an avenue for researchers to promote recruitment into their studies. Altogether, DS-Connect® provides a multimodal platform for exchange of information and ideas across all key stakeholders, assuring that scientific research in this field is attuned to the needs of the community.
A person with DS or a family member or caregiver can register directly through the DS-Connect® website at their convenience. They may learn of the Registry from many sources including partner advocacy groups, government and healthcare organizations, or other families who are members in the Registry. The DS-Connect® platform readily captures participant information using condition-specific surveys.
All information is provided by the participant or representative for the participant via the web-based Registry. There are no in-person visits required for registration.
- Conditions
- Down Syndrome
- Keywords
- Patient Registry, Down Syndrome, Natural History
- Medical subject headings
- Down Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Down syndrome cohort | Individuals who have a diagnosis of complete trisomy 21, translocation Down syndrome or mosaic Down syndrome. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: Through study completion, up to 10 years
Secondary outcomes (1)
Enable aggregate data sharing from individuals with Down syndrome.
Consented individuals will have their de-identified data shared with the INCLUDE Data Hub to enable researchers to understand etiology, natural history, and/or treatment effectiveness in Down syndrome.
Measured: Through study completion, up to 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Sep 2013 (estimated)
- Study start6 Sep 2013
- Primary completionJun 2035 (estimated)
- Study completionJun 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Down SyndromeStudies of the same condition, open and under way.
- More trials run by University of Colorado, DenverThe 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100,000 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- University of Colorado, Denver
- Sponsor type
- University, hospital or other
- Collaborators
- Linda Crnic Institute for Down Syndrome, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Responsible party
- Sponsor
- Investigators
- Joaquin M Espinosa, Ph.D., Principal investigator, Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01950624
- Sponsor's protocol ID
- 24-0396
- Other IDs
- OT2HD117033
- Status last verified
- Jan 2025
- First submitted
- 21 Sep 2013
- Last updated
- 31 Jan 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: IPD will be available to other researchers through the INCLUDE Data Hub.
Study at a glance
From the registry record, last updated by the sponsor on 31 Jan 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- DS-Connect®: The Down Syndrome Registry
- ClinicalTrials.gov ID
- NCT01950624
- Acronym / sponsor ID
- 24-0396
- Conditions
- Down Syndrome
- Keywords
- Patient Registry, Down Syndrome, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100,000 participants (estimated)
- Lead sponsor
- University of Colorado, DenverUniversity, hospital or other
- Collaborators
- Linda Crnic Institute for Down Syndrome, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study start
- 6 Sep 2013 (actual)
- Primary completion
- Jun 2035 (estimated)
- Study completion
- Jun 2035 (estimated)
- First posted
- 25 Sep 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- To identify the various phenotypic manifestations of DS.
- 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.
Detailed description
The DS-Connect® Registry is a unique resource that enables communication and sharing of ideas among the NIH, individuals with DS and their families, national and international organizations interested in DS, and a diverse group of professionals involved in scientific research and medical care benefiting the population with DS. By providing information on their demographics, health histories, medications, and other relevant biomedical information, self-advocates and their families provide an unprecedented view of this genetic condition that can inspire new scientific inquiries, clinical research, and clinical trials specifically serving this population. For example, the DS-Connect® dataset has led to an increasing appreciation of the prevalence of many co-occurring conditions affecting individuals with DS across the lifespan, thus providing the rationale for the launch of the NIH INCLUDE Project (INvestigation of Co-occurring conditions across the Lifespan to Understand Down SyndromE). Conversely, self-advocates and their families participating in DS-Connect® benefit in several ways, including valuable comparison of their health histories with metrics from the entire cohort, access to key resources (e.g., list of active clinical trials), as well as opportunities for participation in human research protocols, including clinical trials testing new interventions to address diverse aspects of this condition. In turn, the DS-Connect® dataset informs both NIH and the research community on the need to support specific research areas, while also providing an avenue for researchers to promote recruitment into their studies. Altogether, DS-Connect® provides a multimodal platform for exchange of information and ideas across all key stakeholders, assuring that scientific research in this field is attuned to the needs of the community.
A person with DS or a family member or caregiver can register directly through the DS-Connect® website at their convenience. They may learn of the Registry from many sources including partner advocacy groups, government and healthcare organizations, or other families who are members in the Registry. The DS-Connect® platform readily captures participant information using condition-specific surveys.
All information is provided by the participant or representative for the participant via the web-based Registry. There are no in-person visits required for registration.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Down syndrome cohort | – | –Individuals who have a diagnosis of complete trisomy 21, translocation Down syndrome or mosaic Down syndrome. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with DS (including those with mosaic DS and partial trisomy 21).
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (5 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To determine the prevalence of the various co-occurring conditions in Down syndrome.
Time frame: Through study completion, up to 10 years
Participants in DS-Connect® will complete health history surveys regarding medical diagnoses and can update the surveys annually or whenever their health changes.
Facilitate participation in research for individuals with DS who may be eligible for research studies or new clinical trials.
Time frame: Through study completion, up to 10 years
Participants may choose to hear about Down syndrome research studies that may be relevant to their co-occurring conditions.
1 secondary outcome
Enable aggregate data sharing from individuals with Down syndrome.
Time frame: Through study completion, up to 10 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Jan 2025.
- Individual participant dataSharing planned: Yes. IPD will be available to other researchers through the INCLUDE Data Hub.
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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.
Angela Rachubinski, PhD contact
Joaquin M Espinosa, Ph.D. principal investigator
Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Down Syndrome, run by University of Colorado, Denver 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: looking for participants now, as of the sponsor's last update on 31 Jan 2025. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Anne Fiala ((303) 724-6599, info@ds-connect.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To determine the prevalence of the various co-occurring conditions in Down syndrome. (time frame: Through study completion, up to 10 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 31 Jan 2025.