Down SyndromeHTPNCT02864108
The Human Trisome Project
An observational study of Down Syndrome and Trisomy 21, run by University of Colorado, Denver at 1 site in United States.
Trial summary
The Human Trisome Project will significantly increase the speed of Down syndrome research and the understanding of associated medical conditions. Its biobank will provide de-identified samples to research. Read more about this study
- Who is it for?
- Ages 6 months to 89 yearsHealthy volunteers can take part
- Conditions the study is for
- Down Syndrome, Trisomy 21
- How many people
- 2,500 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2016to Jul 2036
- 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 6 months to 89 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Individuals with Down syndrome, individuals related to someone with Down syndrome or of the general population who do not have a relationship to Down syndrome.
Who may be able to join
- Anyone 6 months to 89 years old who:
- has Down syndrome (any type)
- does not have Down syndrome
Who cannot join
- Prisoners
- Wards of the state
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Constance Brecl, BA contact
United States1 site, 1 recruiting
- Recruiting
Linda Crnic Institute for Down Syndrome at the University of Colorado Denver
Denver, Colorado, 80045
Joaquin Espinosa, PhD
About this study
Official title: Research to Develop the Human Trisome Project Biobank
The Human Trisome Project will significantly increase the speed of Down syndrome research and the understanding of associated medical conditions. Its biobank will provide de-identified samples to research.
Read the detailed description
The purpose of this study is to provide qualified and approved researchers with access to biological samples and health information to answer specific research questions. This project will significantly increase the speed of Down syndrome research and the understanding of associated medical conditions such as Alzheimer's disease, congenital heart defects, autoimmune disorders, autism, and some forms of leukemia.
Participation includes a blood draw, a mouth swab, and allowing researchers to look at your health information yearly for the next 5 years. Optional procedures include providing a urine and/or stool sample and taking part in the study for a longer time frame.
- Conditions
- Down Syndrome, Trisomy 21
- 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 |
|---|---|---|
| Those with trisomy 21 | People aged 6 months to 89 years old who have some form of trisomy 21. | |
| Controls | People aged 6 months to 89 years old who do not have trisomy 21. These persons can be related to someone with some form of trisomy 21 but do not have to be related. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants and Controls Enrolled in Biobank
Create biobank of blood cells and plasma, saliva, mouth swab, urine, stool, and induced pluripotent stem cells (iPSC) cells for use in approved research projects.
Measured: 5 years
Secondary outcomes (2)
Number of Clinical Records Available for Approved Research Purposes
Create a database of clinical information to pair with biological samples listed above.
Measured: 5 years
Multidimensional Sample Characterization
Characterize biological samples with multidimensional cellular and molecular analyses to generate the most thoroughly characterized set of samples from individuals with Down syndrome in the world.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Aug 2016 (estimated)
- Study startJul 2016
- Primary completionJul 2036 (estimated)
- Study completionJul 2036 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- 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
- 2,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Colorado, Denver
- Sponsor type
- University, hospital or other
- Collaborators
- Linda Crnic Institute for Down Syndrome, National Center for Advancing Translational Sciences (NCATS), GLOBAL Down Syndrome Foundation, Anna and John J. Sie Foundation
- Responsible party
- Sponsor
- Investigators
- Joaquin Espinosa, PhD, Principal investigator, Linda Crnic Institute for Down Syndrome at the University of Colorado Denver
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02864108
- Sponsor's protocol ID
- 15-2170
- Other IDs
- UL1TR001082
- Acronym
- HTP
- Status last verified
- Oct 2025
- First submitted
- 21 Jul 2016
- Last updated
- 24 Oct 2025
- Results posted
- No
- Individual data sharing
- No
Publications
Waugh KA, Araya P, Pandey A, Jordan KR, Smith KP, Granrath RE, Khanal S, Butcher ET, Estrada BE, Rachubinski AL, McWilliams JA, Minter R, Dimasi T, Colvin KL, Baturin D, Pham AT, Galbraith MD, Bartsch KW, Yeager ME, Porter CC, Sullivan KD, Hsieh EW, Espinosa JM. Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome. Cell Rep. 2019 Nov 12;29(7):1893-1908.e4. doi: 10.1016/j.celrep.2019.10.038.
PubMed 31722205
Study at a glance
From the registry record, last updated by the sponsor on 24 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Research to Develop the Human Trisome Project Biobank
- ClinicalTrials.gov ID
- NCT02864108
- Acronym / sponsor ID
- HTP / 15-2170
- Conditions
- Down Syndrome, Trisomy 21
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,500 participants (estimated)
- Lead sponsor
- University of Colorado, DenverUniversity, hospital or other
- Collaborators
- Linda Crnic Institute for Down Syndrome, National Center for Advancing Translational Sciences (NCATS), GLOBAL Down Syndrome Foundation, Anna and John J. Sie Foundation
- Study start
- Jul 2016
- Primary completion
- Jul 2036 (estimated)
- Study completion
- Jul 2036 (estimated)
- First posted
- 11 Aug 2016 (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 Human Trisome Project will significantly increase the speed of Down syndrome research and the understanding of associated medical conditions. Its biobank will provide de-identified samples to research.
Detailed description
The purpose of this study is to provide qualified and approved researchers with access to biological samples and health information to answer specific research questions. This project will significantly increase the speed of Down syndrome research and the understanding of associated medical conditions such as Alzheimer's disease, congenital heart defects, autoimmune disorders, autism, and some forms of leukemia.
Participation includes a blood draw, a mouth swab, and allowing researchers to look at your health information yearly for the next 5 years. Optional procedures include providing a urine and/or stool sample and taking part in the study for a longer time frame.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Those with trisomy 21 | – | –People aged 6 months to 89 years old who have some form of trisomy 21. |
| Controls | – | –People aged 6 months to 89 years old who do not have trisomy 21. These persons can be related to someone with some form of trisomy 21 but do not have to be related. |
Who may qualify
- Ages
- 6 months to 89 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with Down syndrome, individuals related to someone with Down syndrome or of the general population who do not have a relationship to Down syndrome.
Key inclusion criteria (3 listed)
- has Down syndrome (any type)
- does not have Down syndrome
Key exclusion criteria (2 listed)
- Prisoners
- Wards of the state
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
Number of Participants and Controls Enrolled in Biobank
Time frame: 5 years
Create biobank of blood cells and plasma, saliva, mouth swab, urine, stool, and induced pluripotent stem cells (iPSC) cells for use in approved research projects.
2 secondary outcomes
Number of Clinical Records Available for Approved Research Purposes
Time frame: 5 years
Multidimensional Sample Characterization
Time frame: 5 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 24 Oct 2025.
- Derived from this study: PubMed 31722205Waugh KA, Araya P, Pandey A, Jordan KR, Smith KP, Granrath RE, Khanal S, Butcher ET, Estrada BE, Rachubinski AL, McWilliams JA, Minter R, Dimasi T, Colvin KL, Baturin D, Pham AT, Galbraith MD, Bartsch KW, Yeager ME, Porter CC, Sullivan KD, Hsieh EW, Espinosa JM. Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome. Cell Rep. 2019 Nov 12;29(7):1893-1908.e4. doi: 10.1016/j.celrep.2019.10.038.
- The Human Trisome Project™Link provided by the sponsor.
- Individual participant dataSharing planned: No
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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.
Constance Brecl, BA contact
Joaquin Espinosa, PhD principal investigator
Linda Crnic Institute for Down Syndrome at the University of Colorado Denver
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 and Trisomy 21, 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 2 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 24 Oct 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 Angela Rachubinski, PhD ((303) 724-7366, dsresearch@cuanschutz.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Participants and Controls Enrolled in Biobank (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02864108, which also lists 1 linked publication.
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 24 Oct 2025.