The Human Trisome Project

NCT ID: NCT02864108

Last Updated: 2025-10-24

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

2500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-07-31

Study Completion Date

2036-07-31

Brief Summary

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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

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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

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Down Syndrome Trisomy 21

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Those with trisomy 21

People aged 6 months to 89 years old who have some form of trisomy 21.

No interventions assigned to this group

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.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

Anyone 6 months to 89 years old who:

1. has Down syndrome (any type)
2. does not have Down syndrome

Exclusion Criteria

1. Prisoners
2. Wards of the state
Minimum Eligible Age

6 Months

Maximum Eligible Age

89 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Linda Crnic Institute for Down Syndrome

UNKNOWN

Sponsor Role collaborator

National Center for Advancing Translational Sciences (NCATS)

NIH

Sponsor Role collaborator

GLOBAL Down Syndrome Foundation

UNKNOWN

Sponsor Role collaborator

Anna and John J. Sie Foundation

UNKNOWN

Sponsor Role collaborator

University of Colorado, Denver

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Joaquin Espinosa, PhD

Role: PRINCIPAL_INVESTIGATOR

Linda Crnic Institute for Down Syndrome at the University of Colorado Denver

Locations

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Linda Crnic Institute for Down Syndrome at the University of Colorado Denver

Denver, Colorado, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Angela Rachubinski, PhD

Role: CONTACT

(303) 724-7366

Constance Brecl, BA

Role: CONTACT

References

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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.

Reference Type DERIVED
PMID: 31722205 (View on PubMed)

Related Links

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http://www.trisome.org

The Human Trisome Projectâ„¢

Other Identifiers

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UL1TR001082

Identifier Type: NIH

Identifier Source: secondary_id

View Link

15-2170

Identifier Type: -

Identifier Source: org_study_id

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