NCT02864108

Brief 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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
2,500

participants targeted

Target at P75+ for all trials

Timeline
124mo left

Started Jul 2016

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress49%
Jul 2016Jul 2036

Study Start

First participant enrolled

July 1, 2016

Completed
20 days until next milestone

First Submitted

Initial submission to the registry

July 21, 2016

Completed
21 days until next milestone

First Posted

Study publicly available on registry

August 11, 2016

Completed
19.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2036

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2036

Last Updated

October 24, 2025

Status Verified

October 1, 2025

Enrollment Period

20 years

First QC Date

July 21, 2016

Last Update Submit

October 22, 2025

Conditions

Outcome Measures

Primary Outcomes (1)

  • 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.

    5 years

Secondary Outcomes (2)

  • Number of Clinical Records Available for Approved Research Purposes

    5 years

  • Multidimensional Sample Characterization

    5 years

Study Arms (2)

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.

Eligibility Criteria

Age6 Months - 89 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
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.

You may qualify if:

  • Anyone 6 months to 89 years old who:
  • has Down syndrome (any type)
  • does not have Down syndrome

You may not qualify if:

  • Prisoners
  • Wards of the state

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

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

Denver, Colorado, 80045, United States

RECRUITING

Related Publications (1)

  • 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.

Related Links

Biospecimen

Retention: SAMPLES WITH DNA

blood, saliva, mouth swab, urine (optional), stool (optional)

MeSH Terms

Conditions

Down Syndrome

Condition Hierarchy (Ancestors)

Intellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsNervous System DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, Inborn

Study Officials

  • Joaquin Espinosa, PhD

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

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Angela Rachubinski, PhD

CONTACT

Constance Brecl, BA

CONTACT

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 21, 2016

First Posted

August 11, 2016

Study Start

July 1, 2016

Primary Completion (Estimated)

July 1, 2036

Study Completion (Estimated)

July 1, 2036

Last Updated

October 24, 2025

Record last verified: 2025-10

Data Sharing

IPD Sharing
Will not share

Locations