The Crnic Institute Human Trisome Project Biobank (HTP)

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.

Study Overview

• Status: Recruiting
• Conditions: Down Syndrome; Trisomy 21

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 Type: Observational
• Enrollment (Estimated): 2500

Contacts and Locations

• Study Contact: Name: Angela Rachubinski, PhD; Phone Number: (303) 724-7366; Email: dsresearch@cuanschutz.edu
• Study Contact Backup: Name: Belinda Enriquez Estrada, MS; Phone Number: (303) 724-0491; Email: dsresearch@cuanschutz.edu

Study Locations

• United States
  • Colorado
    • Denver, Colorado, United States, 80045
      • Recruiting
      • Linda Crnic Institute for Down Syndrome at the University of Colorado Denver
      • Principal Investigator: Joaquin Espinosa, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 months to 89 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-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.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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 the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of Clinical Records Available for Approved Research Purposes	Create a database of clinical information to pair with biological samples listed above.	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.	5 years

Collaborators and Investigators

• Sponsor: University of Colorado, Denver
• Collaborators: National Center for Advancing Translational Sciences (NCATS); Linda Crnic Institute for Down Syndrome; GLOBAL Down Syndrome Foundation; Anna and John J. Sie Foundation
• Investigators: Principal Investigator: Joaquin Espinosa, PhD, Linda Crnic Institute for Down Syndrome at the University of Colorado Denver

Publications and helpful links

General 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.

Helpful Links

• The Human Trisome Project™

Study record dates

Study Major Dates

• Study Start: July 1, 2016
• Primary Completion (Estimated): July 1, 2036
• Study Completion (Estimated): July 1, 2036

Study Registration Dates

• First Submitted: July 21, 2016
• First Submitted That Met QC Criteria: August 8, 2016
• First Posted (Estimated): August 11, 2016

Study Record Updates

• Last Update Posted (Actual): April 2, 2024
• Last Update Submitted That Met QC Criteria: April 1, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Abnormalities, Multiple; Chromosome Disorders; Chromosome Aberrations; Aneuploidy; Chromosome Duplication; Down Syndrome; Trisomy
• Other Study ID Numbers: 15-2170; UL1TR001082 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO