Induced Pluripotent Stem Cells for Disease Research

October 4, 2022 updated by: University of California, San Francisco
The aim of this study is to determine the contribution of genetic factors to the pathogenesis of diseases, including diseases such as Parkinson's disease, Hirschsprung's disease, and autism. Patient-derived cellular models of diseases will be developed, which will require the collection of blood samples from patients and healthy individuals in order to generate induced pluripotent stem cells (iPSCs) for the development of iPSC-derived human cell cultures. These human cellular models will be phenotyped using a variety of methods, including cellular, molecular, and biochemical assays. Because these human cellular models will retain the genetic background from the patients and control subjects, this will allow us to determine the contribution of genetics to disease phenotypes. Such disease-specific pluripotent stem cell lines will be invaluable tools for many basic and translational research applications, including pathophysiological studies in a developmental context, and innovation and screening of small molecule drugs capable of reversing the disease phenotype and potentially leading to a cure for a broad range of diseases, where appropriate in vitro or in vivo disease models do not exist.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

1

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • California
      • San Francisco, California, United States, 94158
        • University of California, San Francisco

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

13 years to 100 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Individuals with Hirschsprung disease and their unaffacted family members

Description

Inclusion Criteria:

  • Individuals with Hirschsprung disease
  • Any disease severity accepted
  • Individuals with or without other health issues accepted
  • Unaffected / healthy relatives of individuals with Hirschsprung disease

Exclusion Criteria:

  • Individuals who are unwilling or unable to provide blood sample
  • Individuals who are unwilling or unable to provide informed consent
  • Individuals who are outside the age range permitted for our study will be excluded. Our study will only perform blood draws from individuals ages 13 and above.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort
Individuals with Hirschsprung Disease
Individuals with Hirschsprung disease
Unaffected Relatives
Unaffected relatives of individuals with Hirschsprung disease

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Whole blood sample collection
Time Frame: 52 weeks after sample collection
Collect human peripheral blood mononuclear cells (PBMCs) and reprogram into iPSCs.
52 weeks after sample collection
iPSC disease modeling
Time Frame: 200 weeks after sample collection
Use patient-derived iPSCs to develop models of human diseases and to determine the contribution of patient genetic factors to disease pathogenesis
200 weeks after sample collection

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of California, San Francisco

Investigators

  • Principal Investigator: Steve Finkbeiner, MD, PhD, University of California, San Francisco

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 15, 2022

Primary Completion (Actual)

October 3, 2022

Study Completion (Actual)

October 3, 2022

Study Registration Dates

First Submitted

July 14, 2020

First Submitted That Met QC Criteria

July 14, 2020

First Posted (Actual)

July 20, 2020

Study Record Updates

Last Update Posted (Actual)

October 6, 2022

Last Update Submitted That Met QC Criteria

October 4, 2022

Last Verified

October 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 19-27665

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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