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Induced Pluripotent Stem Cells for Disease Research

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ClinicalTrials.gov Identifier: NCT04476225
Recruitment Status : Recruiting
First Posted : July 20, 2020
Last Update Posted : January 13, 2021
Sponsor:
Information provided by (Responsible Party):
University of California, San Francisco

Brief Summary:
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.

Condition or disease
Hirschsprung Disease

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Induced Pluripotent Stem Cells for Disease Research
Estimated Study Start Date : January 15, 2021
Estimated Primary Completion Date : March 2023
Estimated Study Completion Date : March 2023


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



Primary Outcome Measures :
  1. Whole blood sample collection [ Time Frame: 52 weeks after sample collection ]
    Collect human peripheral blood mononuclear cells (PBMCs) and reprogram into iPSCs.

  2. 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


Biospecimen Retention:   Samples With DNA
whole blood


Information from the National Library of Medicine

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Ages Eligible for Study:   13 Years to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Individuals with Hirschsprung disease and their unaffacted family members
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04476225


Contacts
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Contact: Steve Finkbeiner, MD, PhD 877-736-3138 steve.finkbeiner@gladstone.ucsf.edu
Contact: Kelley Nelson 877-736-3138 kelley.nelson@gladstone.ucsf.edu

Locations
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United States, California
University of California, San Francisco Recruiting
San Francisco, California, United States, 94158
Contact: Steve Finkbeiner, MD, PhD    877-736-3138    kelley.nelson@gladstone.ucsf.edu   
Sponsors and Collaborators
University of California, San Francisco
Investigators
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Principal Investigator: Steve Finkbeiner, MD, PhD University of California, San Francisco
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Responsible Party: University of California, San Francisco
ClinicalTrials.gov Identifier: NCT04476225    
Other Study ID Numbers: 19-27665
First Posted: July 20, 2020    Key Record Dates
Last Update Posted: January 13, 2021
Last Verified: January 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University of California, San Francisco:
Hirschsprung Disease
Additional relevant MeSH terms:
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Hirschsprung Disease
Digestive System Abnormalities
Digestive System Diseases
Megacolon
Colonic Diseases
Intestinal Diseases
Gastrointestinal Diseases
Congenital Abnormalities