Induced Pluripotent Stem Cells for Disease Research

Completed

• Conditions: Hirschsprung Disease

• Registration Number: NCT04476225
• Lead Sponsor: 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.

Detailed Description

Not available

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study First Submitted: 2020-07-14
• Study First Submitted QC: 2020-07-14
• Study First Posted: 2020-07-20
• Study Start: 2022-04-15
• Status Verified: 2022-10
• Primary Completion: 2022-10-03
• Study Completion: 2022-10-03
• Last Update Submitted: 2022-10-04
• Last Update Posted: 2022-10-06

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 1

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

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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.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
iPSC disease modeling	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
Whole blood sample collection	52 weeks after sample collection	Collect human peripheral blood mononuclear cells (PBMCs) and reprogram into iPSCs.

Trial Locations

Locations (1)

University of California, San Francisco; 🇺🇸 San Francisco, California, United States