Induced Pluripotent Stem Cells for Disease Research

NCT ID: NCT04476225

Last Updated: 2022-10-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

1 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-04-15

Study Completion Date

2022-10-03

Brief Summary

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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

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Conditions

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Hirschsprung Disease

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Individuals with Hirschsprung Disease

Individuals with Hirschsprung disease

No interventions assigned to this group

Unaffected Relatives

Unaffected relatives of individuals with Hirschsprung disease

No interventions assigned to this group

Eligibility Criteria

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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.
Minimum Eligible Age

13 Years

Maximum Eligible Age

100 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University of California, San Francisco

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Steve Finkbeiner, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

University of California, San Francisco

Locations

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University of California, San Francisco

San Francisco, California, United States

Site Status

Countries

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United States

Other Identifiers

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19-27665

Identifier Type: -

Identifier Source: org_study_id

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