Induced Pluripotent Stem Cells for Disease Research

Hirschsprung Disease Clinical Trial

Official title:

Induced Pluripotent Stem Cells for Disease Research

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04476225
• Other study ID #: 19-27665
• Status: Completed
• Start date: April 15, 2022
• Est. completion date: October 3, 2022

Study information

• Verified date: October 2022
• Source: University of California, San Francisco
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 1
• Est. completion date: October 3, 2022
• Est. primary completion date: October 3, 2022
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 13 Years to 100 Years

Eligibility

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.

Related Conditions & MeSH terms

• Hirschsprung Disease

Locations

Country	Name	City	State
United States	University of California, San Francisco	San Francisco	California

Sponsors (1)

Lead Sponsor	Collaborator
University of California, San Francisco

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Whole blood sample collection	Collect human peripheral blood mononuclear cells (PBMCs) and reprogram into iPSCs.	52 weeks after sample collection
Primary	iPSC disease modeling	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