Induced Pluripotent Stem Cells for Disease Research

NCT04476225 | Completed

• 1 other identifier: 19-27665
• Study Type: observational
• Target: 1
• Locations: 1 country
• Sites: 1

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.

Conditions

Hirschsprung Disease

Keywords

Hirschsprung Disease

Outcome Measures

Primary Outcomes (2)

• Whole blood sample collection

  Collect human peripheral blood mononuclear cells (PBMCs) and reprogram into iPSCs.

  52 weeks after sample collection

• 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

Study Arms (2)

Individuals with Hirschsprung Disease

Individuals with Hirschsprung disease

Unaffected Relatives

Unaffected relatives of individuals with Hirschsprung disease

Eligibility Criteria

• Age: 13 Years - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with Hirschsprung disease and their unaffacted family members

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of California, San Francisco: lead

Study Sites (1)

University of California, San Francisco

San Francisco, California, 94158, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

whole blood

MeSH Terms

Conditions

Hirschsprung Disease

Condition Hierarchy (Ancestors)

Digestive System Abnormalities; Digestive System Diseases; Megacolon; Colonic Diseases; Intestinal Diseases; Gastrointestinal Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Steve Finkbeiner, MD, PhD

  University of California, San Francisco

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 14, 2020
• First Posted: July 20, 2020
• Study Start: April 15, 2022
• Primary Completion: October 3, 2022
• Study Completion: October 3, 2022
• Last Updated: October 6, 2022

Record last verified: 2022-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)