Induced Pluripotent Stem Cells for Disease Research

University of California San Francisco (UCSF)

Status: Completed

Conditions: Hirschsprung Disease

Study type: Observational

Funder types: Other

Identifiers

NCT04476225

19-27665

Details and patient eligibility

About

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.

Enrollment: 1 patient

Sex: All

Ages: 13 to 100 years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

1 participants in 2 patient groups

Individuals with Hirschsprung Disease

Description:

Individuals with Hirschsprung disease

Unaffected Relatives

Description:

Unaffected relatives of individuals with Hirschsprung disease