iPSC Repository of Pediatric Cardiovascular Disease

Obtain blood samples for generation and maintenance of induced pluripotent stem cells (iPSCs) and genomic/DNA sequencing for biomedical research that will improve the understanding and treatment of pediatric cardiovascular disease

Study Overview

• Status: Recruiting
• Conditions: Heart Diseases; Congenital Heart Disease
• Intervention / Treatment: Procedure: Blood draw

Detailed Description

Human induced pluripotent stem cells (iPSCs) are a type of pluripotent stem cell which can be generated from easily accessible patient cells, such as peripheral blood mononuclear cells and skin fibroblasts. As iPSCs are epigenetically reprogrammed from somatic cells, they retain all genetic information of the affected patients, thus providing an ideal model for studying the contribution of genetic variation to pediatric cardiovascular disease. In addition, human iPSCs can be differentiated into cardiomyocytes, endothelial cells, smooth muscle cells and cardiac fibroblasts, which are major affected cell types in the heart responsible for cardiovascular disease. Therefore, patient-specific iPSCs possess great promise in modeling pediatric cardiovascular disease, discovering novel drugs and prospective cell regeneration therapy.

The DNA from these patients will be analyzed for point mutations, rare sequence variations, single nucleotide polymorphisms in known cardiac development genes or for chromosomal copy number changes by using state of the art genetic approaches.

• Study Type: Observational
• Enrollment (Estimated): 300

Contacts and Locations

• Study Contact: Name: Jade F Hayden, BSN; Phone Number: 16143555648; Email: jade.hayden@nationwidechildrens.org

Study Locations

• United States
  • Ohio
    • Columbus, Ohio, United States, 43205
      • Recruiting
      • Nationwide Children's Hospital
      • Contact: Jade Hayden; Phone Number: 614-355-5648; Email: jade.hayden@nationwidechildrens.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Any individual with or without pediatric cardiovascular disease

Description

Inclusion Criteria:

1. The subjects must have the diagnosis of cardiovascular disease
2. The subject must have a syndrome associated with cardiovascular disease
3. The subject must be related to an individual in cohort 1 or 2
4. The subject is considered a control and does not fall into any of the other cohorts

Exclusion Criteria:

N/A

Study Plan

How is the study designed?

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Affected Subjects; The subjects must have the diagnosis of cardiovascular disease	Procedure: Blood draw; One time intravenous blood draw
Syndromes associated with Cardiovascular Disease; The subject must have a syndrome associated with cardiovascular disease	Procedure: Blood draw; One time intravenous blood draw
Family Members; The subject must be related to an individual in cohort 1 or 2	Procedure: Blood draw; One time intravenous blood draw
Controls; The subject is considered a control and does not fall into any of the other cohorts	Procedure: Blood draw; One time intravenous blood draw

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
improve the understanding and treatment of pediatric cardiovascular disease	This is a repository of blood samples that will be used into the future for medical research to improve the understanding and treatment of pediatric cardiovascular disease	up to 10 Years

Collaborators and Investigators

• Sponsor: Mingtao Zhao

Study record dates

Study Major Dates

• Study Start (Actual): July 2, 2021
• Primary Completion (Estimated): December 31, 2025
• Study Completion (Estimated): December 31, 2025

Study Registration Dates

• First Submitted: August 8, 2022
• First Submitted That Met QC Criteria: September 20, 2022
• First Posted (Actual): September 22, 2022

Study Record Updates

• Last Update Posted (Actual): February 7, 2024
• Last Update Submitted That Met QC Criteria: February 5, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Keywords: iPSC
• Additional Relevant MeSH Terms: Congenital Abnormalities; Cardiovascular Abnormalities; Heart Diseases; Cardiovascular Diseases; Heart Defects, Congenital
• Other Study ID Numbers: STUDY00001788

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Protected health information will only be shared if subjects consent to future research section of informed consent form

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No