IPSC Repository of Pediatric Cardiovascular Disease

Recruiting

• Conditions: Congenital Heart Disease; Heart Diseases
• Interventions: Procedure: Blood draw

• Registration Number: NCT05550324
• Lead Sponsor: Mingtao Zhao

Brief Summary

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

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 Timeline

• Study Start: 2021-07-02
• Study First Submitted: 2022-08-08
• Study First Submitted QC: 2022-09-20
• Study First Posted: 2022-09-22
• Status Verified: 2024-02
• Last Update Submitted: 2025-02-22
• Last Update Posted: 2025-02-25
• Primary Completion: 2030-12-31
• Study Completion: 2030-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 300

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

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

Primary Outcome Measures

Name	Time	Method
improve the understanding and treatment of pediatric cardiovascular disease	up to 10 Years	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

Trial Locations

Locations (1)

Nationwide Children's Hospital; 🇺🇸 Columbus, Ohio, United States