IPSC Repository of Pediatric Cardiovascular Disease

Mingtao Zhao

Status: Enrolling

Conditions: Congenital Heart Disease; Heart Diseases

Treatments: Procedure: Blood draw

Study type: Observational

Funder types: Other

Identifiers

NCT05550324

STUDY00001788

Details and patient eligibility

About

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

Full 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.

Enrollment: 300 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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

Trial design

300 participants in 4 patient groups

Affected Subjects

Description:

The subjects must have the diagnosis of cardiovascular disease

Treatment:

Procedure: Blood draw

Syndromes associated with Cardiovascular Disease

Description:

The subject must have a syndrome associated with cardiovascular disease

Treatment:

Procedure: Blood draw

Family Members

Description:

The subject must be related to an individual in cohort 1 or 2

Treatment:

Procedure: Blood draw

Controls

Description:

The subject is considered a control and does not fall into any of the other cohorts

Treatment:

Procedure: Blood draw