iPSC Repository of Pediatric Cardiovascular Disease

Study Overview
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Brief Summary
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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
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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.

Official Title
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iPSC Repository of Pediatric Cardiovascular Disease

Conditions
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Congenital Heart Disease, Heart Diseases

Intervention / Treatment
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* Procedure: Blood draw


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: The subjects must have the diagnosis of cardiovascular disease The subject must have a syndrome associated with cardiovascular disease The subject must be related to an individual in cohort 1 or 2 The subject is considered a control and does not fall into any of the other cohorts Exclusion Criteria: N/A
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

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

What is the study measuring?
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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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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iPSC