Patient and Disease-Specific Stem Cells For Preclinical Drug Discovery For Genetic Diseases
Abstract: The goal of this research study is to create a biobank of patient and disease-specific induced pluripotent stem (IPS) cells derived from patients with genetic diseases. The long-term goal of this biobank is to create "disease in a dish" models for screening drugs to identify lead therapeutics that could be advanced towards clinical trials. To achieve that end, the objective of this study is to genetically manipulate special blood cells from a simple phlebotomy (~ 2 tablespoon of whole blood) in patients with genetic disease. These final stem cells will then be used for a variety of commercial and non-commercial biomedical research.
We will also need to obtain medical records from patient's physicians to verify that the patients meet the clinical research criteria. If a lead drug is ultimately identified, the recruited patient may also be recruited in the future to participate in a clinical trial. As a disclaimer, the research is not intended as a diagnostic test or to dictate medical therapy offered by the patient's physician. Patient information will be maintained private and secure and will not be released to any third party.
The research will result in a database of clinical information that describes the clinical attributes of patients without identifying the patient's name or contact information. The clinical data would include relevant medical information that includes a patient's medical history, diagnostic tests and therapeutic outcomes to existing FDA approved and experimental drugs. The Institute will enter the data on a computerized system, which would reflect a comprehensive database of clinical information and biological data for the purpose of performing drug discovery.
Patients of all ages, sex and race and country provided that a phlebotomy can be performed in a subject's location.
Capable of providing informed consent.
Patients should have a genetic disease.
Patients willing to provide medical records.
Research subjects can download and review the consent form of this study. To download the consent form, click here.