Charcot-Marie-Tooth Disease (CMT) Biological Sample Collection for IPSC Generation and Biobanking
New York Stem Cell Foundation Research Institute
Summary
The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Charcot-Marie-Tooth disease research and drug development by using cells from the body (such as skin or blood cells) to make stem cells and other types of cells, conduct research on the samples, perform genetic testing, and/or store the samples for future use. Through this research, researchers hope to identify future treatments or even cures for Charcot-Marie-Tooth disease.
Description
Researchers at the New York Stem Cell Foundation (NYSCF) Research Institute study diverse diseases, conditions, and traits by creating stem cells from biological samples. These "pluripotent" stem cells can become any cell in the human body, including cells that may be difficult, invasive, or impossible to obtain directly. Additionally, researchers perform genetic testing to learn more about DNA, a material in most cells that contains instructions for the body's development and functions (such as traits like eye color and risk of certain diseases). A piece of DNA that determines the specific r…
Eligibility
- Age range
- 5+ years
- Sex
- All
- Healthy volunteers
- Yes
Inclusion Criteria: * Age 5 years or older. * Diagnosis of Charcot-Marie-Tooth (CMT) disease or healthy controls. * Adults must provide written informed consent unless physical limitations preclude signing. * Minors undergoing skin collection for research purposes must have a CMT diagnosis and must participate with parent/guardian consent. * Minors undergoing blood and/or saliva collection for research purposes or who transfer biological samples from a procedure outside the research may have a CMT diagnosis or serve as a healthy control and may participate with parent/guardian consent. Exclu…
Interventions
- OtherBiological Sample Collection
Skin biopsy (2-3mm) and/or blood (up to 50mL); saliva; excess/leftover biospecimens that were (or will be) collected for other purposes (e.g., medical procedure).
Location
- New York Stem Cell Foundation Research InstituteNew York, New York