Charcot-Marie-Tooth Disease (CMT) Biological Sample Collection for IPSC Generation and Biobanking

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 role of a cell is called a "gene." If the instructions in a gene are abnormal, this can lead to disease.

Participation in the study involves: (1) completion of health questionnaires, (2) providing a skin and/or blood sample from which stem cells may be created, (3) collection of a saliva sample for genetic analysis, and (4) possible future followup to provide additional information or learn about other research studies.

This study is not a clinical trial.

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.

Exclusion criteria

• Wards of the state.
• For prospective skin samples: history of keloid formation, coagulation disorder, allergy to the anesthetic, or anticoagulation use that precludes sample collection.
• For prospective blood samples: coagulation disorder or other medical conditions that increase the risks associated with blood collection.
• For all prospective sample collections: Subjects who refuse to adhere to NYSCF's and/or a collaborating site's safety protocols will be excluded. Subjects with an AIDS diagnosis and CD4 count of less than 200 cells per microliter of blood will be excluded due to increased risk of infection.