RecruitingNCT06203093

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


Sponsor

New York Stem Cell Foundation Research Institute

Enrollment

50 participants

Start Date

Sep 22, 2022

Study Type

OBSERVATIONAL

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.


Eligibility

Min Age: 5 Years

Inclusion Criteria5

  • 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 Criteria4

  • 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.

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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).


Locations(1)

New York Stem Cell Foundation Research Institute

New York, New York, United States

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NCT06203093