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

Last updated: February 27, 2025
Sponsor: New York Stem Cell Foundation Research Institute
Overall Status: Active - Recruiting

Phase

N/A

Condition

Peripheral Neuropathy

Neuropathy

Treatment

Biological Sample Collection

Clinical Study ID

NCT06203093
10-009
  • Ages > 5
  • All Genders
  • Accepts Healthy Volunteers

Study 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 Criteria

Inclusion

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 precludesigning.

  • Minors undergoing skin collection for research purposes must have a CMT diagnosisand must participate with parent/guardian consent.

  • Minors undergoing blood and/or saliva collection for research purposes or whotransfer biological samples from a procedure outside the research may have a CMTdiagnosis or serve as a healthy control and may participate with parent/guardianconsent.

Exclusion

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 thatincrease the risks associated with blood collection.

  • For all prospective sample collections: Subjects who refuse to adhere to NYSCF'sand/or a collaborating site's safety protocols will be excluded. Subjects with anAIDS diagnosis and CD4 count of less than 200 cells per microliter of blood will beexcluded due to increased risk of infection.

Study Design

Total Participants: 50
Treatment Group(s): 1
Primary Treatment: Biological Sample Collection
Phase:
Study Start date:
September 22, 2022
Estimated Completion Date:
September 22, 2025

Study 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 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.

Connect with a study center

  • New York Stem Cell Foundation Research Institute

    New York, New York 10019
    United States

    Active - Recruiting

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