Collection of biological samples for Charcot-Marie-Tooth disease research

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

New York Stem Cell Foundation Research Institute · NCT06203093

This study is collecting samples from people with Charcot-Marie-Tooth disease and healthy individuals to create stem cells that will help researchers learn more about the disease and find better treatments.

Quick facts

Study typeObservational
Enrollment50 (estimated)
Ages5 Years and up
SexAll
SponsorNew York Stem Cell Foundation Research Institute (other)
Locations1 site (New York, New York)
Trial IDNCT06203093 on ClinicalTrials.gov

What this trial studies

This research involves collecting biological samples from individuals diagnosed with Charcot-Marie-Tooth disease and healthy controls to generate induced pluripotent stem cells (iPSCs). These stem cells can differentiate into various cell types, allowing researchers to conduct genetic testing and study the disease mechanisms. Participants will complete health questionnaires and provide skin, blood, and saliva samples for analysis and future research. The goal is to accelerate the understanding and treatment of Charcot-Marie-Tooth disease.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 5 years or older with a diagnosis of Charcot-Marie-Tooth disease or healthy controls.

Not a fit: Patients who are wards of the state or have certain medical conditions that complicate sample collection may not benefit from this study.

Why it matters

Potential benefit: If successful, this research could lead to the identification of new treatments or cures for Charcot-Marie-Tooth disease.

How similar studies have performed: Other studies using similar approaches to generate stem cells from biological samples have shown promise in advancing research and treatment options.

Eligibility criteria

Show full inclusion / exclusion criteria
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.

Where this trial is running

New York, New York

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.

View on ClinicalTrials.gov →

Conditions: Charcot-Marie-Tooth Disease, Healthy, Charcot-Marie-Tooth

Last reviewed 2026-05-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.