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

March 21, 2024 updated by: New York Stem Cell Foundation Research Institute

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed 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.

Study Type

Observational

Enrollment (Estimated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Individuals with a Charcot-Marie-Tooth (CMT) diagnosis. Individuals without a condition to serve as healthy controls (a comparison group for CMT subjects).

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Healthy Control
Subjects in this group will serve as healthy controls.
Other: Biological 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).
Charcot-Marie-Tooth Disease
Subjects in this group will have a diagnosis of Charcot-Marie-Tooth Disease.
Other: Biological 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).

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Biobank
Time Frame: Baseline
Establishment of a bank of stem cell lines and associated information to advance understanding of the biology, etiology, manifestations, progression, risk factors, genetic underpinnings, and treatment of Charcot-Marie-Tooth diseases.
Baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

New York Stem Cell Foundation Research Institute

Collaborators

Charcot-Marie-Tooth Association

Investigators

  • Principal Investigator: Lisa Voltolina, New York Stem Cell Foundation Research Institute

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 22, 2022

Primary Completion (Estimated)

September 22, 2025

Study Completion (Estimated)

September 22, 2025

Study Registration Dates

First Submitted

January 2, 2024

First Submitted That Met QC Criteria

January 2, 2024

First Posted (Actual)

January 12, 2024

Study Record Updates

Last Update Posted (Actual)

March 22, 2024

Last Update Submitted That Met QC Criteria

March 21, 2024

Last Verified

January 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 10-009

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Healthy

Clinical Trials on Biological Sample Collection

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Suriname

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe