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

NCT06203093 | Recruiting

• 1 other identifier: 10-009
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Charcot-Marie-Tooth Disease; Healthy

Keywords

Charcot-Marie-Tooth

Outcome Measures

Primary Outcomes (1)

• Biobank

  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

Study Arms (2)

Charcot-Marie-Tooth Disease

Subjects in this group will have a diagnosis of Charcot-Marie-Tooth Disease.

Other: Biological Sample Collection

Healthy Control

Subjects in this group will serve as healthy controls.

Other: Biological Sample Collection

Interventions

Biological Sample Collection OTHER

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; Healthy Control

Eligibility Criteria

• Age: 5 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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).

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• New York Stem Cell Foundation Research Institute: lead
• Charcot-Marie-Tooth Association: collaborator

Study Sites (1)

New York Stem Cell Foundation Research Institute

New York, New York, 10019, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Skin biopsy (2-3mm) and/or blood (up to 50 mL); saliva; excess/leftover biospecimens that were (or will be) collected for other purposes (e.g., medical procedure)

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Laura Andres-Martin

  New York Stem Cell Foundation Research Institute

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Clinical Research Office

CONTACT

212-927-1801; clinicalresearch@nyscf.org

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 2, 2024
• First Posted: January 12, 2024
• Study Start: September 22, 2022
• Primary Completion: September 22, 2025
• Study Completion: September 22, 2025
• Last Updated: March 3, 2025

Record last verified: 2024-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)