Charcot-Marie-Tooth DiseaseNCT06203093
Charcot-Marie-Tooth Disease (CMT) Biological Sample Collection for IPSC Generation and Biobanking
An observational study of Charcot-Marie-Tooth Disease and Healthy, run by New York Stem Cell Foundation Research Institute at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages 5 years and olderHealthy volunteers can take part
- Conditions the study is for
- Charcot-Marie-Tooth Disease, Healthy
- What is being tested?
- Biological Sample Collection
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 22 Sep 2022to 22 Sep 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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).
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
New York Stem Cell Foundation Research Institute
New York, New York, 10019
Clinical Research Office, 212-927-1801, clinicalresearch@nyscf.org
About this study
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.
Read the 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.
- Conditions
- Charcot-Marie-Tooth Disease, Healthy
- Being tested
- Biological Sample Collection
- Keywords
- Charcot-Marie-Tooth
- Medical subject headings
- Charcot-Marie-Tooth Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Biological Sample CollectionOther
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).
| Study group | Role | What they receive |
|---|---|---|
| Charcot-Marie-Tooth Disease | Subjects in this group will have a diagnosis of Charcot-Marie-Tooth Disease. Receives: Other: Biological Sample Collection | |
| Healthy Control | Subjects in this group will serve as healthy controls. Receives: Other: Biological Sample Collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jan 2024
- Study start22 Sep 2022
- Primary completion22 Sep 2025 (estimated)
- Study completion22 Sep 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Charcot-Marie-Tooth DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- New York Stem Cell Foundation Research Institute
- Sponsor type
- University, hospital or other
- Collaborators
- Charcot-Marie-Tooth Association
- Responsible party
- Sponsor
- Investigators
- Laura Andres-Martin, Principal investigator, New York Stem Cell Foundation Research Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06203093
- Sponsor's protocol ID
- 10-009
- Status last verified
- Jul 2024
- First submitted
- 2 Jan 2024
- Last updated
- 3 Mar 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Charcot-Marie-Tooth Disease (CMT) Biological Sample Collection for IPSC Generation and Biobanking
- ClinicalTrials.gov ID
- NCT06203093
- Acronym / sponsor ID
- 10-009
- Conditions
- Charcot-Marie-Tooth Disease, Healthy
- Keywords
- Charcot-Marie-Tooth
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- New York Stem Cell Foundation Research InstituteUniversity, hospital or other
- Collaborators
- Charcot-Marie-Tooth Association
- Study start
- 22 Sep 2022 (actual)
- Primary completion
- 22 Sep 2025 (estimated)
- Study completion
- 22 Sep 2025 (estimated)
- First posted
- 12 Jan 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Charcot-Marie-Tooth Disease | – | Other: Biological Sample CollectionSubjects in this group will have a diagnosis of Charcot-Marie-Tooth Disease. |
| Healthy Control | – | Other: Biological Sample CollectionSubjects in this group will serve as healthy controls. |
Who may qualify
- Ages
- 5 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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).
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Biological Sample CollectionSkin 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). | Other | Charcot-Marie-Tooth Disease, Healthy Control |
Primary outcome
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.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Mar 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Laura Andres-Martin principal investigator
New York Stem Cell Foundation Research Institute
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Charcot-Marie-Tooth Disease and Healthy, run by New York Stem Cell Foundation Research Institute at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 3 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Clinical Research Office (212-927-1801, clinicalresearch@nyscf.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Biobank (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Mar 2025.