Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| Charcot-Marie-Tooth Association | OTHER |
Not provided
Not provided
Not provided
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.
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.
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Charcot-Marie-Tooth Disease | Subjects in this group will have a diagnosis of Charcot-Marie-Tooth Disease. |
| |
| Healthy Control | Subjects in this group will serve as healthy controls. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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). |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
Not provided
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Individuals with a Charcot-Marie-Tooth (CMT) diagnosis. Individuals without a condition to serve as healthy controls (a comparison group for CMT subjects).
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Clinical Research Office | Contact | 212-927-1801 | clinicalresearch@nyscf.org |
| Name | Affiliation | Role |
|---|---|---|
| Laura Andres-Martin | New York Stem Cell Foundation Research Institute | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| New York Stem Cell Foundation Research Institute | Recruiting | New York | New York | 10019 | United States |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D002607 | Charcot-Marie-Tooth Disease |
| ID | Term |
|---|---|
| D015417 | Hereditary Sensory and Motor Neuropathy |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
Not provided
Not provided
Not provided
Not provided
Not provided
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)
| D019636 | Neurodegenerative Diseases |
| D011115 | Polyneuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |