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The goal of this Natural History Study for Charcot-Marie-Tooth is to acquire, record, and analyze patient-reported data and associated genetic reports, Electronic Health Records (EHRs) and clinical notes to identify the burden, diagnostic journey, and prevalence of disease that will aid scientists in their work toward finding a cure.
Participants will be asked to complete a Natural History Survey.
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| Measure | Description | Time Frame |
|---|---|---|
| Identify the type of CMT | Patient-Reported Outcomes depending on individual experience I.e. Genetic testing, clinical observation, EMG, family history. | 156 weeks |
| Disease Symptoms | Patient-Reported Observations | 156 weeks |
| Impact of symptoms on Activities of Daily Living | Patient-Reported Observations | 156 weeks |
| Associated Comorbidities | Patient-Reported Observations | 156 weeks |
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Inclusion Criteria:
Patients will be made aware of the study by HNF and others (referenced above) and invited to participate. Once patients have reviewed and signed electronically the informed consent document, it is attached to their file.
All affected individuals with CMT/IN are eligible to participate in GRIN with proper informed consent.
Children, adolescents and adults with either a confirmed diagnosis or suspected to have CMT/IN are eligible with parent and/or guardian consent.
Individuals that have been clinically diagnosed through family history and/or standard clinical testing (e.g. neuro exam, EMG, NCS) and/or genetically tested or suspected to have CMT/IN (note: many mutations have not been identified yet) are eligible.
Exclusion Criteria:
People that do not have Charcot-Marie-Tooth or other Inherited Neuropathies
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This study is open to anyone that has Charcot-Marie-Tooth Disease or other Inherited Neuropathies.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Allison Moore | Contact | 212-722-8396 | allison@hnf-cure.org | |
| Joy Aldrich | Contact | 212-722-8396 | JoyAldrich@hnf-cure.org |
| Name | Affiliation | Role |
|---|---|---|
| Allison Moore | Hereditary Neuropathy Foundation | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hereditary Neuropathy Foundation | Recruiting | New York | New York | 10128 | United States |
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| Label | URL |
|---|---|
| Landing page and entry for patients to participate in the Global Registry for Inherited Neuropathies | View source |
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| ID | Term |
|---|---|
| D002607 | Charcot-Marie-Tooth Disease |
| C537988 | Charcot-Marie-Tooth disease, Type 2A |
| C537992 | Charcot-Marie-Tooth disease, Type 2C |
| C537991 | Charcot-Marie-Tooth disease, Type 2B2 |
| C566138 | Charcot-Marie-Tooth Disease, Axonal, Type 2a1 |
| C535420 | Charcot-Marie-Tooth disease, Type 4B1 |
| C535898 | Limb-girdle muscular dystrophy, type 1B |
| D004194 | Disease |
| C535419 | Charcot-Marie-Tooth disease, Type 4A |
| C539595 | Charcot-Marie-Tooth disease, Type 4A, axonal form |
| C563757 | Charcot-Marie-Tooth Disease, Axonal, Type 2A2 |
| C538078 | Charcot-Marie-Tooth disease and deafness |
| C535421 | Charcot-Marie-Tooth disease, Type 4B2 |
| C563740 | Charcot-Marie-Tooth Disease, Type 4H |
| C537987 | Charcot-Marie-Tooth disease, Type 1F |
| C535423 | Charcot-Marie-Tooth disease, Type 4C |
| C535301 | Charcot-Marie-Tooth disease, Type 4E |
| C537985 | Charcot-Marie-Tooth disease, Type 1D |
| C567653 | Charcot-Marie-Tooth Disease, Axonal, Type 2n |
| C537993 | Charcot-Marie-Tooth disease, Type 2D |
| C535716 | Neuropathy, hereditary motor and sensory, LOM type |
| C535418 | Charcot-Marie-Tooth disease, Type 2K |
| C535416 | Charcot-Marie-Tooth disease, Type 2I |
| C535417 | Charcot-Marie-Tooth disease, Type 2J |
| C537994 | Charcot-Marie-Tooth disease, Type 2E |
| C535415 | Charcot-Marie-Tooth disease, Type 2H |
| C537984 | Charcot-Marie-Tooth disease, Type 1C |
| D010523 | Peripheral Nervous System Diseases |
| ID | Term |
|---|---|
| D015417 | Hereditary Sensory and Motor Neuropathy |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D011115 | Polyneuropathies |
| D009468 | Neuromuscular Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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