NCT01193075 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
| NCT ID | NCT01193075 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Michael Shy |
| Condition | Charcot Marie Tooth Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 5,000 participants |
| Start Date | 2010-04-01 |
| Primary Completion | 2026-12 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 5,000 participants in total. It began in 2010-04-01 with a primary completion date of 2026-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
This is an observational longitudinal study to determine the natural history and genotype-phenotype correlations of disease causing mutations in Charcot Marie Tooth disease (CMT) type 1B (CMT1B), 2A (CMT2A), 4A (CMT4A), and 4C (CMT4C). The investigators will also be determine the capability of the newly developed CMT Pediatric Scale (CMT Peds scale) and the Minimal Dataset to measure impairment and perform longitudinal measurements in patients with multiple forms of CMT over a five year window
Eligibility Criteria
Inclusion Criteria: All patients must be seen in-person at a participating center for the initial visit. Inclusion Criteria - patients with CMT (all subtypes) 1. Patient has documented, pathogenic or likely pathogenic CMT-causing variant(s) OR 2. Patient has a first- or second-degree family member (parent, child, sibling, half-sibling, aunt, uncle, grandparent, or grandchild) with a documented pathogenic or likely pathogenic CMT-causing variant AND a clear link between that family member and the affected patient AND a phenotype consistent with the diagnosis i. A clear link is necessary for a second-degree relative. For example, if a grandparent is affected and has a pathogenic or likely pathogenic variant, and the parent does not have any signs, symptoms, or electrophysiology consistent with the diagnosis, there is no clear link unless the parent has also been found to have the pathogenic or likely pathogenic variant such as in cases with reduced penetrance ii. In cases where clear links are not available, genetic testing is required for the patient or the family member who is not clearly affected. 3. Patients who have a variant of uncertain significance, as determined by the laboratory performing the testing may still be included if one of the following circumstances applies: i. Variant is categorized as pathogenic or likely pathogenic per the ACMG variant interpretation guidelines. \[80, 81\] ii. Variant has been found in multiple affected people in a family and has not been found in unaffected family members. (Note - both affected and unaffected family members must be tested in this situation to be included). iii. The principal investigator and the site investigator agree that the variant(s) is (are) most likely pathogenic. 4. Patients whose clinical presentation is suggestive of CMT, but CMT type and variant are unknown will be characterized by the following categories: 1. Nerve conduction velocities: demyelinating, axonal, intermediate 2. Inheritance: dominant, recessive, X-linked, or unknown 5. Patient or patient's legally authorized representative has understood and signed an IRB approved consent form for the study. Teenagers (age 13 - 17 years) and cognitively impaired adults who are able to read and write must sign an assent form (depending on local ethics committee requirements). Inclusion Criteria - Controls 1. Person does not have a peripheral neuropathy, as determined by the investigator. 2. Person has understood and signed an IRB approved consent form for the study. Teenagers (age 13-17 years) must sign an assent form (depending on local ethics committee requirements). EXCLUSION CRITERIA 1. Patient has a variant of uncertain significance that cannot be further classified following methods listed in the Inclusion Criteria. 2. Patient does not wish to be a part of the study or has not signed an informed consent form. 3. Patient is deemed inappropriate by the Site PI.
Contact & Investigator
Michael E Shy, MD
PRINCIPAL INVESTIGATOR
University of Iowa
Frequently Asked Questions
Who can join the NCT01193075 clinical trial?
This trial is open to participants of all sexes, studying Charcot Marie Tooth Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT01193075 currently recruiting?
Yes, NCT01193075 is actively recruiting participants. Contact the research team at UICMTClinic@uiowa.edu for enrollment information.
Where is the NCT01193075 trial being conducted?
This trial is being conducted at Los Angeles, United States, Palo Alto, United States, Aurora, United States, Hartford, United States and 11 additional locations.
Who is sponsoring the NCT01193075 clinical trial?
NCT01193075 is sponsored by Michael Shy. The principal investigator is Michael E Shy, MD at University of Iowa. The trial plans to enroll 5,000 participants.