Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
Part of paid clinical trials in Los Angeles, California.
- Sponsor
- Michael Shy
- Study ID
- NCT01193075
- Status
- Recruiting
Conditions
- Charcot Marie Tooth Disease
Eligibility Criteria
- Sex
- ALL
- Age
- N/A - N/A
- Healthy Volunteers
- Accepted
Study Details
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
Key Dates
- Start date
- Apr 1, 2010
- Status verified
- May 2024
- Primary completion
- Dec 31, 2026
- Completion
- Dec 31, 2026
Study Design
- Enrollment
- 5,000 participants (estimated)
Arms
- Arm: CMT1BFamilies/patients with genetically confirmed CMT1B
- Arm: CMT2AFamilies/patients with genetically confirmed CMT2A
- Arm: CMT4AFamilies/patients with genetically confirmed CMT4A
- Arm: CMT4CFamilies/patients with genetically confirmed CMT4C
- Arm: All other CMTFamilies/patients with all other forms of CMT or CMT that has not yet been genetically identified
Primary Outcome Measure
Charcot Marie Tooth Neuropathy Score (CMTNS) [ Time Frame: 1 year ]
Central Contacts
- Nicole M Kressin, MSN, RN319-384-6362
- Tiffany Grider, MS, CGC319-384-6362
Locations (18)
| Facility | City | State | ZIP | Site coordinators |
|---|---|---|---|---|
| Cedars-Sinai Medical Center | Los Angeles | California | 90048 | Richard A Lewis, MD (PRINCIPAL_INVESTIGATOR) |
| Stanford University | Palo Alto | California | 94305 | John Day, MD, PhD (PRINCIPAL_INVESTIGATOR) |
| University of Colorado Hospital | Aurora | Colorado | 80045 | Vera Fridman, MD (PRINCIPAL_INVESTIGATOR) |
| University of Connecticut/Connecticut Children's Medical Center | Hartford | Connecticut | 06106 | Gyula Acsadi, MD, PhD (PRINCIPAL_INVESTIGATOR) |
| Children's National Hospital | Washington D.C. | District of Columbia | 20010 | Diana Bharucha-Goebel, MD (PRINCIPAL_INVESTIGATOR) |
| University of Miami | Miami | Florida | 33136 | Stephan Zuchner, MD (PRINCIPAL_INVESTIGATOR) Mario Saporta, MD (PRINCIPAL_INVESTIGATOR) |
| Nemours Children's Health | Orlando | Florida | 32827 | Katiana Fenelon Omer Abdul Hamid, MD (PRINCIPAL_INVESTIGATOR) |
| Nemours Children's Hospital | Orlando | Florida | 32827 | Omer Abdul Hamid, MD (PRINCIPAL_INVESTIGATOR) |
| University of Iowa | Iowa City | Iowa | 52242 | Michael E Shy, MD (PRINCIPAL_INVESTIGATOR) |
| Johns Hopkins University | Baltimore | Maryland | 21205 | Bipasha Mukherjee-Clavin, MD (PRINCIPAL_INVESTIGATOR) |
| Harvard/Massachusetts General Hospital | Boston | Massachusetts | 02114 | Reza Seyedsadjadi, MD (PRINCIPAL_INVESTIGATOR) |
| University of Michigan | Ann Arbor | Michigan | 48109 | Queen Bolden Brett McCray, MD, PhD (PRINCIPAL_INVESTIGATOR) |
| University of Minnesota | Minneapolis | Minnesota | 55455 | Sarah Hilbert David Walk, MD (PRINCIPAL_INVESTIGATOR) |
| University of Rochester | Rochester | New York | 14642 | Beth Wood David Herrmann, MD (PRINCIPAL_INVESTIGATOR) |
| Children's Hospital of Philadelphia | Philadelphia | Pennsylvania | 19104 | Sabrina Yum, MD (PRINCIPAL_INVESTIGATOR) |
| University of Pennsylvania | Philadelphia | Pennsylvania | 19104 | Pooja Patel Steven Scherer, MD (PRINCIPAL_INVESTIGATOR) |
| St. Jude Children's Research Hospital | Memphis | Tennessee | 38105-3678 | Richard Finkel, MD (PRINCIPAL_INVESTIGATOR) |
| Seattle Children's Hospital | Seattle | Washington | 98105 | Shawna Feely, MC, GC Seth Perlman, MD (PRINCIPAL_INVESTIGATOR) |