Study Summary
Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.
Background
Charcot Marie Tooth disease (CMT) is an umbrella term that covers any inherited peripheral neuropathy. People with CMT have a problem with the nerves that go to the feet and hands that cause muscle and sensation loss, as well as difficulty with balance. There are at least forty genes that, when mutated, cause CMT. The purpose of this study is to look at the natural history of CMT to see how it changes over time. Particular emphasis will be put on studying people with CMT1B, CMT2A, CMT4A, and CMT4C, though all people with CMT are encouraged to participate. Participants are invited back on a yearly basis to determine how the changes are occurring.
About this Study
This is a longitudinal study of individuals with CMT. Those participating in this study will be invited to be re-evaluated every year. There is no cap on the number of participants who can enroll – all people who meet the inclusion criteria are encouraged to participate.
There are many parts to a clinic visit for this study. At the first visit, you will be assessed for eligibility, be provided informed consent, have minimal demographics taken, and a treatment history.
At each visit, we will also assess your medications and take a medical history. You will be asked to:
- Have a neurological examination
- Have nerve conduction studies performed
- Take a questionnaire regarding your feelings about your health
Targeted Enrollment
To be eligible to participate, you must:
- Have Charcot Marie Tooth disease (CMT)
You are not eligible to participate if:
- You have a peripheral neuropathy caused by a different source (i.e. alcohol, chemotherapy, diabetes, etc.)
- The site investigator does not think it is appropriate for you to participate.
How to participate
In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information to the right to inquire about participation.
Total Enrollment: 6800
Participating Sites
Cedars Sinai Medical Center
8700 Beverly Boulevard, #2900A
Los Angeles, California, United States, 90048
https://www.cedars-sinai.org/programs/neurology-neurosurgery/clinical/nerve-muscle-als/neuropathy.html
Contact:
Primary Investigator:
Richard
Lewis,
MD
1-617-523-7900
Tara Jones, MS, LCGC1-310-423-4268
Children's Hospital at Westmead
Corner of Hawkesbury Road & Hainsworth Street
Westmead, New South Wales, Australia, 2145
https://www.schn.health.nsw.gov.au/hospitals/chw
Contact:
Primary Investigator:
Joshua
Burns,
PhD
Study Coordinator: Gabrielle Donlevy
1-61-2-9845-1328
gabrielle.donlevy@health.nsw.gov.au
Study Coordinator: Melissa Mandarakas
1-61-2-9845-1904
Children's Hospital of Philadelphia
3401 Civic Center Boulevard
Philadelphia, Pennsylvania, United States, 19104
http://www.chop.edu/
Contact:
Primary Investigator:
Sabrina
Yum,
MD
1-215-590-1719
Connecticut Children's Medical Center
282 Washington Street
Hartford, Connecticut, United States, 06106
https://www.connecticutchildrens.org/search-specialties/neurology/neurology-charcot-marie-tooth-cmt-clinic/
Contact:
Primary Investigator:
Gyula
Acsadi,
MD, PhD
1-860-837-5871
Johns Hopkins University
3400 N. Charles Street
Baltimore, Maryland, United States, 21218
https://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/cmt/
Contact:
Primary Investigator:
Thomas
Lloyd,
MD, PhD
1-410-955-7487
Simone Thomas1-410-614-4188
Massachusetts General Hospital
55 Fruit Street
Boston, Massachusetts, United States, 02114
https://www.cmtausa.org/living-with-cmt/find-help/cmta-centers-of-excellence/
Contact:
Primary Investigator:
Reza
Alizadehfar,
MD
1-617-726-0230
National Hospital for Neurology and Neurosurgery
Queen Square
London, Greater London, England, WC1N 3BG
https://www.uclh.nhs.uk/our-services/our-hospitals/national-hospital-neurology-and-neurosurgery
Contact:
Primary Investigator:
Mary
Reilly,
MD
1-44-203-108-7544
Nemours Children's Health System Orlando
6535 Nemours Parkway
Orlando, Florida, United States, 32827
https://www.nemours.org/locations/orlando-nemours-childrens-hospital.html
Contact:
Primary Investigator:
Richard
Finkel,
MD
1-407-567-6202
Stanford University
450 Serra Mall
Stanford, California, United States, 94305
https://stanfordhealthcare.org/medical-clinics/neuromuscular-program.html
Contact:
Primary Investigator:
John
Day,
MD, PhD
1-650-721-5588
University of Colorado
12605 E 16th Avenue
Aurora, Colorado, United States, 80045
https://medschool.cuanschutz.edu/neurology
Contact:
Primary Investigator:
Vera
Fridman,
MD
1-303-427-6386
University of Iowa - Administrative Core
200 Hawkins Drive
Iowa City, Iowa, United States, 52242
https://uihc.org/services/charcot-marie-tooth-disease-cmt
Contact:
Primary Investigator:
Michael
Shy,
MD
Consortium Project Manager: Nicole Kressin, RN, MSN
1-319-678-8596
University of Miami
1501 NW 10th Avenue
Miami, Florida, United States, 33136
https://med.miami.edu/centers-and-institutes/hihg/research-programs/charcot-marie-tooth-disease
Contact:
Lisa
Abreu,
MPH
1-305-243-2550
University of Minnesota
730 S 8th Street
Minneapolis, Minnesota, United States, 55455
https://med.umn.edu/mdcenter/patient-care/CMTC
Contact:
Primary Investigator:
David
Walk,
MD
Coordinator: Carly Schroeder
1-612-626-6499
University of Pennsylvania
3450 Hamilton Walk, Stemmler Hall Room 450
Philadelphia, Pennsylvania, United States, 19104
https://www.pennmedicine.org/for-patients-and-visitors/find-a-program-or-service/neurology/neuromuscular-disorders
Contact:
Primary Investigator:
Steven
Scherer,
MD, PhD
1-215-573-4454
University of Rochester
500 Joseph C. Wilson Boulevard
Rochester, New York, United States, 14627
https://www.urmc.rochester.edu/neurology/our-divisions/neuromuscular/clinics/charcot-marie-tooth-clinic.aspx
Contact:
Primary Investigator:
David
Herrmann,
MBBCh
Site Coordinator: Janet Sowden
1-585-275-1267