CMT Followers, Please Note:
The Inherited Neuropathies Consortium (INC) and the CMT North American Network would like to let you know their study 6602: Genetics of Charcot-Marie-Tooth Disease is recruiting patients!
They have provided the following information about the study, including a summary, eligibility criteria, and a list of participating center locations.
If you are interested in participating in this study or you have more questions, please contact the center nearest to you.
Study Status: Recruiting
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. Patients will not be paid for taking part in this study.
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 two aims of this study: finding genetic modifiers for CMT1A, and finding new genes that cause CMT.
All people with CMT1A have the same duplication of the PMP22 gene. However, the symptoms that a person with CMT1A experiences can range from mild to severe. We are looking at the DNA and impairment of 1000 people to see if we can find other genetic causes that modify their CMT1A symptoms.
While many of the genes that cause CMT when mutated have been discovered, there are still many types of CMT for which the genetic cause is unknown. We are looking at small families who have forms of CMT that have not been identified by genetic testing to see if we can find the cause for their CMT.
The research questions are:
Are there genes that influence the symptoms of CMT1A?
Can we identify new causes of CMT using small families with an unknown cause to their CMT?
About this Study
This is a study where we are collecting DNA from subjects once. We are looking to collect DNA and clinical information (as part of study 6601: Natural History Evaluation of Charcot-Marie-Tooth Disease) on 1000 patients with CMT1A. You may be enrolled in study 6601 for an extended period of time, but the involvement for this study (6602) is a one-time event. For small families (about 3 people) with unidentified forms of CMT, we will be enrolling 20 families. This is also a one-time event. Enrollment includes entry into study 6601, and agreement to take part in 6602. For this study, we require a blood draw, where three tubes of blood will be taken.
To be eligible to participate, you must:
For the CMT1A Gene Modifier Study:
Have genetically confirmed CMT1A (or have a first or second degree family member who has genetically confirmed CMT1A) and have nerve conduction velocities in the demyelinating range
For the New Causes of CMT Project:
You have a neuropathy on nerve conduction studies or a clinically diagnosed genetic neuropathy
You or a first or second degree family member have had negative genetic testing for MFN2 if you have an axonal form of CMT (nerve conductions greater than 38 m/s in the arms), or negative genetic testing for PMP22 duplication, deletion, sequencing, MPZ, and GJB1 if a demyelinating form of CMT is present (How to Participate:
In order to participate in a study, you must personally contact any of the participating institutions listed below by phone or e-mail. Please contact the participating institution that is closest to your location.
Johns Hopkins University, Baltimore
Principal Investigator: Thomas Lloyd, MD, PhD
Contact Person: Andrea N. Kelley
Office: (443) 287-0627
Wayne State University, Detroit
Principal Investigator: Michael Shy, MD
Contact Person: Lisa Rowe, BS
Office: (313) 577-1689
University of Rochester
Principal Investigator: David Herrmann, MBBCh
Contact Person: Janet Sowden
Office: (585) 275-1267
Children’s Hospital of Philadelphia
Principal Investigator: Richard Finkel, MD
Contact Person: Donnette Paris
Office: (267) 426-7167
University of Pennsylvania, Philadelphia
Principal Investigator: Steven Scherer, MD, PhD
Contact Person: Meryl Candor
Office: (215) 349-5313
University of Washington, Seattle
Principal Investigator: Thomas Bird, MD
Contact Person: Corrie Smith, MS, CGC
Office: (206) 598-3462
The Children’s Hospital at Westmead
Principal Investigator: Joshua Burns
Contact Person: Natalie Gabrael
Office: +61 2 9845 1904
National Hospital for Neurology and Neurosurgery, London
Principal Investigator: Mary Reilly, MD
Contact Person: Matilde Laura