Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2



Status:Recruiting
Conditions:Neurology, Dental
Therapuetic Areas:Dental / Maxillofacial Surgery, Neurology
Healthy:No
Age Range:Any
Updated:2/21/2019
Start Date:April 2010
End Date:December 2019
Contact:Shawna Feely, MS, CGC
Email:UICMTClinic@uiowa.edu
Phone:319-384-6362

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Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT

This project includes two projects. One is looking for new genes that cause Charcot Marie
Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the
symptoms a person has.

This project is to understand modifier genes and how they influence the severity of disease
expression, along with identifying new forms of CMT which have not been genetically
determined. Subjects who are eligible will either have CMT type 1A (CMT1A) or an unknown form
of CMT. Blood will be drawn and sent to the University of Miami where they receive the coded
sample and process it through exome sequencing. Subjects will be told that this is optional.

Inclusion Criteria:

Patient MUST be seen in person at one of the clinical sites involved in this study.

Charcot Marie Tooth disease type 1A (CMT1A) modifier gene study

- Patient has a documented PMP22 duplication OR

- Patient has a first or second degree relative (parent, child, sibling, half-sibling,
aunt, uncle, grandparent, grandchild, niece, or nephew) with a documented PMP22
duplication AND a clear link between that family member and the affected patient AND a
phenotype consistent with CMT1A.

i. A clear link is necessary for a second-degree relative. For example, if a
grandparent is affected and has a PMP22 duplication, and the parent does not have any
signs, symptoms, or electrophysiology consistent with CMT1A, there is no clear link.

ii. In cases where clear links are not available, genetic testing is required for the
patient or the first degree family member who is not clearly affected.

AND

- Patient has agreed to take part in the study and has signed a consent form.

- A teenager (ages 13-17) considering enrolling must agree to take part in the study and
sign an assent form

Inclusion Criteria - CMT Exome Project

1. Patient has demonstrated neuropathy on nerve conduction studies or a clinically
diagnosed genetic neuropathy.

2. Patient or first or second degree family member with a clear link as described in the
CMT1A Inclusion Criteria part b has had negative MFN2 genetic testing, if has an
axonal form of CMT (nerve conductions greater than 38 m/s) or negative testing for
PMP22 duplication, deletion, sequencing, MPZ, and GJB1 if a demyelinating form of CMT
is present (<38 m/s).

3. More than one family member is willing eligible to participate.

i. Sample pedigrees showing optimal degrees of relationship are shown below. ii.
Participation includes being able to complete all aspects of the study, including the
giving informed consent, having a brief physical examination, and providing a DNA sample.

d. Patient has agreed to take part in the study and has signed a consent form. e. A
teenager (ages 13-17) considering enrolling must agree to take part in the study and sign
an assent form.

Inclusion Criteria - Controls

1. Person does not have a peripheral neuropathy, as determined by the investigator.

2. Person has understood the study and signed an IRB approved consent form. Teenagers
(age 13-17 years) must sign an assent form.

Exclusion Criteria:

1. Patient does not wish to participate or does not sign a consent form.

2. For CMT Exome Project, patient has a genetically confirmed form of CMT (i.e. mutation
in MFN2 causing CMT2A, mutation in GARS causing CMT2D, etc.).

3. Known neuropathy from a non-genetic source, such as chemotherapies (i.e. Vincristine,
Taxol, Cisplatin), diabetes, alcoholism will be evaluated independently so that
genetic contributions to their effects on CMT1A phenotypes can also be analyzed.
We found this trial at
17
sites
14500 99th Avenue North
Maple Grove, Minnesota 55369
Principal Investigator: David Walk, MD
Phone: 612-624-5978
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3400 N Charles St
Baltimore, Maryland 21205
410-516-8000
Principal Investigator: Tom Lloyd, MD, PhD
Phone: 410-614-4188
Johns Hopkins University The Johns Hopkins University opened in 1876, with the inauguration of its...
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282 Washington St
Hartford, Connecticut 06106
(860) 545-9000
Principal Investigator: Gyula Acsadi, MD, PhD
Phone: 860-837-5871
Connecticut Children's Medical Center Connecticut Children’s Medical Center is a nationally recognized, 187-bed not-for-profit children’s...
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Hartford, CT
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101 Jessup Hall
Iowa City, Iowa 52242
(319) 335-3500
Principal Investigator: Michael E Shy, MD
Phone: 319-384-6362
University of Iowa With just over 30,000 students, the University of Iowa is one of...
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8700 Beverly Blvd # 8211
Los Angeles, California 90048
(1-800-233-2771)
Principal Investigator: Robert Baloh, MD, PhD
Phone: 424-315-2694
Cedars Sinai Med Ctr Cedars-Sinai is known for providing the highest quality patient care. Our...
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Miami, Florida 33124
(305) 284-2211
Principal Investigator: Stephan Zuchner, MD, PhD
Phone: 305-243-2550
University of Miami A private research university with more than 15,000 students from around the...
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Miami, FL
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South 34th Street
Philadelphia, Pennsylvania 19104
 215-590-1000
Principal Investigator: Sabrina Yum, MD
Phone: 215-590-1719
Children's Hospital of Philadelphia Since its start in 1855 as the nation's first hospital devoted...
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60 Crittenden Blvd # 70
Rochester, New York 14642
(585) 275-2121
Principal Investigator: David Herrmann, MD
Phone: 585-275-1267
University of Rochester The University of Rochester is one of the country's top-tier research universities....
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500 S State St
Ann Arbor, Michigan 48109
(734) 764-1817
Principal Investigator: Sindhu Ramchandren, MD, MS
Phone: 734-647-9224
University of Michigan The University of Michigan was founded in 1817 as one of the...
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12605 East 16th Avenue
Aurora, Colorado 80045
720-848-0000
Principal Investigator: Vera Fridman, MD
Phone: 303-724-2188
University of Colorado Hospital, Site Top medical professionals, superior medicine and progressive change make University...
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Boston, Massachusetts 02114
Principal Investigator: Reza Seyedsadjadi, MD
Phone: 617-643-6996
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410 W 10th Ave
Columbus, Ohio 43210
(614) 293-8652
Principal Investigator: Amro Stino, MD
The Ohio State University, Wexner Medical Center Located in Columbus, The Ohio State University Wexner...
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4201 St Antoine St
Detroit, Michigan 48201
(313) 577-1429
Principal Investigator: Jun Li, MD, PhD
Phone: 313-966-0473
Wayne State University/Detroit Medical Center Founded in 1868, the Wayne State University School of Medicine...
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Orlando, Florida 32806
Principal Investigator: Richard Finkel, MD
Phone: 407-567-6206
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Palo Alto, California 94304
Principal Investigator: John Day, MD, PhD
Phone: 650-721-5588
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3451 Walnut St
Philadelphia, Pennsylvania 19104
1 (215) 898-5000
Principal Investigator: Steven Scherer, MD
Phone: 215-349-5313
Univ of Pennsylvania Penn has a long and proud tradition of intellectual rigor and pursuit...
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Sydney, New South Wales 2145
Principal Investigator: Joshua Burns, PhD
Phone: +61 2 9845 1904
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