Charcot-Marie-Tooth Disease, Type Ia (Disorder)INC-6602NCT01193088
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
An observational study of Charcot-Marie-Tooth Disease, Type Ia (Disorder) and HMSN, run by University of Iowa at 24 sites in 6 countries.
Trial summary
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Charcot-Marie-Tooth Disease, Type Ia (Disorder), HMSN
- How many people
- 1,050 participants
- Where
- 24 sitesin 6 countries
- Study dates
- May 2010to Dec 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients participating in Inherited Neuropathies Consortium (INC)-6601 and meeting eligibility criteria for this study will be recruited.
Who may be able to join
- Patients:
- o Must have demonstrated neuropathy on nerve conduction studies or a clinically diagnosed hereditary neuropathy, in the opinion of the site investigator.
- Controls:
- Must be a family member of a CMT patient who is enrolled in the 6602.
- AND one of the following:
- Does not have a peripheral neuropathy, in the opinion of the site investigator.
Show all 13Show fewer
- OR is suspected to have a peripheral neuropathy, but has not been examined at an INC site.
- CMT1A Modifier Study
- Patient has a documented PMP22 duplication
- AND/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.
- 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.
- 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.
Who cannot join
- All Patients: Must not have known neuropathy from a non-genetic source, such as chemotherapies (i.e., Vincristine, Taxol, Cisplatin), diabetes, alcoholism.
- CMT Exome Project Patients ONLY: Must not have a genetically confirmed form of CMT
- All Participants: Does not wish to participate or does not sign a consent form.
Trial locations and contacts
24 sites in 6 countries. Contact the study team or a site near you to ask about taking part.
24 sites in 6 countries
United States18 sites, 18 recruiting
- Recruiting
University of Michigan
Ann Arbor, Michigan, 48109
Angela Stovall, 734-647-4787, astovall@med.umich.edu
Brett McCray, MD, PhD
- Recruiting
University of Colorado Hospital
Aurora, Colorado, 80045
Study Recruiter, 303-724-4644, NeuroResearch@CUAnschutz.edu
Vera Fridman, MD
- Recruiting
Johns Hopkins University
Baltimore, Maryland, 21205
Simone Thomas, 410-614-4188, sthom125@jhmi.edu
Bipasha Mukherjee-Clavin, MD, PhD
- Recruiting
Harvard/Massachusetts General Hospital
Boston, Massachusetts, 02114
Lauren Politica, lpolitica@mgh.harvard.edu
Reza Seyedsadjadi, MD
- Recruiting
University of North Carolina
Chapel Hill, North Carolina, 27599
Caroline Summerour, summerourc@neurology.unc.edu
Rebecca Traub, MD
- Recruiting
Nationwide Children's Hospital
Columbus, Ohio, 43205
Stephanie Davis, Stephanie.Davis3@nationwidechildrens.org
Diana Bharucha-Goebel, MD
- Recruiting
Connecticut Children's Medical Center
Hartford, Connecticut, 06106
Jennifer Twatchtman-Bassett, 860-837-7500, jtwachtman@connecticutchildrens.org
Gyula Acsadi, MD, PhD
- Recruiting
Houston Methodist Hospital
Houston, Texas, 77030
Samia Saad, 346.238.2287, ssaad@houstonmethodist.org
Jun Li, MD, PhD
- Recruiting
University of Iowa
Iowa City, Iowa, 52242
Tiffany Grider, MS, CGC, 319-384-6362, UICMTClinic@uiowa.edu
Michael E Shy, MD
- Recruiting
Cedars-Sinai Medical Center
Los Angeles, California, 90048
Marcela Arenas Sanchez, 800-233-2771, marcela.arenassanchez@cshs.org
Robert Baloh, MD, PhD
- Recruiting
University of Minnesota
Maple Grove, Minnesota, 55369
Mia Freiberg, freib052@umn.edu
David Walk, MD
- Recruiting
St. Jude Children's Research Hospital
Memphis, Tennessee, 38105
Colin Quillivan, 901-595-7708, Colin.Quillivan@STJUDE.ORG
Richard Finkel, MD
- Recruiting
University of Miami
Miami, Florida, 33136
Liuba Alonso, lxa2158@med.miami.edu
Stephan Zuchner, MD, PhD
- Recruiting
Stanford University
Palo Alto, California, 94304
Michelle Jepsen, mjepsen@stanford.edu
John Day, MD, PhD
- Recruiting
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Sabrina Yum, MD, 215-590-1719, Yums@email.chop.edu
Sabrina Yum, MD
- Recruiting
University of Pennsylvania
Philadelphia, Pennsylvania, 19104
Daya Stevens, daya.stevens@pennmedicine.upenn.edu
Steven Scherer, MD
- Recruiting
University of Rochester
Rochester, New York, 14642
Janet Sowden, 585-275-1267, janet_sowden@urmc.rochester.edu
David Herrmann, MD
- Recruiting
Seattle Children's Hospital
Seattle, Washington, 98105
Shawna Feely, 206-987-6678, shawna.feely@seattlechildrens.org
Seth Perlman, MD
United Kingdom2 sites, 2 recruiting
- Recruiting
National Hospital of Neurology and Neurosurgery
London, England, WC1N 3BG
Matilde Laura, MD, m.laura@ucl.ac.uk
Mary Reilly, MD
- Recruiting
Great Ormond Street Hospital
London, England, WC1N 3JH
Evelin Milev, Evelin.Milev@gosh.nhs.uk
Francesco Muntoni, MD
Australia1 site, 1 recruiting
- Recruiting
Children's Hospital of Westmead
Sydney, New South Wales, 2145
Gabrielle Donlevy, +61 2 9845 1904, gabrielle.donlevy@health.nsw.gov.au
Manoj Menezes, MD
Canada1 site, 1 recruiting
- Recruiting
The Hospital for Sick Children
Toronto, Ontario, M5G 1X8
Magdalena Lovaglio, 416-648-6831, Magdalena.lovaglio@sickkids.ca
Hernan Gonorazky, MD
Cyprus1 site, 1 recruiting
- Recruiting
The Cyprus Institute of Neurology & Genetics
Nicosia
Rana Abu Manneh, ranam@cing.ac.cy
Christiana Christodoulou, christianachr@cing.ac.cy
Italy1 site, 1 recruiting
- Recruiting
C. Besta Neurological Institute
Milan
Eleonora Cavalca, eleonora.cavalca@istituto-besta.it
Davide Pareyson, MD
About this study
Official title: 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.
Read the detailed description
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.
- Keywords
- CMT, CMT1A
- Medical subject headings
- Charcot-Marie-Tooth Disease, Hereditary Sensory and Motor Neuropathy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| CMT1A | Families/people with genetically defined CMT1A | |
| Genetically undefined CMT | Families/people with genetically undefined CMT with common causes ruled out. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Charcot Marie Tooth disease type 1A (CMT1A) gene modifiers
While the same genetic change - an extra copy of PMP22 - causes CMT1A by definition, it is unclear why some people have more severe symptoms and some have less severe. We are looking for genetic modifiers - changes in the DNA that may be causing the differences in symptoms.
Measured: once
New genetic causes of CMT
At least 33% of people with CMT have an unknown or genetically un-found form of the condition. We are looking for additional genes that cause CMT when mutated.
Measured: Once
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Sep 2010 (estimated)
- Study startMay 2010
- Primary completionDec 2030 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Charcot-Marie-Tooth Disease, Type Ia (Disorder)Studies of the same condition, open and under way.
- More trials run by University of IowaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,050 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Iowa
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), Muscular Dystrophy Association, University of Rochester, University of Pennsylvania, King's College Hospital NHS Trust, Sydney Children's Hospitals Network, Children's Hospital of Philadelphia, University of Miami, Johns Hopkins University, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Cedars-Sinai Medical Center, Nemours Children's Clinic, Stanford University, University of Minnesota, Massachusetts General Hospital, University of Colorado, Denver, Children's National Research Institute, University of Michigan, St. Jude Children's Research Hospital, Connecticut Children's Medical Center, Seattle Children's Hospital, The Hospital for Sick Children
- Responsible party
- Principal investigator, Michael Shy, University of Iowa
- Investigators
- Michael E Shy, MD, Principal investigator, University of Iowa
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01193088
- Sponsor's protocol ID
- INC-6602
- Other IDs
- 1U54NS065712-01
- Acronym
- INC-6602
- Status last verified
- Sep 2026
- First submitted
- 9 Aug 2010
- Last updated
- 27 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- Yes: De-identified RDCRN data is submitted to an ORDR-designated repository. For the current grant cycle, that repository has been dbGaP
Publications
Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Zuchner S. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol. 2011 Mar;69(3):464-70. doi: 10.1002/ana.22235. Epub 2011 Jan 20.
PubMed 21254193
Study at a glance
From the registry record, last updated by the sponsor on 27 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT
- ClinicalTrials.gov ID
- NCT01193088
- Acronym / sponsor ID
- INC-6602 / INC-6602
- Keywords
- CMT, CMT1A
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,050 participants (estimated)
- Lead sponsor
- University of IowaUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), Muscular Dystrophy Association, University of Rochester, University of Pennsylvania, King's College Hospital NHS Trust, Sydney Children's Hospitals Network, Children's Hospital of Philadelphia, University of Miami, Johns Hopkins University, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Cedars-Sinai Medical Center, Nemours Children's Clinic, Stanford University, University of Minnesota, Massachusetts General Hospital, University of Colorado, Denver, Children's National Research Institute, University of Michigan, St. Jude Children's Research Hospital, Connecticut Children's Medical Center, Seattle Children's Hospital, The Hospital for Sick Children
- Study start
- May 2010 (actual)
- Primary completion
- Dec 2030 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 1 Sep 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| CMT1A | – | –Families/people with genetically defined CMT1A |
| Genetically undefined CMT | – | –Families/people with genetically undefined CMT with common causes ruled out. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients participating in Inherited Neuropathies Consortium (INC)-6601 and meeting eligibility criteria for this study will be recruited.
Key inclusion criteria (13 listed)
- Patients:
- o Must have demonstrated neuropathy on nerve conduction studies or a clinically diagnosed hereditary neuropathy, in the opinion of the site investigator.
- Controls:
- CMT1A Modifier Study
- Patient has a documented PMP22 duplication
Key exclusion criteria (3 listed)
- All Patients: Must not have known neuropathy from a non-genetic source, such as chemotherapies (i.e., Vincristine, Taxol, Cisplatin), diabetes, alcoholism.
- CMT Exome Project Patients ONLY: Must not have a genetically confirmed form of CMT
- All Participants: Does not wish to participate or does not sign a consent form.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Charcot Marie Tooth disease type 1A (CMT1A) gene modifiers
Time frame: once
While the same genetic change - an extra copy of PMP22 - causes CMT1A by definition, it is unclear why some people have more severe symptoms and some have less severe. We are looking for genetic modifiers - changes in the DNA that may be causing the differences in symptoms.
New genetic causes of CMT
Time frame: Once
At least 33% of people with CMT have an unknown or genetically un-found form of the condition. We are looking for additional genes that cause CMT when mutated.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Oct 2026.
- Results publication: PubMed 21254193Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Zuchner S. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol. 2011 Mar;69(3):464-70. doi: 10.1002/ana.22235. Epub 2011 Jan 20.
- Inherited Neuropathies Consortium WebsiteLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. De-identified RDCRN data is submitted to an ORDR-designated repository. For the current grant cycle, that repository has been dbGaP
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Michael E Shy, MD principal investigator
University of Iowa
24 sites in 6 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Charcot-Marie-Tooth Disease, Type Ia (Disorder) and HMSN, run by University of Iowa at 24 sites in 6 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 13 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 27 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 24 sites in United States, United Kingdom, Australia, Canada, Cyprus and 1 more country. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Tiffany Grider, MS, CGC (319-384-6362, UICMTClinic@uiowa.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Charcot Marie Tooth disease type 1A (CMT1A) gene modifiers (time frame: once). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01193088, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Oct 2026.