Charcot Marie Tooth DiseaseINC-6603NCT01203085
Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT
An observational study of Charcot Marie Tooth Disease, run by University of Iowa at 14 sites in 5 countries.
Trial summary
The primary goal of this project is to develop and test a Charcot Marie Tooth disease (CMT) Pediatric Scale for use in evaluation in natural history CMT study. Read more about this study
- Who is it for?
- Ages Up to 21 years
- Conditions the study is for
- Charcot Marie Tooth Disease
- How many people
- 1,201 participants
- Where
- 14 sitesin 5 countries
- Study dates
- Apr 2010to Sep 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Up to 21 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Patients who are 21 years of age and under who are also enrolled in the 6601 study and have performed all tasks to complete the CMT Peds Scale will be recruited for participation. Participation entails allow the information collected in the 6601 study be used for validation in the current study.
Who may be able to join
- All patients MUST be seen in person at one of the participating centers for enrollment in this study.
- Children (< 21 years of age)
- Known or probable inherited neuropathies classified as CMT1, CMT2, or CMT4
Who cannot join
- Known diagnoses of acquired neuropathy including toxic (e. g. medication related neuropathies); metabolic (e.g. diabetic), immune mediated or inflammatory [acute inflammatory demyelinating polyradiculoneuropathy (AIDP) or chronic inflammatory demyelinating polyneuropathy (CIDP)] polyneuropathies; neuropathy related to leukodystrophy, congenital muscular dystrophy; and patients with severe general medical conditions.
- Entirely normal conduction velocities of upper and lower limbs as this suggests that the subject may not have a neuropathy.
Trial locations and contacts
14 sites in 5 countries.
14 sites in 5 countries
United States9 sites
University of Michigan
Ann Arbor, Michigan, 48109
University of North Carolina
Chapel Hill, North Carolina, 27514
University of Connecticut/Connecticut Children's Medical Center
Hartford, Connecticut, 06106
University of Iowa
Iowa City, Iowa, 52242
Nemours Children's Clinic
Orlando, Florida, 32827
Stanford University
Palo Alto, California, 94305
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
University of Rochester
Rochester, New York, 14642
Seattle Children's Hospital
Seattle, Washington, 98105
United Kingdom2 sites
National Hospital of Neurology and Neurosurgery
London, England, WC1N 3BG
Dubowitz Neuromuscular Centre
London, UK
Australia1 site
Children's Hospital of Westmead
Sydney, New South Wales, 2145
About this study
Official title: Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth
The primary goal of this project is to develop and test a Charcot Marie Tooth disease (CMT) Pediatric Scale for use in evaluation in natural history CMT study.
Read the detailed description
This project is to develop a new CMT Pediatric Scale (CMTPeds) for Children with CMT. Although there is a validated score (the CMTNS) which measures disease severity for CMT, it is not always applicable to children due to their limited ability to relay information about their symptoms. The CMTPeds scale is being developed and validated in order to measure disease severity in children and have outcome measures available for future clinical trials. Children (defined as 21 and under) being evaluated will be asked to perform functional tasks such as using stairs, walking in a hallway, and performing hand function tests. This information will be used to validate the CMTPeds score. It is important to have validated instruments to measure disease severity in childhood so these can be used with clinical treatment trials are available.
- Conditions
- Charcot Marie Tooth Disease
- Medical subject headings
- Charcot-Marie-Tooth Disease
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 |
|---|---|---|
| Pediatric patients | All patients 21 years of age and under who are enrolled in the 6601 study and have undergone the pediatric scale tests. |
What is being measured
The primary outcome is the main question the study is designed to answer.
CMT Peds Scale Part 1: Symptoms
The CMT Peds Scale Symptoms include foot and hand symptoms.
Measured: 1 year
CMT Peds Score Part 2: Foot and Ankle Involvement
Foot and ankle involvement includes foot posture index, range of ankle dorsiflexion, foot drop present/absent, and whether or not difficulty heel/toe walking.
Measured: 1 year
CMT Peds Scale Part 3: Hand dexterity
Hand dexterity involves hand dexterity testing and the nine-hole peg test.
Measured: 1 year
CMT Peds Scale Part 4: Hand strength
Hand strength includes grip strength, thumb-index pinch, and three point pinch.
Measured: 1 year
CMT Peds Scale Part 5: Foot Strength
Foot strength includes the strength of plantar- and dorsi-flexion, eversion, and inversion.
Measured: 1 year
CMT Peds Score Part 6: Sensation
Sensation includes pinprick and vibration sensations.
Measured: 1 year
CMT Peds Scale Part 7: Balance
Balance is assessed by the Bruininks-Oseretsky Test of Motor Proficiency, 2nd Edition (BOT-2).
Measured: 1 year
CMT Peds Scale Part 8: Motor Function
Motor function assessment includes long jump, 10 meter run/walk, stair climb, stair descend, and 6 minute walk test.
Measured: 1 year
Secondary outcomes (1)
Evaluate CMT Pediatric Scale (CMT Peds Scale) in CMT natural history study
The sections of the CMT Peds Scale which are found to be clinically/functionally useful after one year of analysis will be carried forward for all pediatric patients every 6 months to one year.
Measured: 6 months to 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Sep 2010 (estimated)
- Study startApr 2010
- Primary completionJul 2025
- Study completionSep 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Charcot Marie Tooth DiseaseStudies 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
- Case only
- Time perspective
- Prospective
- Enrolment
- 1,201 participants (actual)
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, Children's Hospital of Philadelphia, University College London Hospitals, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Sydney Children's Hospitals Network, Nemours Children's Clinic
- 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
- NCT01203085
- Sponsor's protocol ID
- INC-6603
- Other IDs
- 1U54NS065712-01
- Acronym
- INC-6603
- Status last verified
- Sep 2025
- First submitted
- 9 Aug 2010
- Last updated
- 27 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- 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.
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
- Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth
- ClinicalTrials.gov ID
- NCT01203085
- Acronym / sponsor ID
- INC-6603 / INC-6603
- Conditions
- Charcot Marie Tooth Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,201 participants (actual)
- Lead sponsor
- University of IowaUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), Muscular Dystrophy Association, University of Rochester, Children's Hospital of Philadelphia, University College London Hospitals, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Sydney Children's Hospitals Network, Nemours Children's Clinic
- Study start
- Apr 2010 (actual)
- Primary completion
- Jul 2025 (actual)
- Study completion
- Sep 2025 (actual)
- First posted
- 16 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.
The primary goal of this project is to develop and test a Charcot Marie Tooth disease (CMT) Pediatric Scale for use in evaluation in natural history CMT study.
Detailed description
This project is to develop a new CMT Pediatric Scale (CMTPeds) for Children with CMT. Although there is a validated score (the CMTNS) which measures disease severity for CMT, it is not always applicable to children due to their limited ability to relay information about their symptoms. The CMTPeds scale is being developed and validated in order to measure disease severity in children and have outcome measures available for future clinical trials. Children (defined as 21 and under) being evaluated will be asked to perform functional tasks such as using stairs, walking in a hallway, and performing hand function tests. This information will be used to validate the CMTPeds score. It is important to have validated instruments to measure disease severity in childhood so these can be used with clinical treatment trials are available.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pediatric patients | – | –All patients 21 years of age and under who are enrolled in the 6601 study and have undergone the pediatric scale tests. |
Who may qualify
- Ages
- Up to 21 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Patients who are 21 years of age and under who are also enrolled in the 6601 study and have performed all tasks to complete the CMT Peds Scale will be recruited for participation. Participation entails allow the information collected in the 6601 study be used for validation in the current study.
Key inclusion criteria (3 listed)
- All patients MUST be seen in person at one of the participating centers for enrollment in this study.
- Children (< 21 years of age)
- Known or probable inherited neuropathies classified as CMT1, CMT2, or CMT4
Key exclusion criteria (2 listed)
- Known diagnoses of acquired neuropathy including toxic (e. g. medication related neuropathies); metabolic (e.g. diabetic), immune mediated or inflammatory [acute inflammatory demyelinating polyradiculoneuropathy (AIDP) or chronic inflammatory demyelinating polyneuropathy (CIDP)] polyneuropathies; neuropathy related to leukodystrophy, congenital muscular dystrophy; and patients with severe general medical conditions.
- Entirely normal conduction velocities of upper and lower limbs as this suggests that the subject may not have a neuropathy.
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
CMT Peds Scale Part 1: Symptoms
Time frame: 1 year
The CMT Peds Scale Symptoms include foot and hand symptoms.
CMT Peds Score Part 2: Foot and Ankle Involvement
Time frame: 1 year
Foot and ankle involvement includes foot posture index, range of ankle dorsiflexion, foot drop present/absent, and whether or not difficulty heel/toe walking.
CMT Peds Scale Part 3: Hand dexterity
Time frame: 1 year
Hand dexterity involves hand dexterity testing and the nine-hole peg test.
CMT Peds Scale Part 4: Hand strength
Time frame: 1 year
Hand strength includes grip strength, thumb-index pinch, and three point pinch.
CMT Peds Scale Part 5: Foot Strength
Time frame: 1 year
Foot strength includes the strength of plantar- and dorsi-flexion, eversion, and inversion.
CMT Peds Score Part 6: Sensation
Time frame: 1 year
Sensation includes pinprick and vibration sensations.
CMT Peds Scale Part 7: Balance
Time frame: 1 year
Balance is assessed by the Bruininks-Oseretsky Test of Motor Proficiency, 2nd Edition (BOT-2).
CMT Peds Scale Part 8: Motor Function
Time frame: 1 year
Motor function assessment includes long jump, 10 meter run/walk, stair climb, stair descend, and 6 minute walk test.
1 secondary outcome
Evaluate CMT Pediatric Scale (CMT Peds Scale) in CMT natural history study
Time frame: 6 months to 1 year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Oct 2026.
- Inherited Neuropathy 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. This study is not recruiting at the moment.
Michael E Shy, MD principal investigator
University of Iowa
14 sites in 5 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, run by University of Iowa at 14 sites in 5 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 3 inclusion and 2 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: finished, 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 14 sites in United States, United Kingdom, Australia, Canada, Italy. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
CMT Peds Scale Part 1: Symptoms (time frame: 1 year). The study lists 8 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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.