Charcot-Marie-Tooth DiseaseNCT05011006
NT-3 Levels and Function in Individuals With CMT
An observational study of Charcot-Marie-Tooth Disease and Peripheral Neuropathy, run by Zarife Sahenk at 1 site in United States.
Trial summary
This study will assess the serum NT-3 levels in individuals with the diagnosis of peripheral neuropathy or any type of Charcot-Marie-Tooth Neuropathy (CMT) and correlate this with function. Read more about this study
- Who is it for?
- Ages 7 years and older
- Conditions the study is for
- Charcot-Marie-Tooth Disease, Peripheral Neuropathy, Chronic Inflammatory Demyelinating Polyneuropathy
- What is being tested?
- NT3 blood draw
- How many people
- 8 participants
- Where
- 1 siteUnited States
- Study dates
- 29 Jan 2020to 21 Nov 2020
- 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 7 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Male and female subjects, from 7 years of age and over with a definitive diagnosis of acquired peripheral neuropathy or genetically determined CMT neuropathy
Who may be able to join
- Males or females from 7 years of age or older
- Diagnosis of acquired peripheral neuropathy (PN) such as due to diabetes, chemo-induced, autoimmune chronic inflammatory demyelinating polyneuropathy (CIDP) established by a report of electrical studies or with a known genetic CMT diagnosis. Definitive diagnosis of PN is established with a report of electrical studies, EMG/nerve conduction studies.2
- Perform assessments to the best of their ability with reliable results as deemed by the evaluator.
- Ability to attend scheduled appointments
- Ability to provide informed consent (or assent for ages 9-18)
Who cannot join
- Current pregnancy per medical history
- Has a medical condition or extenuating circumstances that, in the opinion of the investigator, might compromise the subject's wellbeing, safety, or clinical interpretability
Trial locations and contacts
1 site in 1 country.
United States1 site
Nationwide Children's Hospital
Columbus, Ohio, 43205
About this study
Official title: Correlation of Circulating NT-3 Levels and Function in Individuals With Peripheral Neuropathy or Charcot-Marie-Tooth Neuropathy
This study will assess the serum NT-3 levels in individuals with the diagnosis of peripheral neuropathy or any type of Charcot-Marie-Tooth Neuropathy (CMT) and correlate this with function.
Read the detailed description
This study will assess the serum NT-3 levels in those with a peripheral neuropathy diagnosis which will help to determine the therapeutic levels of NT-3 in subjects that will receive AAV1.NT-3 gene therapy in a future study. This study also aims to define the natural history of any type of Charcot-Marie Tooth Disease (CMT), better define the rate of disease progression and skeletal muscle involvement. Another aim is to generate a registry of well-characterized CMT patients who may be candidates for future trials.
- Conditions
- Charcot-Marie-Tooth Disease, Peripheral Neuropathy, Chronic Inflammatory Demyelinating Polyneuropathy
- Being tested
- NT3 blood draw
- Keywords
- NT-3, CMT1A, Neuropathy
- Medical subject headings
- Charcot-Marie-Tooth Disease, Peripheral Nervous System Diseases, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NT3 blood drawDiagnostic test
blood draw
What is being measured
The primary outcome is the main question the study is designed to answer.
Assess change in Manual Muscle Testing (MMT)
Weakness in the major motor groups can be documented by using manual muscle testing. This exam allows the symmetry of strength, along with distribution and degree of weakness to be assessed. The Medical Research Council lists the major motor groups as: neck flexion, hip extension, knee flexion, ankle plantar flexion, and hip abduction. Depending on the clinical circumstances, the exam can be individualized. The Medical Research Council provides a scale ranging from 0-5. Inter-rater reliability will be documented by all evaluators of the trial. A rating of 5 indicates full range of motion, whereas a rating of 0 indicates no movement.
Measured: Compare baseline to Year 1 and Year 2 visits.
Assess change in 100 Meter Timed Test (100m):
Directions for study procedures will be provided in a way the subject can understand (i.e. verbal and/or written instruction, demonstration, practice, etc.). Once the subject is comfortable with study procedures, they will complete the 100m test one time. Patients will be asked to run a set course of 25 meters for 4 laps for a total distance of 100 meters. The time to complete in seconds will be recorded.
Measured: Compare baseline to Year 1 and Year 2 visits.
Assess change in Timed Functional Testing:
Timed Functional Testing can include time to ascend/descend 4 standard-sized stairs, time to rise from the floor (from NSAD), and the 10-meter run (from the NSAD).
Measured: Compare baseline to Year 1 and Year 2 visits.
Assess change in PROMIS Upper Extremity Function and Mobility Scales:
The PROMIS Upper Extremity Function and Mobility instruments are patient-reported outcomes (PRO) that utilize a patient reported and/or parent proxy scale based on the patient's age that measures an individual's perceived upper extremity function and mobility.
Measured: Compare baseline to Year 1 and Year 2 visits.
Assess change in Abilities Captured Through Interactive Video Evaluation (ACTIVE)
ACTIVE is a video game that utilizes the Microsoft Kinect camera to measure functional reaching volume while the patient is motivated to squish spiders or collect gems.
Measured: Compare baseline to Year 1 and Year 2 visits.
Assess change in CMT Pediatric Scale (CMTPedS)
The CMTPedS is a clinician-administered scale that rates patient performance on various functional activities involving the upper extremities, lower extremities, balance, and gait. The CMTPedS generates a linear score of disability ranging from 0 (not affected) to 44 (severely affected).
Measured: Compare baseline to Year 1 and Year 2 visits.
Assess change in Timed Up and Go
The Timed Up and Go test (TUG) is a simple test used to assess a person's mobility and requires both static and dynamic balance. It uses the time that a person takes to rise from a chair, walk three meters, turn around, walk back to the chair, and sit down.
Measured: Compare baseline to Year 1 and Year 2 visits.
Assess change in Forced Vital Capacity
Forced expiratory volume (FEV) measures how much air a person can exhale during a forced breath. Forced vital capacity (FVC) is the total amount of air exhaled during the FEV test.
Measured: Compare baseline to Year 1 and Year 2 visits.
Assess change in Exploratory Gait Evaluation
We may attempt to quantify gait using vibration sensors, activity monitors, or a portable walkway providing temporal spatial gait analysis.
Measured: Compare baseline to Year 1 and Year 2 visits.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Aug 2021
- Study start29 Jan 2020
- Primary completion21 Nov 2020
- Study completion21 Nov 2020
Why it stopped: After opening, the COVID-19 pandemic began, and the study was put on hold. Once we were able to resume the study, funds and resources were no longer available to continue and complete the study.
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.
- 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
- 8 participants (actual)
Sponsor and investigators
- Lead sponsor
- Zarife Sahenk
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Zarife Sahenk, Nationwide Children's Hospital
- Investigators
- Zarife Sahenk, MD., PhD., Principal investigator, Nationwide Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05011006
- Sponsor's protocol ID
- 19-0353
- Status last verified
- Jul 2026
- First submitted
- 4 Mar 2020
- Last updated
- 29 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Correlation of Circulating NT-3 Levels and Function in Individuals With Peripheral Neuropathy or Charcot-Marie-Tooth Neuropathy
- ClinicalTrials.gov ID
- NCT05011006
- Acronym / sponsor ID
- 19-0353
- Conditions
- Charcot-Marie-Tooth Disease, Peripheral Neuropathy, Chronic Inflammatory Demyelinating Polyneuropathy
- Keywords
- NT-3, CMT1A, Neuropathy
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: After opening, the COVID-19 pandemic began, and the study was put on hold. Once we were able to resume the study, funds and resources were no longer available to continue and complete the study.
- Enrolment
- 8 participants (actual)
- Lead sponsor
- Zarife SahenkUniversity, hospital or other
- Study start
- 29 Jan 2020 (actual)
- Primary completion
- 21 Nov 2020 (actual)
- Study completion
- 21 Nov 2020 (actual)
- First posted
- 18 Aug 2021 (actual)
- 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 study will assess the serum NT-3 levels in individuals with the diagnosis of peripheral neuropathy or any type of Charcot-Marie-Tooth Neuropathy (CMT) and correlate this with function.
Detailed description
This study will assess the serum NT-3 levels in those with a peripheral neuropathy diagnosis which will help to determine the therapeutic levels of NT-3 in subjects that will receive AAV1.NT-3 gene therapy in a future study. This study also aims to define the natural history of any type of Charcot-Marie Tooth Disease (CMT), better define the rate of disease progression and skeletal muscle involvement. Another aim is to generate a registry of well-characterized CMT patients who may be candidates for future trials.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 7 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Male and female subjects, from 7 years of age and over with a definitive diagnosis of acquired peripheral neuropathy or genetically determined CMT neuropathy
Key inclusion criteria (5 listed)
- Males or females from 7 years of age or older
- Diagnosis of acquired peripheral neuropathy (PN) such as due to diabetes, chemo-induced, autoimmune chronic inflammatory demyelinating polyneuropathy (CIDP) established by a report of electrical studies or with a known genetic CMT diagnosis. Definitive diagnosis of PN is established with a report of electrical studies, EMG/nerve conduction studies.2
- Perform assessments to the best of their ability with reliable results as deemed by the evaluator.
- Ability to attend scheduled appointments
- Ability to provide informed consent (or assent for ages 9-18)
Key exclusion criteria (2 listed)
- Current pregnancy per medical history
- Has a medical condition or extenuating circumstances that, in the opinion of the investigator, might compromise the subject's wellbeing, safety, or clinical interpretability
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| NT3 blood drawblood draw | Diagnostic test | – |
Primary outcome
Assess change in Manual Muscle Testing (MMT)
Time frame: Compare baseline to Year 1 and Year 2 visits.
Weakness in the major motor groups can be documented by using manual muscle testing. This exam allows the symmetry of strength, along with distribution and degree of weakness to be assessed. The Medical Research Council lists the major motor groups as: neck flexion, hip extension, knee flexion, ankle plantar flexion, and hip abduction. Depending on the clinical circumstances, the exam can be individualized. The Medical Research Council provides a scale ranging from 0-5. Inter-rater reliability will be documented by all evaluators of the trial. A rating of 5 indicates full range of motion, whereas a rating of 0 indicates no movement.
Assess change in 100 Meter Timed Test (100m):
Time frame: Compare baseline to Year 1 and Year 2 visits.
Directions for study procedures will be provided in a way the subject can understand (i.e. verbal and/or written instruction, demonstration, practice, etc.). Once the subject is comfortable with study procedures, they will complete the 100m test one time. Patients will be asked to run a set course of 25 meters for 4 laps for a total distance of 100 meters. The time to complete in seconds will be recorded.
Assess change in Timed Functional Testing:
Time frame: Compare baseline to Year 1 and Year 2 visits.
Timed Functional Testing can include time to ascend/descend 4 standard-sized stairs, time to rise from the floor (from NSAD), and the 10-meter run (from the NSAD).
Assess change in PROMIS Upper Extremity Function and Mobility Scales:
Time frame: Compare baseline to Year 1 and Year 2 visits.
The PROMIS Upper Extremity Function and Mobility instruments are patient-reported outcomes (PRO) that utilize a patient reported and/or parent proxy scale based on the patient's age that measures an individual's perceived upper extremity function and mobility.
Assess change in Abilities Captured Through Interactive Video Evaluation (ACTIVE)
Time frame: Compare baseline to Year 1 and Year 2 visits.
ACTIVE is a video game that utilizes the Microsoft Kinect camera to measure functional reaching volume while the patient is motivated to squish spiders or collect gems.
Assess change in CMT Pediatric Scale (CMTPedS)
Time frame: Compare baseline to Year 1 and Year 2 visits.
The CMTPedS is a clinician-administered scale that rates patient performance on various functional activities involving the upper extremities, lower extremities, balance, and gait. The CMTPedS generates a linear score of disability ranging from 0 (not affected) to 44 (severely affected).
Assess change in Timed Up and Go
Time frame: Compare baseline to Year 1 and Year 2 visits.
The Timed Up and Go test (TUG) is a simple test used to assess a person's mobility and requires both static and dynamic balance. It uses the time that a person takes to rise from a chair, walk three meters, turn around, walk back to the chair, and sit down.
Assess change in Forced Vital Capacity
Time frame: Compare baseline to Year 1 and Year 2 visits.
Forced expiratory volume (FEV) measures how much air a person can exhale during a forced breath. Forced vital capacity (FVC) is the total amount of air exhaled during the FEV test.
Assess change in Exploratory Gait Evaluation
Time frame: Compare baseline to Year 1 and Year 2 visits.
We may attempt to quantify gait using vibration sensors, activity monitors, or a portable walkway providing temporal spatial gait analysis.
Results and safety
The study was stopped early (reason given: After opening, the COVID-19 pandemic began, and the study was put on hold. Once we were able to resume the study, funds and resources were no longer available to continue and complete the study.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Jul 2026.
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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.
Zarife Sahenk, MD., PhD. principal investigator
Nationwide Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Charcot-Marie-Tooth Disease and Peripheral Neuropathy, run by Zarife Sahenk at 1 site in United States.
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 5 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: stopped early, as of the sponsor's last update on 29 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. 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 was stopped early (reason given: After opening, the COVID-19 pandemic began, and the study was put on hold. Once we were able to resume the study, funds and resources were no longer available to continue and complete the study.). Results are not available in the source record.
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?
Assess change in Manual Muscle Testing (MMT) (time frame: Compare baseline to Year 1 and Year 2 visits.). The study lists 9 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 29 Jul 2026.