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.
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 Type
OBSERVATIONAL
Enrollment
50
blood draw
Nationwide Children's Hospital
Columbus, Ohio, United States
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.
Time frame: 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.
Time frame: 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).
Time frame: 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.
Time frame: Compare baseline to Year 1 and Year 2 visits.
Assess change in Abilities Captured Through Interactive Video Evaluation (ACTIVE)
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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.
Time frame: 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).
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: Compare baseline to Year 1 and Year 2 visits.