NT-3 Levels and Function in Individuals With CMT

Primary outcomes

1. 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.

2. 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.

3. 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).

4. 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.

5. 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.

6. 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).

7. 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.

8. 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.

9. 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.