Observational Study of Neuromuscular Function in CMT Type 1&2 and Healthy Controls

Completed

• Conditions: Charcot-Marie-Tooth Disease

• Registration Number: NCT04980807
• Lead Sponsor: NMD Pharma A/S

Brief Summary

The primary aim of this study is to discover whether patients with CMT type 1 and 2 have neuromuscular junction transmission deficits.

The secondary aim is to collect information of different clinical and electrophysiological test procedures to perform possible future clinical trials in CMT patients.

Detailed Description

The study is a prospective observational pilot study involving two investigational sites:

1. Department of Neurology, Arhus University Hospital

2. Department of Neurology, Ohio State University

A total of 20 patients with Charcot-Marie-Tooth (CMT) disease and 10 healthy age-matched controls will be included with each site including 10 CMT patients and 5 Healthy Controls. CMT patients will undergo electrophysiological (repetitive nerve stimulation and single fiber EMG analyses) and functional (different tests of muscle strength, fatigability, dexterity, and balance) testing on 4 separate occasions. Healthy controls will undergo electrophysiological testing at baseline only.

To assess whether patients with CMT have deficits in NMJ transmission, results from repetitive nerve stimulation and single fiber EMG analyses in CMT patients will be compared to those obtained in healthy controls at baseline. To inform future clinical trials, results relability and tolerability estimates obtained from sequential electrophysiological and functional tests will be calculated

Study Timeline

• Study Start: 2021-04-07
• Status Verified: 2021-07
• Study First Submitted: 2021-07-07
• Study First Submitted QC: 2021-07-19
• Study First Posted: 2021-07-28
• Primary Completion: 2022-03-03
• Study Completion: 2022-03-03
• Last Update Submitted: 2022-03-04
• Last Update Posted: 2022-03-07

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 30

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Repetitive Nerve Stimulation - difference between CMT patients and healthy controls	Baseline	Percentage decrement of CMAP for abductor pollicis brevis
Single Fiber Electro Myography (sfEMG) - difference between CMT patients and healthy controls	Baseline	Jitter

Secondary Outcome Measures

Name	Time	Method
Manual Muscle Testing - test reliability in patients with CMT	The test is performed at baseline and day 14, 28 and 42.	This test is a physical examination of muscle strength. 15 muscle groups/motions will be tested. 13 of these are tested bilaterally. A total score between (0-280) is calculated
9 Hole Peg Test - test reliability in patients with CMT	The test is performed at baseline and day 14, 28 and 42.	This is a test of finger dexterity
Isometric Dynamometry - test reliability in patients with CMT	The test is performed at baseline and day 14, 28 and 42.	This test will be used to evaluate maximum isometric strength
10-Meter Walk/run Test - test reliability in patients with CMT	The test is performed at baseline and day 14, 28 and 42.	This test measures how fast the participant can walk/run 10 meters.
Berg Balance Scale - test reliability in patients with CMT	The test is performed at baseline and day 14, 28 and 42.	The test measures balance during different functional tasks. A total score is calculated as the sum of the individual scores for each item, with maximum value 56, with a lower score meaning worse balance
Repetitive Nerve Stimulation - test reliability in patients with CMT	The test is performed at baseline and day 14, 28 and 42.	Percentage decrement of CMAP for abductor pollicis brevis
6-Spot Step Test - test reliability in patients with CMT	The test is performed at baseline and day 14, 28 and 42.	This test is a quantitative measure of lower extremity function
Timed Up and Go - test reliability in patients with CMT	The test is performed at baseline and day 14, 28 and 42.	This test measures how fast the participant can stand from a chair, walk 3 meters, turn around, return, and sit in the chair at a comfortable and safe pace
Single Fiber Electro Myography (sfEMG) - test reliability in patients with CMT	The test is performed at baseline and day 14, 28 and 42.	Jitter
6 Minute Walk Test - test reliability in patients with CMT	The test is performed at baseline and day 14, 28 and 42.	This test measures how far a person can walk in six minutes

Trial Locations

Locations (2)

Ohio State University; 🇺🇸 Columbus, Ohio, United States

Aarhus University Hospital; 🇩🇰 Aarhus, Jutland, Denmark