An Open Observational Study of Clinical and Electrophysiological Outcomes in Male and Female Patients With CMT Type 1 & 2, and Aged-matched Healthy Controls
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- NMD Pharma A/S
- Enrollment
- 30
- Locations
- 2
- Primary Endpoint
- Repetitive Nerve Stimulation - difference between CMT patients and healthy controls
Study Overview
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:
- Department of Neurology, Arhus University Hospital
- 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 Design
- Study Type
- Observational
- Observational Model
- Case Control
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- Not provided
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Repetitive Nerve Stimulation - difference between CMT patients and healthy controls
Time Frame: Baseline
Percentage decrement of CMAP for abductor pollicis brevis
Single Fiber Electro Myography (sfEMG) - difference between CMT patients and healthy controls
Time Frame: Baseline
Jitter
Secondary Outcomes
- Manual Muscle Testing - test reliability in patients with CMT(The test is performed at baseline and day 14, 28 and 42.)
- 9 Hole Peg Test - test reliability in patients with CMT(The test is performed at baseline and day 14, 28 and 42.)
- Isometric Dynamometry - test reliability in patients with CMT(The test is performed at baseline and day 14, 28 and 42.)
- 10-Meter Walk/run Test - test reliability in patients with CMT(The test is performed at baseline and day 14, 28 and 42.)
- Berg Balance Scale - test reliability in patients with CMT(The test is performed at baseline and day 14, 28 and 42.)
- Repetitive Nerve Stimulation - test reliability in patients with CMT(The test is performed at baseline and day 14, 28 and 42.)
- 6-Spot Step Test - test reliability in patients with CMT(The test is performed at baseline and day 14, 28 and 42.)
- Timed Up and Go - test reliability in patients with CMT(The test is performed at baseline and day 14, 28 and 42.)
- Single Fiber Electro Myography (sfEMG) - test reliability in patients with CMT(The test is performed at baseline and day 14, 28 and 42.)
- 6 Minute Walk Test - test reliability in patients with CMT(The test is performed at baseline and day 14, 28 and 42.)