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

NCT04980807 | Completed

• 1 other identifier: CMT Observational
• Study Type: observational
• Target: 30
• Locations: 2 countries
• Sites: 2

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.

Conditions

Charcot-Marie-Tooth Disease

Keywords

Neuromuscular Junction Transmission; Repetitive Nerve Stimulation; Neuromuscular Disease; Single Fiber EMG

Outcome Measures

Primary Outcomes (4)

• Repetitive Nerve Stimulation - difference between CMT patients and healthy controls

  Percentage decrement of CMAP for the trapezius

  Baseline

• Repetitive Nerve Stimulation - difference between CMT patients and healthy controls

  Percentage decrement of CMAP for abductor pollicis brevis

  Baseline

• Single Fiber Electro Myography (sfEMG) - difference between CMT patients and healthy controls

  Percentage blocking

  Baseline

• Single Fiber Electro Myography (sfEMG) - difference between CMT patients and healthy controls

  Jitter

  Baseline

Secondary Outcomes (12)

• Isometric Dynamometry - test reliability in patients with CMT

  The test is performed at baseline and day 14, 28 and 42.

• 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.

• 6-Spot Step Test - 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.

Other Outcomes (4)

• CMTES2 Score

  This test is performed at baseline in individuals with CMT disease

• Adverse Events

  At baseline for healthy controls and from baseline until final visit at day 42 for CMT patients

• Tolerability of test procedures

  Performed for each test at each visit (baseline, day 14, 28 and 42)

Study Arms (2)

CMT Patients

Individuals with Charcot-Marie-Tooth Disease Types 1 and 2.

Healthy Controls

Healthy age-matched volunteers

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Eligible CMT patients will be invited to participate at the respective study sites. Age matched healthy volunteers will be recruited through advertisement at the respective study sites

You may qualify if:

• Age ≥ 18 years
• Diagnosis of CMT confirmed by:
• Clinical presentation and electro diagnostics or genetics
• Physical Features (all must apply): 1) Ambulation for at least 10 meters, without a brace 2) Left and right ankle plantar flexion Medical Research Council (MRC) grade 2 to 5, inclusive 3) Left and right ankle dorsiflexion MRC manual muscle testing (MMT) grade 2 to 4+, inclusive.
• Ability to adhere to the study visit schedule/procedures, and to understand and comply with protocol requirements
• Stable concomitant medications for 2 months prior to enrolment
• Signed written informed consent

You may not qualify if:

• Severe deformity or ankle contracture that would sufficiently limit passive range of motion to affect assessment of dorsiflexion strength
• Ulceration that would interfere with functional ability
• Recent major surgery
• Significant change in physical activity or exercise (e.g., significant increase or decrease in intensity or frequency) within 8 weeks before Study Day 1 or inability to maintain the baseline level of physical activity throughout the study
• Any disability or condition that would prevent completion of the study tasks
• Moderate to severe Neuropathic or inflammatory/musculoskeletal pain that would interfere with performance of the tests
• A diagnosis of a primary NMJ disorder such as myasthenia gravis, Lambert Eaton Myasthenic Syndrome or congenital myasthenic disorder
• Healthy male or female volunteers
• Age ≥18 years
• Able to give written informed consent
• Pregnant
• Requiring prescription medicines likely to interfere with electromyography (EMG) recordings
• Presence of current or previous medical condition which might interfere with participation in the study

Sponsors & Collaborators

• NMD Pharma A/S: lead
• Aarhus University Hospital: collaborator
• Ohio State University: collaborator

Study Sites (2)

Ohio State University

Columbus, Ohio, 43210, United States

Location

Aarhus University Hospital

Aarhus, Jutland, 8200, Denmark

Location

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease; Neuromuscular Diseases

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Henning Andersen, MD, PhD

  Aarhus University Hospital

  PRINCIPAL INVESTIGATOR

• William D Arnold, MD

  Ohio State University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 7, 2021
• First Posted: July 28, 2021
• Study Start: April 7, 2021
• Primary Completion: March 3, 2022
• Study Completion: March 3, 2022
• Last Updated: March 7, 2022

Record last verified: 2021-07

Data Sharing

• IPD Sharing: Will not share

Locations

DK (1); US (1)