An Open Observational Study of Clinical and Electrophysiological Outcomes in Male and Female Patients With CMT Type 1 & 2, and Aged-matched Healthy Controls
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.
• 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
• Healthy male or female volunteers
• Age ≥18 years
• Able to give written informed consent