A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A.

Ki vehet részt

• Provide written informed consent before any assessment is performed
• Be male or female and 18 to 60 (inclusive) years of age at the time of screening
• Participant must have a clinical diagnosis of Charcot-Marie-Tooth Disease Type 1A (CMT1A) including verified documentation of genetic testing showing duplication of the PMP22 gene by an accredited/certified laboratory (according to local regulations)
• Have detectable upper extremity nerve conduction velocities (sensory and/or motor) in at least one extremity at screening
• CMTNSv2R score >2 and ≤20 in at least one assessment, confirmed either at the baseline visit or documented in the medical record within the 6 months prior to baseline
• Muscle weakness evidenced by foot dorsiflexion MRC grade <5 in at least one limb, confirmed either at screening assessment or documented in the medical record within the 6 months prior to screening

Ki nem vehet részt

• Use of any drug intended to modify the course of CMT1A within 6 months from screening, including but not limited to: PTX-3003 (baclofen, sorbitol, and naltrexone in combination)
• History of cardiac, renal, liver, hematological, immune system disorders
• History of compression neuropathy within the last 6 months from screening and/or other conditions that can cause peripheral neuropathy, including but not limited to diabetes, chronic alcoholism, exposure to neurotoxic medications, exposure to environmental neurotoxins, traumatic nerve injury, thyroid disease, or infections; Other protocol-defined inclusion/exclusion criteria may apply
• Unable to communicate well with the investigator, to understand and comply with the visits and procedures of the study
• Pregnant/nursing female participants. Women of child-bearing potential, defined as all women physiologically capable of becoming pregnant, unless they are using highly effective methods of contraception during dosing and for the duration of the follow-up period. Sexually active males unless they use a condom during intercourse
• Inability or unwillingness to provide serial skin biopsy samples
• Inability or unwillingness to undergo repeated venipuncture or in the opinion of the investigator, participant would be at an increased risk for adverse events related to these procedures