Charcot-Marie-Tooth Disease, Type 1A
Conditions
Keywords
CMT1A
Brief summary
The purpose of this study is to characterize the safety, tolerability, and pharmacokinetics of EDK060 as compared to placebo in adult patients with CMT1A.
Interventions
DRUGEDK060, dose A
EDK060, dose A, Single dose, IV infusion
DRUGEDK060, dose B
EDK060, dose B, Single dose, IV infusion
DRUGEDK060, dose C
EDK060, dose C, Single dose, IV infusion
DRUGEDK060, dose D
EDK060, dose D, Single dose, IV infusion
OTHERPlacebo
Placebo
Sponsors
Novartis Pharmaceuticals
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
TRIPLE (Subject, Caregiver, Investigator)
Eligibility
Sex/Gender
ALL
Age
18 Years to 60 Years
Healthy volunteers
No
Inclusion criteria
* 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.
Exclusion criteria
* Unable to communicate well with the investigator, to understand and comply with the visits and procedures of the study. * History of cardiac, renal, liver, hematological, immune system disorders. * 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. * 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 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/
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Incidence and severity of Adverse Events (AEs) and Serious Adverse Events (SAEs) | From baseline up to day 140 | Incidence of AEs and SAEs by treatment group, including changes in vital signs, laboratory measures, neurological examinations and electrophysiology measures qualifying and reported as AEs. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| EDK060 Plasma PK parameters - Cmax | From baseline up to day 140 | The maximum (peak) observed EDK060 plasma concentration after single dose administration (mass x volume-1) |
| EDK060 Plasma PK parameters - Tmax | From baseline up to day 140 | The time to reach maximum (peak) plasma, EDK060 concentration after single dose administration (time) |
| EDK060 Plasma PK parameters - AUClast | From baseline up to day 140 | The area under the concentration-time curve of EDK060 from time zero to the last measurable concentration sampling time (tlast) (mass x time x volume-1) |
Countries
Canada
Contacts
CONTACTNovartis Pharmaceuticals
Outcome results
None listed