A Phase 1/2 Open-Label Study to Evaluate the Safety, Tolerability and Efficacy of a Single Dose of ELP-02 Delivered Via Lumbar Intrathecal Administration in Charcot-Marie-Tooth-4J (CMT4J)
Elpida Therapeutics SPC
Summary
First-in-human Phase 1/2, open-label study to evaluate the safety, tolerability, and efficacy of a single lumbar intrathecal dose of ELP-02 to individuals with CMT4J.
Description
ELP-02 is an AAV9-based gene therapy vector that expresses the fully functional form of FIG4 under the control of a synthetic promoter. ELP-02 will be delivered intrathecally and is designed to achieve stable, potentially life-long expression of FIG4 in non-dividing cells. This clinical study is a first-in-human study designed to assess safety and tolerability of ELP-02 in individuals with CMT4J.
Eligibility
- Age range
- 3–20 years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Male and females between the ages of 3 and 20 years at the time of screening. * Molecularly-confirmed diagnosis of CMT4J (confirmed by a CLIA certified, CE-marked, or equivalent lab) due to bi-allelic pathogenic variants (by ACMG criteria) in the FIG4 gene where one of the mutations must be the pathogenic I41T variant, with the second mutation either being another pathogenic or likely pathogenic variant (by ACMG criteria). * Clinical signs and symptoms consistent with CMT4J disease/motor symptoms * No more than moderate severity of the disease as measured by a CMTPeds sc…
Interventions
- GeneticELP-02
ELP-02 is an AAV9-based gene therapy vector that expresses the fully functional form of FIG4 under the control of a synthetic promoter. ELP-02 will be delivered intrathecally and is designed to achieve stable, potentially life-long expression of FIG4 in non-dividing cells.
Locations (2)
- Stanford UniversityPalo Alto, California
- University of IowaIowa City, Iowa