Promising ROd-cone DYstrophy Gene therapY
Trial Parameters
Brief Summary
This is a two-step, multicenter, Phase I/II study including an open-label dose-escalation phase (Step 1) and a three-arm, controlled, double-masked, randomized extension phase (Step 2), in subjects with advanced RCD due to a mutation in the RHO, PDE6A, or PDE6B gene.
Eligibility Criteria
Inclusion Criteria: Subjects will be eligible to participate in this study only if all the following criteria apply: 1. Able to give signed informed consent and comply with the requirements and restrictions listed in the informed consent form (ICF) and in the protocol. 2. Age ≥18 years at the time of ICF signature. 3. Subjects of either gender previously diagnosed with advanced RCD due to biallelic mutations in the rod cGMP phosphodiesterase 6 beta (PDE6B) or rod cGMP phosphodiesterase alpha (PDE6A) genes, or due to a monoallelic dominant mutation in the rhodopsin (RHO) gene. The genotyping results must be documented before the initiation of the Screening Visit. Subjects should be retested by the investigator if their genotyping tests were not performed within the 7 previous years, or if they were not performed by an accredited laboratory. In this case, the screening period can be prolonged for 2 additional weeks to allow time to generate genotyping results. 4. Advanced stage is define