This presentation will describe some of the clinical, regulatory, and CMC challenges encountered in the development program for voretigene neparvovec-rzyl for use in patients with vision loss due to biallelic <i>RPE-65</i>associated inherited retinal dystrophy. From a translational standpoint, a large animal model (Briard dogs) provided robust nonclinical proof of concept. However, developing a clinical program to support the regulatory approval of a gene therapy for a rare inherited retinal disease for which there were no other treatments available at the time was far from straightforward. For this program, a novel primary endpoint was developed (the multi-luminance mobility test or MLMT), that was relevant to the clinical deficits specific to this condition.  Other clinical, regulatory and CMC challenges had to be overcome. Gene therapy trials require long-term follow-up of clinical trial participants, and this is currently ongoing. There are unique challenges associated with the development of gene therapies for rare diseases where no approved product currently exists. It is critically important to engage early and often with patients, families, advocacy groups, researchers, investigators and regulators, to ensure that the clinical development and regulatory strategies support the demonstration of efficacy and safety in individuals with rare diseases.

Turning gene therapy into medicine: Approval of LUXTURNA™ (voretigene neparvovec-rzyl)

Macromolecular Chemistry: The Second Century

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ACS Spring 2020 National Meeting & Expo

The official archive and repository for all ACS Meetings & Expositions abstracts and select posters or presentations.