Although there are many ophthalmic conditions with a genetic cause, there are also numerous ongoing studies of gene therapies for IRDs. The first of these agents to receive regulatory approval was voretigene neparvovec, and learnings from the clinical trial program of voretigene neparvovec are expected to inform future development of ocular gene therapies in broader patient groups.
In the clinical management of individuals with IRDs, improvements in the identification and diagnosis of patients are needed. Options are available to IRD patients beyond gene therapy, such as prenatal or preimplantation genetic diagnosis, but in each case the identification of the causative gene is required. Referral of all IRD patients to an IRD super-specialist is therefore advisable, so that the molecular diagnosis can be confirmed and treatment provided, if available. Indeed, early clinical experience with voretigene neparvovec has demonstrated the importance of expert treatment specialist centers to provide an optimum standard of care for patients with IRDs. These experiences are applicable to the development of future ocular gene therapies.
“To conclude, voretigene neparvovec is a truly life-changing treatment which improves visual function and retinal sensitivity, which in turn improves the patient’s ability to perform activities of daily living,” said Dr. Leroy. “The first patients have been treated successfully in several countries. Moving forward, positive collaborations between the referring clinician and the IRD super-specialist will be required for this ground-breaking treatment to be implemented most effectively.”
In collaboration with I. Audo, S. Mohand-Said, P.O. Barale, G. Bouters, C. Devisme, C. Pagot, and the teams from the National Reference Center REFERET and STREETLAB.
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