OVERVIEW

Transforming Inherited Retinal Disease Treatment Through Gene Therapy: It Will Take a Village is organized by Healio, Vindico Medical Education.

This enduring material is approved for 1 year from the date of original release, February 11, 2022, to February 10, 2023.

Activity Description:
Inherited retinal diseases (IRDs) are a heterogeneous group of disorders caused by 1 or more of 300 different genes that affect approximately 1 in 2000 persons. Timely workup of patients with a suspected IRD is imperative, and the utilization of genetic testing is a valuable tool for determining an accurate diagnosis and for identifying causative genetic mutations. Discussion of these findings through genetic counseling with patients and their families allows for assessment of risk to family members, identification of appropriate treatment, or eligibility for enrollment into clinical studies. The US Food and Drug Administration’s approval of the first gene therapy to treat IRD biallelic RPE65 mutation-associated retinal dystrophy has advanced the field of gene therapy in IRDs. Several gene therapy candidates for the treatment of IRDs are currently in clinical studies, and several of these novel therapies are moving into late-stage development. Together, these advances highlight the need for genetic testing, genetic counseling, and familiarity with ongoing clinical studies for the optimal management of patients with IRDs. In this monograph, experts in the field examine the prevalence of IRDs; assess the need for an extensive diagnostic evaluation and workup; review the importance and interpretation of genetic testing in the evaluation of patients with a suspected IRD; as well as assess emerging gene therapies, including their mechanisms of action, efficacy, and safety for the management of patients with IRDs.

Learning Objectives:
Upon successful completion of this activity, participants should be better able to:
• Examine the prevalence of inherited retinal diseases and the need for an extensive diagnostic evaluation and workup.
• Detail the importance, use, and interpretation of genetic testing in the evaluation of patients with suspected inherited retinal diseases.
• Assess emerging gene therapies and their mechanisms of action, efficacy, and safety in patients with inherited retinal diseases.