Innovative therapies welcome new possibilities
Science is advancing
Numerous clinical trials are underway and an approved gene therapy treatment is available, indicated for patients with confirmed biallelic RPE65 mutation-associated retinal disease.[1][2] Numerous clinical trials are either completed or underway for the treatment of different types of IRDs, such as retinitis pigmentosa, X-linked retinitis pigmentosa (XLRP), Leber congenital amaurosis (LCA), achromatopsia (ACHM), Usher syndrome, and Stargardt disease.[1][2][3][4][5][6]
These trials explore the potential of gene therapy and several other technologies. The rise of innovative gene therapy and therapeutic interventions potentially marks the beginning of a new era in inherited retinal disease care.[7]
Evolution of genetic testing
To date, more than 300 genes related to inherited retinal diseases have been identified[8][9]
Identified Retinal Disease Genes
As science continues to advance, uncovering more genes related to inherited retinal diseases, genetic testing technology also continues to evolve. In the past 10 years, approximately 100 new genes related to inherited retinal diseases have been discovered.[10] Innovations in genetic testing empower you to more precisely confirm your patients’ diagnoses.
Numerous clinical gene therapy trials are either completed or underway
*Indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal disease.
References
- ClinicalTrials.gov. Inherited Retinal Diseases. Active studies in Europe. Last accessed May 2024.
- FDA News Release. FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss. Last accessed: May 2024.
- ClinicalTrials.gov. Safety and Efficacy of rAAV.hCNGA3 Gene Therapy in Patients With CNGA3-linked Achromatopsia (Colourbridge) (NCT02610582). Last accessed: May 2024.
- ClinicalTrials.gov. Study of SAR421869 in Participants With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B. (NCT01505062). Last accessed: May 2024.
- ClinicalTrials.gov. Trial of Subretinal Injection of (rAAV2-VMD2-hMERTK) (NCT01482195). Last accessed: May 2024.
- ClinicalTrials.gov. Gene Therapy for Blindness Caused by Choroideremia (NCT01461213). Last accessed: May 2024.
- ClinicalTrials.gov. Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations (LCA) (NCT00481546). Last accessed: May 2024.
- F Arabi et al. Biomed & Pharma. 2022; 153:113324.
Breakthrough science in eye care
Novel gene therapy trials are underway for a wide range of inherited retinal diseases, and more are on the horizon. Retinal specialists may soon have effective treatment options in their armamentarium.[1] There are several approaches to gene therapies under investigation:
Gene replacement therapy, also known as augmentation therapy, works by inserting normal copies of the mutated gene into the host cells[7]
Gene editing corrects the gene variant directly within the host DNA[11]
RNA editing edits the RNA, not the DNA. This enables the editing of pathogenic variants at a transcript level[11]
Your one action today may save their vision tomorrow. Test or retest your patients’ genes to confirm their inherited retinal disease.
Get an overview of the genetic testing process and learn the significance of partnering with a genetic counsellor.
Stay informed
We would like to stay in touch with you to share updates on the latest medical and scientific developments, as well as resources to complement your patient care. Additionally, we'll keep you informed about both local and international events, including medical education accredited learning resources.
