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INNOVATIVE THERAPIES WELCOME NEW POSSIBILITIES

Science is advancing

Today, there is an FDA- and EMA-approved gene therapy for an inherited retinal disease caused by biallelic variants in the RPE65 gene.1-3 Over 30 clinical trials are either completed or underway for different types of inherited retinal diseases, such as retinitis pigmentosa, X-linked retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), achromatopsia (ACHM), Usher syndrome, and Stargardt disease.4

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.5

Evolution of genetic testing

To date, more than 270 genes related to inherited retinal diseases have been identified6,7

A line graph showing identified retinal disease genes increasing from 0 in January 1988 to 270 in January 2018.
A line graph showing identified retinal disease genes increasing from 0 in January 1988 to 270 in January 2018.

RetNet, The Retinal Information Network,https://sph.uth.edu/retnet. Accessed September 2021, reproduced with permission, Stephen P. Daiger, PhD, and the Foundation Fighting Blindness. Text and format changes added by Janssen, Inc., with permission.

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.6 Innovations in genetic testing empower you to more precisely confirm your patient’s diagnosis.

*Indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy.

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Your one action today may save their vision tomorrow. Test or retest your patients’ genes to confirm their inherited retinal disease.

Steps for genetic testing

Get an overview of the genetic testing process and learn the significance of partnering with a genetic counselor.

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  1. Bakall B, Hariprasad SM, Klein KA. Emerging gene therapy treatments for inherited retinal diseases. Ophthalmic Surg Lasers Imaging Retina. 2018;49(7):472-478.
  2. Public Health – Union Register of medicinal products. Union Register of medicinal products for human use. Updated May 2, 2021. Accessed August 2, 2021. https://ec.europa.eu/health/documents/community-register/html/h1331.htm
  3. LUXTURNA [package insert]. Spark Therapeutics, Inc; 2017.
  4. Inherited retinal disease. ClinicalTrials.gov. Accessed July 26, 2021. https://clinicaltrials.gov/ct2/results?term=gene+therapy&cond=inherited+retinal+disease&Search=Apply&recrs=b&recrs=a&recrs=f&recrs=d&age_v=&gndr=&typ%E2%80%A6
  5. Vázquez-Domínguez I, Garanto A, Collin RWJ. Molecular therapies for inherited retinal diseases—current standing, opportunities and challenges. Genes (Basel). 2019;10(9):654-684.
  6. Daiger S. Mapped and identified retinal disease genes. RetNet 2021. Accessed July 26, 2021. https://sph.uth.edu/retnet/sum-dis.htm
  7. Branham K, Schlegel D, Fahim AT, Jayasundera KT. Genetic testing for inherited retinal degenerations: triumphs and tribulations. Am J Med Genet C Semin Med Genet. 2020;184(3):571-577.
  8. Lee JH, Wang JH, Chen J, et al. Gene therapy for visual loss: opportunities and concerns. Prog Retin Eye Res. 2019;68:31-53.
  9. Achromatopsia Gene Therapy. US National Library of Medicine, US National Institutes of Health, and US Department of Health & Human Services. Accessed June 5, 2021. https://clinicaltrials.gov/ct2/show/NCT03758404?recrs=e&cond=Achromatopsia&draw=2&rank=2
  10. Stargardt Disease. NIH, US National Library of Medicine. 2020;1-13. Accessed June 12, 2021. https://clinicaltrials.gov/ct2/results? recrs=&cond=Stargardt+Disease&term=&cntry=&state=&city=&dist=
  11. Leber Congenital Amaurosis. NIH, US National Library of Medicine. 2021;1-4. Accessed June 19, 2021. https://clinicaltrials.gov/ct2/show/ NCT02781480
  12. Fry LE, Peddle CF, Barnard AR, McClements ME, MacLaren RE. RNA editing as a therapeutic approach for retinal gene therapy requiring long coding sequences. Int J Mol Sci. 2020;21(3):777.

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