A Wrap-Up of Ophthalmologic Cell And Gene Therapies Currently in Development


A multitude of promising new investigative therapies are on the horizon for inherited retinal disease.

This article was originally posted on genetherapylive.

Cell and gene therapies are currently being evaluated as possible avenues of treatment for multiple inherited retinal diseases in the field of ophthalmology. Here we highlight the most promising therapies currently in development.

Age-Related Macular Degeneration (AMD)

GT005 is a gene therapy by Gyroscope Therapeutics currently being evaluated in the recruiting phase 1/2 FocuStrial (NCT03846193) for the treatment of dry AMD. The company announced positive interim data in February 2021.

Regenerative Patch Technologies is developing the cell therapy CPCB-RPE1 for the treatment of geographic atrophy (GA) in dry AMD. It is being evaluated in 16 participants in a phase 1/2 trial (NCT02590692), positive data from which were presented in June 2021.

The cell therapy ASP7317 (Astellas Pharma) is being developed for GA in dry AMD and is being evaluated in 18 participants in a phase 1 trial (NCT03178149).

AAVCAGsCD59/HMR1002, a gene therapy developed by Hemera Biosciences for the treatment of wet AMD, is being evaluated in 25 participants enrolled in an ongoing phase 1 clinical trial (NCT03585556).

Regenxbio’s gene therapy RGX-314 is being evaluated in the recruiting phase 2/3 ATMOSPHERE trial (NCT04704921) for the treatment of wet AMD. Regenxbio presented positive initial data at the Retina Society 54th Annual Scientific Meeting in October 2021.

Adverum Biotechnologies is developing the gene therapy ADVM-022 for wet AMD, which is being evaluated in the phase 1 OPTIC trial (NCT03748784). The company plans to initiate a phase 2 trial after observing positive results in the OPTIC trial presented at the Retina Society meeting. The therapy was also being evaluated in diabetic macular edema, but that development was halted after serious adverse events, including irreversible vision loss, were seen in participants in the phase 2 INFINITY trial (NCT04418427).

Leber congenital amaurosis (LCA)

Editas’ Medicine’s gene editing therapy, EDIT-101, is being evaluated in LCA type 10 in the phase 1/2 BRILLIANCE trial (NCT03872479). Data presented at the XIXth International Symposium on Retinal Degeneration demonstrated efficacy in some patients as well as safety concerns such as retinal tears and hemorrhage.

The gene therapy rAAV2-CBSB-hRPE65 is being developed by University of Pennsylvania and National Eye Institute. The therapy is being evaluated in 15 participants ina phase 1 trial (NCT00481546).

Sepofarsen (QR-110) is an RNA antisense oligonucleotide in development by ProQR Therapeutics. The therapy is being evaluated in the phase 2/3 ILLUMINATE trial (NCT03913143), results from which were published in Nature Medicine in April 2021. The last patient completed their last, 12-month visit in January 2022.

MeiraGTX's gene therapy cevaretigene ritoparvovec/AAV RPE65 met the primary endpoints in the phase 1/2 OPTIRPE65 trial (NCT02781480) in 2019. Additional clinical progress is expected in 2022.

Leber hereditary optic neuropathy

Gensight Biologics’ gene therapy GS010 has so far demonstrated positive data in 90 participants in the phase 3 REFLECT trial (NCT03293524), including statistically significant improvements in visual acuity.


4D-110 is 4D Molecular Therapeutics’ gene therapy currently being evaluated in a recruiting phase 1 study (NCT04483440). The therapy has been well-tolerated in the low-dose cohort but serious adverse events (AEs) were observed in the high-dose cohort.

The University of Alberta is studying the gene therapy RAAV2.REP1 in 6 participants in a phase 1/2 (NCT02077361). Positive 5-year results were presented at The Association for Research in Vision and Ophthalmology (ARVO) 2021 meeting.

The University of Oxford is studying a similar RAAV2.REP1 gene therapy in 30 participants in a phase 2 trial (NCT02407678).


STZ eyetrial’s gene therapy RAAV.hCNGA3 is being evaluated in the recruiting phase 1/2 Colourbridge trial (NCT02610582).

Applied Genetic Technologies is developing AGTC-401 (NCT02599922) and AGTC-402 (NCT02935517) for CNGB3 and CNGA3 achromatopsia, respectively. Both phase 1/2 trials have demonstrated tolerable safety profiles for the gene therapies.

MeiraGTX is also developing gene therapies for both CNGB3 and CNGA3 achromatopsia. AAV – CNGB3 (NCT03001310) and AAV – CNGA3 (NCT03758404) are both in phase 1/2 studies.

Retinitis Pigmentosa (RP)

QR-1123 is another antisense oligonucleotide from ProQR Therapeutics being evaluated in the recruiting phase 1/2 AURORA trial (NCT04123626) for RHO-RP.

MeiraGTX’s gene therapy AAV2-RPGR has demonstrated positive data in X-linked RP (XLRP) in a phase 1/2 study (NCT03252847). The therapy will be further evaluated in the phase 3 Lumeos trial (NCT04671433).

Positive efficacy data from Applied Genetics’ phase 1/2 trial (NCT03316560) of the gene therapy AGTC-501/rAAV2tYF-GRK1-RPGR was presentedat the American Academy of Ophthalmology (AAO) 2021 Annual Meeting. The therapy is being further evaluated in the phase 2/3 VISTA trial(NCT04850118) for XLRP.

4D’s gene therapy 4D-125 was well-tolerated for XLRP in a phase 1/2 trial(NCT04517149), according to data presented at the 2021 American Society of Retina Specialists (ASRS) 39th Annual Meeting.

The National Eye Institute is evaluating RS1 AAV in a phase 1/2 trial (NCT02317887) for XLRP.

Coave Therapeutics’ gene therapy CTx-PDE6b (AAV2/5-hPDE6B)is being evaluated for PDE6b-RP in a phase 1/2 trial (NCT03328130).

GenSight’s GS030-DP gene therapy in combination with the GS030-MD optogenetic device has shown positive efficacy and safety data in treating end-stage blindness in RP. These data, from a phase 1/2 trial (NCT03326336), were presented at the 2021 AAO meeting.

Novartis is evaluating their gene therapy CPK805 in RLBP1-RP in a first in-human phase 1/2 trial (NCT03374657) that is currently recruiting.

ProQR’s ulteversen/QR-421a gene therapy showed efficacy in the phase 1/2 Stellar trial (NCT03780257) for Usher syndrome and RP in March 2021. ProQR plans to soon advance the program into finalstage clinical testing.

The gene therapy RST-001 is being evaluated in a phase 1/2 trial (NCT02556736). Updates have been sparse for the therapy, which was developed by RetroSense Therapeutics, which was acquired by Allergan in 2016, which was then acquired by Abbvie in 2020.

The first 4 patients treated in the phase 1/2 trial (NCT04278131) of BS01 are able to detect light and motion, Bionic Sight announced in March 2021. The trial continues to enroll participants.

Nanoscope Therapeutics’ vMCO-I/MCO-010is being evaluated in a phase 1/2 trial (NCT04919473). Positive data in participants with autosomal recessive RP were presented at the ASRS 2021 meeting.

STZ eyetrial’s gene therapy rAAV.hPDE6A is being evaluated for PDE6A-RP in the recruiting phase 1/2 Pigment trial (NCT04611503).

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