Clinical Trials for inherited retinal diseases (IRDs)

Jump to: Achromatopsia | Choroideremia | Leber Congenital Amaurosis (LCA) | Leber Hereditary Optic Neuropathy (LHON) | Retinitis Pigmentosa (RP) | Stargardt Disease | Usher Syndrome | X-Linked Retinitis Pigmentosa (XLRP) | X-Linked Retinoschisis (XLRS)

On this page you can find a list of active, innovative clinical trials for inherited retinal diseases, such as retinitis pigmentosa and Stargardt disease. You can find a list of active clinical trials for age-related macular degeneration (AMD) and diabetes-related eye disease here.

Where available, the following information is included for each trial:

• Type of treatment, such as gene therapy, stem cell therapy or a drug
• Gene and mutation, or cell type
• Drug name (alternative or brand name in brackets)
• Trial sponsor and phase (TRIAL NAME capitalized in brackets)
• Other information including if there is a Canadian trial site, or links to updates
• Clinicaltrial.gov number. This will link out to trial page on the clinicaltrials.gov website

You can find more information about these or other clinical trials at ClinicalTrials.gov. This website can be a good place to start your research. However, trials listed may not be approved by the FDA, meet basic safety standards or be appropriate for you. Always consult your doctor before participating in any trial.

ACHROMATOPSIA

• Gene therapy: CNGA3 (AGTC-402), Beacon Therapeutics, Phase 1/2 (CLARITY), NCT02935517
• Gene therapy: CNGB3 (AGTC-401), Beacon Therapeutics, Phase 1/2 (CLARITY), NCT02599922
• Gene therapy: CNGA3, STZ eye trial (COLOURBRIDGE), Phase 1/2, Update (2021), NCT02610582

CHOROIDEREMIA

• Optogenetic: KIO-301 (ABACUS), Kiora Pharmaceuticals, Phase 1/2, Update (2025) (2024), (2023), NCT05282953
• Optogenetic: RTx-015 (ENVISION), Ray Therapeutics, Phase 1, Update (2025), NCT06460844

LEBER CONGENITAL AMAUROSIS (LCA)

• Gene therapy: LCA1, GUCY2D (ATSN-101), Atsena Therapeutics, Phase 1/2, Update (2024), NCT03920007
• Gene therapy: RPE65, HG004 (STAR – US), (LIGHT – China), HuidaGene Therapeutics, Phase 1/2, Update (2024), NCT05906953, NCT06088992
• Gene therapy: LCA10, CEP290 (Sepofarsen), Laboratories Thea (HYPERION), Phase 3, NCT06891443
• Gene therapy: CEP290 (OCU400), Ocugen, Phase 1/2, Update (2024), (2023), NCT05203939
• Gene therapy: OPGx-001 (LCA5-IRD), Opus Genetics, Phase 1/2, Update (2025), (2024), NCT05616793

LEBER HEREDITARY OPTIC NEUROPATHY (LHON)

• Gene Therapy: Mutation G11778A in mitochondrial DNA (Lumevoq, rAAV2/2-ND4/GS010), GenSight Biologics (REFLECT), Phase 3, Update (2025), NCT03293524
• Gene Therapy: ND4, NR082, Neurophth Therapeutics, Phase 1/2, Update (2024), NCT05293626, NCT04912843

RETINITIS PIGMENTOSA (RP)

• Cell therapy: OpCT-001(CLARICO), BlueRock Therapeutics, Phase 1/2, Update (2025), NCT06789445
• Cell therapy: neural progenitor cells, CNS10-NPC, Cedars-Sinai Medical Center, Phase 1, Update (2019), NCT04284293
• Cell therapy: retinal progenitor cells, Centre d’Etude des Cellules Souches, Phase 1/2, Update (2023), NCT03963154
• Cell therapy: Famzeretcel (8.8M jCell), jCyte, Phase 2, Update (2025), NCT06912633
• Cell therapy: DSP-3077, Sumitomo Pharma America, Phase 1/2, Update (2024), NCT06891885
• Drug: Gene agnostic, N-acetylcysteine, Johns Hopkins University (NAC Attack), Canadian trial sites, Phase 3, Update (2024), (2022), NCT05537220
• Drug: Disulfiram, University of Washington, Phase 1/2, Update (2024), NCT05626920
• Drug: Disulfiram, University of Rochester, Phase 1, Update (2024), NCT06319872
• Gene Therapy: Gene-agnostic (SPVN06), SparingVision, Phase1/2 (PRODYGY), Update (2025), (2024), NCT05748873
• Gene Therapy: OCU400 (liMeliGhT), Ocugen, Canadian trial sites, Phase 3, Update (2025), (2024), NCT06388200
• Gene Therapy: NR2E3 and RHO (OCU400), Ocugen, Phase 1/2, Update (2025), (2024), NCT05203939 
• Gene therapy: PDE6B, Coave Therapeutics, Phase 1/2 Update (2024), (2023) , NCT03328130
• Gene therapy: PDE6A, STZ eye trial (PIGMENT), Phase 1/2, Update (2023), NCT04611503
• Gene therapy: RLBP1 (CPK850), Novartis, Phase 1/2, NCT03374657
• Gene Therapy: CNGA1 (VG901), VeonGen Therapeutics, Phase 1, Update (2025), NCT06291935
• RNA Therapy: RP11, PRPF31, PYC Therapeutics (Platypus), Phase 1/2, Update (2025), NCT05902962
• Optogenetic: BS01, Bionic Sight, Phase 1/2, Update (2025), (2023), NCT04278131
• Optogenetic: GS030, GenSight Biologics (PIONEER), Phase 1/2, Update (2023) NCT03326336
• Optogenetic: KIO-301 (ABACUS), Kiora Pharmaceuticals, Phase 1/2, Update (2024), (2023) NCT05282953
• Optogenetic: vMCO-010, Nanoscope (RESTORE), Phase 2, Completed, NCT04945772
• Optogenetic: RTx-015 (ENVISION), Ray Therapeutics, Phase 1, Update (2025), NCT06460844
• RNA therapy: RHO P23H (QR-1123), ProQR Therapeutics (AURORA), Phase 1/2, Paused, NCT04123626

STARGARDT DISEASE

• Drug: ABCA4, (ALK-001), (TEASE), Alkeus Pharmaceuticals , Phase 2, Update (2025), (2024), NCT02402660 
• Drug: Metformin, National Eye Institute, Phase 1/2, Update (2024), NCT04545736 
• Drug: Tinlarebant (STGD1), Belite Bio (DRAGON), Phase 3, Update (2025), (2024), NCT05244304, (DRAGON II), Phase 2/3, NCT06388083
• Gene therapy: OCU410ST, Ocugen (GARDian), Phase 1/2, Update (2025), (2024), NCT05956626
• Gene therapy: SB-007, (STGD1), Splice Bio (ASTRA), Phase 1/2, Update (2025), NCT06942572
• Gene therapy: VG801 (ABCA4), VeonGen Therapeutics, Phase 1/2, Update (2025), NCT07002398
• RNA editing therapy: ABCA4, ACDN-01 (STELLAR), Ascidian Therapeutics, Phase 1/2, Update (2024), NCT06467344

USHER SYNDROME

• Cell therapy: OpCT-001(CLARICO), BlueRock Therapeutics, Phase 1/2, Update (2025), NCT06789445
• Drug: N-acetylcysteine, Johns Hopkins University (NAC Attack), Canadian trial site, Phase 3, Update (2022), NCT05537220
• Drug: Ultevursen (USH2A), Laboratoires Thea (LUNA), Update (2024), NCT06627179
• Gene Therapy: AAVB-081 (USH1B), AAVantgarde Bio, Phase1/2, Update (2024), NCT06591793
• Drug: NPI-001, Nacuity Pharmaceuticals (SLO RP), Phase 1/2, Update (2025), (2023), NCT04355689

X-LINKED RETINITIS PIGMENTOSA (XLRP)

• Gene therapy: RPGR, AGTC-501 (SKYLINE), Beacon, Phase 2, Update (2024), NCT06333249
• Gene therapy: RPGR, AGTC-501 (VISTA), Beacon, Phase 2/3, Update (2025), (2024) NCT04850118
• Gene therapy: RPGR, 4D-125, 4D Molecular Therapeutics, Phase 1/2, Update (2022) NCT04517149
• Gene Therapy: RPGR, FT-002, Frontera Therapeutics, Early Phase 1, Update (2024), NCT05874310

X-LINKED RETINOSCHISIS

• Gene therapy: RS1 (ATSN-201 Injection), Atsena Therapeutics (LIGHTHOUSE), Phase 1/2, Update (2025), (2024), NCT05878860

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This page was last updated on September 2, 2025.