| Therapy/Product | Type | NCT Number | Phase | Sponsor | Status | Route of Administration | Key Results | MAXO term |
|---|---|---|---|---|---|---|---|---|
| ATSN-101 | Gene augmentation; AAV-based GUCY2D replacement therapy | NCT03920007 | Phase I/II | Atsena Therapeutics Inc. | Active, not recruiting; 15 participants | Unilateral subretinal injection | Reported early efficacy/safety signals in GUCY2D-LCA; mean improvement 20.3 dB, and 3/6 treated patients reached the maximum MLMT score; trial eligibility requires biallelic GUCY2D variants and identifiable central photoreceptor structure on OCT (pqac-00000015, pqac-00000017, pqac-00000035, pqac-00000036) | MAXO: gene therapy; subretinal gene delivery |
| SAR439483 | Gene augmentation; AAV-based GUCY2D replacement therapy | NCT03920007 | Phase I/II | Originally described in development with Sanofi/Atsena-associated program reporting | Ongoing in published 2022 review; current registry entry active, not recruiting | Subretinal injection | Preclinical studies in knockout mice improved ERG responses; developed to restore guanylate cyclase 2D expression in GUCY2D-LCA, a condition considered favorable for gene therapy because of relative preservation of central photoreceptor structure (pqac-00000016, pqac-00000014, pqac-00000028) | MAXO: gene therapy; subretinal gene delivery |
| AAV5-hGRK1-GUCY2D (preclinical program underlying ATSN-101) | Preclinical gene augmentation | Not applicable | Preclinical | Atsena/Boye group preclinical development | Preclinical support completed | Subretinal injection | In GCDKO mice, high-dose treatment produced sustained statistically significant improvement in photopic and scotopic retinal function for at least 3 months; dose-ranging in cynomolgus monkeys and biodistribution/toxicology studies in rats and nonhuman primates supported clinical translation (pqac-00000014, pqac-00000025, pqac-00000027) | MAXO: gene therapy |
| AAV-GC1 / RetGC1 replacement in animal models | Preclinical gene augmentation | Not applicable | Preclinical | Academic preclinical studies | Preclinical | Ocular gene delivery (subretinal in mouse studies; lentiviral expression in avian model) | Long-term cone preservation and improved visual function reported in guanylate cyclase-1 knockout mouse models; avian childhood-blindness model showed restored vision after retinal guanylate cyclase-1 expression (pqac-00000026) | MAXO: gene therapy |
| CRISPR-based GUCY2D editing approaches | Experimental genome editing concept | None identified for active human GUCY2D retinopathy trial in retrieved evidence | Preclinical/conceptual | Academic/preclinical | Preclinical only | Viral delivery to retina discussed conceptually | Reviews cite successful editing/knockout of GUCY2D coding sequence in mouse and macaque photoreceptors as proof-of-platform for retinal genome editing, but no active disease-specific therapeutic clinical trial for GUCY2D retinopathy was retrieved here (pqac-00000018, pqac-00000016) | MAXO: genome editing therapy |
| Low-vision rehabilitation | Supportive care | Not applicable | Standard supportive care | Clinical care programs | In use | Noninvasive rehabilitation | Important current management because many patients have profound, often lifelong visual impairment even when retinal structure is partially preserved; supportive measures remain standard while gene therapy access is limited (pqac-00000031, pqac-00000029, pqac-00000002) | MAXO: low vision rehabilitation |
| Orientation and mobility training | Supportive/rehabilitative care | Not applicable | Standard supportive care | Vision rehabilitation services | In use | Behavioral/rehabilitative intervention | Used to improve independent functioning and safety in severe congenital or progressive visual impairment typical of GUCY2D-LCA and advanced CORD (pqac-00000031, pqac-00000029) | MAXO: orientation and mobility training |
| Genetic counseling | Supportive/preventive care | Not applicable | Standard of care | Genetics/ophthalmic genetics services | In use | Counseling | Essential for confirming autosomal recessive risk in LCA1, autosomal dominant risk in CORD6, family planning, cascade testing, and clinical-trial eligibility assessment (pqac-00000002, pqac-00000003, pqac-00000022, pqac-00000031) | MAXO: genetic counseling |


*Table: This table summarizes the current therapeutic landscape for GUCY2D-related retinopathy, spanning active clinical gene therapy, preclinical programs, experimental genome editing concepts, and standard supportive care. It is useful for quickly comparing trial status, delivery route, reported outcomes, and knowledge-base-ready intervention terms.*