| NCT Number | Trial Name/Acronym | Phase | Sponsor | Status | Intervention | Enrollment | Key Details |
|---|---|---|---|---|---|---:|---|
| NCT07185256 | Safety and Tolerability of Subretinally Injected OPGx-BEST1 in Patients With BVMD or ARB / **BIRD-1** | Phase 1b/2a | Opus Genetics, Inc | Recruiting | One-time subretinal injection of **OPGx-BEST1** (codon-optimized full-length **hBEST1** under an RPE-specific/VMD2 promoter); dose exploration at **1.5E9 vg/eye** and **4.5E9 vg/eye** | 10 | First interventional gene-therapy trial identified here for BEST1 bestrophinopathies; open-label basket study in adults with **autosomal-dominant BVMD** or **ARB**; vitrectomy plus subretinal delivery; 5-year follow-up; primary focus on dose-limiting toxicity, procedure/drug-related adverse events; secondary outcomes include OCT, FAF, OCT-A, microperimetry, ETDRS BCVA, low-luminance VA, and PROs. (pqac-00000042, pqac-00000043) |
| NCT05809635 | Study of BEST1 Vitelliform Macular Dystrophy | Not applicable (Observational natural history study) | Columbia University | Recruiting | Natural history longitudinal assessment; no therapeutic intervention | 52 | Prospective cohort study to define the natural history of **BEST1-associated vitelliform macular dystrophy** and identify structural/functional endpoints for future trials; includes ERG, EOG, OCT, FAF, NIR-AF, qAF, BCVA, MAIA microperimetry, Goldman visual fields, and dark-adapted chromatic perimetry; includes children and adults; multicenter sites in the US, France, and Germany. (pqac-00000041) |
| NCT02162953 | Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases | Not applicable (Observational) | Mayo Clinic | Completed | Collection of participant samples to generate stem-cell disease models (iPSC-based modeling) | 48 | Completed observational study designed to develop stem-cell models of Best disease and related retinal degeneration for mechanistic and translational research; useful for mutation-specific modeling rather than direct treatment efficacy testing. (pqac-00000000) |


*Table: This table summarizes the main clinical studies currently identified for BEST1-related retinopathy, including the ongoing OPGx-BEST1 interventional gene therapy trial and key observational natural history/modeling studies. It is useful for quickly comparing trial purpose, status, intervention type, and outcome focus.*