RecruitingPhase 1NCT07797985
Ophthalmological
Best Disease
Also known as Bestrophinopathy, Best vitelliform macular dystrophy, BEST1 maculopathy
Best Disease is a macular dystrophy caused by mutations in the BEST1 gene encoding bestrophin-1, a calcium-activated chloride channel expressed in the retinal pigment epithelium that regulates fluid and ion transport across the RPE-photorec
ORPHA:1227 ↗Gene BEST1Prevalence 1 per 10,000Onset Childhood to early adulthoodAutosomal dominant (most cases); autosomal recessive (AVMD)
79
studies recruiting now
as of 7 Sept 2026
660
studies registered in total
as of 7 Sept 2026
22
countries with a recruiting site
as of 7 Sept 2026
1 Sept 2026
most recent study posted
among recruiting studies
Recruiting trials
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Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 79 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Best Disease
Best Disease is a macular dystrophy caused by mutations in the BEST1 gene encoding bestrophin-1, a calcium-activated chloride channel expressed in the retinal pigment epithelium that regulates fluid and ion transport across the RPE-photoreceptor interface. The disease is characterised by the accumulation of lipofuscin-like material beneath the fovea, classically producing a yellowish egg-yolk lesion that progresses through defined stages including vitelliruptive, scrambled egg, and atrophic phases, with central vision declining as atrophy advances. Diagnosis is supported by a markedly reduced or absent Arden ratio on electro-oculography (EOG), which reflects RPE dysfunction even in asymptomatic carriers.
Common clinical features
Central vision loss (variable severity and rate of progression)Distortion of central vision (metamorphopsia)Yellowish sub-foveal vitelliform lesion on fundus examinationReduced Arden ratio on electro-oculographyPhotoreceptor loss overlying areas of RPE atrophySubfoveal fluid detectable on OCTRelative central scotoma on visual field testingRisk of choroidal neovascularisation (CNV) causing acute vision loss
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Best Disease. Not eligibility rules; those are set by each study.
- Genetic confirmation of a BEST1 pathogenic variant is important, as EOG abnormalities alone are not sufficient for some trial eligibility criteria.
- The stage of the vitelliform lesion (vitelliruptive vs. atrophic) significantly affects eligibility; trials targeting earlier stages may exclude patients with established geographic atrophy.
- Report any sudden vision change promptly before screening, as choroidal neovascularisation may require treatment that could affect trial participation.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).