Clinical Characterisation of OPA1-Associated Autosomal-Dominant Optic Atrophy
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- Change in 2.5% low-contrast visual acuity measured with Sloan letter charts
研究概览
简要总结
This prospective, monocenter, non-interventional observational study investigates the natural history as well as the clinical and genetic spectrum of OPA1-associated autosomal dominant optic atrophy. Participants will undergo standardized ophthalmic and functional assessments, including visual acuity testing, visual field testing, color vision and contrast sensitivity testing, optical coherence tomography, retinal flavoprotein fluorescence imaging, and video-oculography-based ocular motor and pupillary measurements. The study aims to characterize disease severity and progression over time and to identify structural, metabolic, and functional biomarkers that may serve as clinical endpoints for future therapeutic studies.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age 6 years or older
- •Clinical diagnosis or clinical features consistent with optic atrophy
- •Molecular genetic confirmation of a pathogenic or likely pathogenic variant in the OPA1 gene
- •Ability of the participant, or the participant's parent or legal guardian, to understand the nature of the study and provide written informed consent
- •(Participants are eligible for inclusion if all of the criteria mentioned above are met)
排除标准
- •- Severe systemic disease or medical condition that, in the opinion of the investigator, would preclude participation in the study-related examinations
结局指标
主要结局
Change in 2.5% low-contrast visual acuity measured with Sloan letter charts
时间窗: Baseline and follow-up visits up to 3 years
Change from baseline in low-contrast visual acuity measured using 2.5% low-contrast Sloan letter charts. Low-contrast visual acuity will be recorded as the number of Sloan letters correctly read and may be converted to logMAR for analysis. The unit of measure is number of Sloan letters correctly read.
Change in contrast sensitivity
时间窗: Baseline and follow-up visits up to 3 years
Change from baseline in contrast sensitivity measured using the Manifold® Platform from Adaptive Sensory Technology. The unit of measure is log contrast sensitivity.
Change in macular ganglion cell layer thickness measured by optical coherence tomography
时间窗: Baseline and follow-up visits up to 3 years
Change from baseline in macular ganglion cell layer thickness, or ganglion cell-inner plexiform layer thickness where applicable, measured by optical coherence tomography. The unit of measure is micrometers.
Change in peripapillary retinal nerve fiber layer thickness measured by optical coherence tomography
时间窗: Baseline and follow-up visits up to 3 years
Change from baseline in peripapillary retinal nerve fiber layer thickness measured by optical coherence tomography. The unit of measure is micrometers.
次要结局
- Change in retinal flavoprotein fluorescence intensity measured by flavoprotein fluorescence imaging(Baseline and follow-up visits up to 3 years)
- Change in central visual field sensitivity measured by Humphrey 10-2 automated perimetry(Baseline and follow-up visits up to 3 years)
- Change in protan and tritan colour contrast thresholds measured by the Arden Colour Contrast Test(Baseline and follow-up visits up to 3 years)
- Change in best-corrected visual acuity (BCVA) measured with high-contrast visual acuity testing(Baseline and follow-up visits up to 3 years)
研究者
Maximilian-Joachim Gerhardt
Dr. med.
LMU Klinikum