Natural History Study in Retinitis Pigmentosa Caused by Mutations in the BEST1 Gene
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 52
- 试验地点
- 3
- 主要终点
- Medmont Dark Adapted Chromatic (DAC) Automated Perimeter
研究概览
简要总结
The purpose of this study is to establish the natural history of of participants with BESTROPHIN 1 Vitelliform Macular Dystrophy.
The blinding disorder Best Vitelliform Macular Dystrophy (VMD) is caused by any one of more than 250 different mutations in the BEST1 gene.
As new treatments are developed, a clear understanding of the natural history of disease progression of BEST1 VMD is necessary. The goals of this natural history study are to:
- Report the natural history of retinal degeneration in participants with a clinical diagnosis of VMD with molecular confirmation of a pathogenic BEST1 mutation(s).
- Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials for the treatment of BESTROPHIN 1 VMD.
- Compare progression of the identified structural and functional measures between the two eyes to judge the suitability of the second untreated eye as a control for a future clinical trial involving unilateral treatment
- Identify well-defined patient populations for future clinical trials of investigative treatments for BEST1 VMD.
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
- •Ability to provide informed consent
- •Diagnosis of BEST1-associated VMD by study physician, who are trained retinal specialists in the university clinic Must be able to commit to 4 follow-up study visits (3 years)
排除标准
- •Systemic condition that prevents the participant from undergoing the exams
结局指标
主要结局
Medmont Dark Adapted Chromatic (DAC) Automated Perimeter
时间窗: Up to 3 years
Electroocoulogram (EOG)
时间窗: Up to 3 years
EOG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol
Optical Coherence Tomography (OCT)
时间窗: Up to 3 years
Full-field electroretinogram (ERG)
时间窗: Up to 3 years
ERG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol.
Fundus Autofluorescence (FAF)
时间窗: Up to 3 years
Quantitative Fundus Autofluorescence (qAF)
时间窗: Up to 3 years
Near-infrared fundus autofluorescence (NIR-AF)
时间窗: Up to 3 years
次要结局
- Full-field Stimulus Testing(Up to 3 years)
- Light-adapted Static Perimetry(Up to 3 years)
- Best-corrected Visual Acuity (BCVA)(Up to 3 years)
- Goldman Kinetic Visual Field(Up to 3 years)
- Dark-adapted Chromatic Perimetry(Up to 3 years)
- Color Fundus Photos(Up to 3 years)
- Macular Integrity Assessment (MAIA) Microperimetry(Up to 3 years)
研究者
Stephen H. Tsang
Laszlo Z. Bito Professor of Ophthalmology and Professor of Pathology and Cell Biology
Columbia University