NCT05674058进行中（未招募）不适用
Function and Imaging Assessments for G1961E-associated Stargardt Disease: Outcome Measure Ranking as Basis for Interventional Trials
University Hospital, Basel, Switzerland1 个研究点 分布在 1 个国家目标入组 20 人开始时间: 2022年11月1日最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 20
- 试验地点
- 1
- 主要终点
- Progression of photoreceptor outer and inner segment loss
研究概览
简要总结
Some phenotypes of Stargardt disease are rather distinct. This includes the 'bull's eye maculopathy' phenotype associated with the frequent ABCA4 G1961E variant. In anticipation of a treatment trial, this natural history study aims to compare functional and structural outcome measures systematically.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Adult patients with G1961E-associated Stargardt disease
- •Defined by (1.) the presence of two pathogenic ABCA4 variants with at least one ABCA4G1961E variant, (2.) a Stargardt disease phenotype, and (3.) the absence of pathogenic variants in PRPH2, PROM1, and ELOVL4
排除标准
- •Inability to give informed consent
- •Prior surgery (other than anti-VEGF injections, cataract surgery, YAG laser capsulotomy, or laser retinopexy) that - according to the investigator's judgment - may affect visual function assessments (e.g., retinal detachment surgery, glaucoma filtration surgery, or a history of a corneal transplant in the study-eye)
- •Concurrent ophthalmic conditions in the study eye that (according to the investigator's judgment) may contribute to loss of vision such as clinically significant opacification of the ocular media (corneal dystrophies, cataract), other retinal diseases, or disease of the optic nerve head and visual pathway (including amblyopia)
- •Major surgery planned or other events that (according to the investigator's judgment) could hinder follow-up examinations (e.g., knee replacement)
结局指标
主要结局
Progression of photoreceptor outer and inner segment loss
时间窗: Two years from Baseline
Rate of change for the (square-root transformed) EZ loss area (in mm/yr)
次要结局
未报告次要终点
研究者
研究点 (1)
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