Prescreening Study to Identify Potential Participants With ABCA4-related Retinopathy for ACDN-01 Clinical Trials
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 50
- 试验地点
- 8
- 主要终点
- Confirm mutations in the ABCA4 gene
研究概览
简要总结
This is an observational prescreening study. Individuals who are eligible for prescreening will undergo testing procedures that may be used to determine eligibility in ACDN-01 clinical trials.
详细描述
The prescreening process will be used to help determine the initial eligibility and interest of potential participants in ACDN-01 clinical trials by conducting assessments of key eligibility criteria before the clinical trial screening procedures are performed.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 5 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Presence of mutations in the ABCA4 gene
- •ABCA4 retinopathy phenotype (Stargardt disease type 1 or cone-rod dystrophy)
排除标准
- •The presence of pathogenic or likely pathogenic mutations in other genes known to cause cone-rod dystrophy or Stargardt maculopathy
- •Retinal disease other than ABCA4-related retinopathy
- •Presence of a medical condition (systemic or ophthalmic), psychiatric condition, including substance abuse disorder, or physical examination or laboratory finding that may in the opinion of the principal investigator and sponsor preclude adherence to the scheduled study visits, safe participation in the study, or affect the results of the study.
研究组 & 干预措施
Prescreening Group
The prescreening study consists of genetic and visual assessments and will require at least 1 onsite visit. All clinical assessments performed are for the purpose of determining research eligibility for ACDN-01 clinical trials.
干预措施: Prescreening Assessments (Diagnostic Test)
结局指标
主要结局
Confirm mutations in the ABCA4 gene
时间窗: 12 months
Using a Clinical Laboratory Improved Amendments (CLIA)-certified laboratory.
Measure BCVA and LLVA
时间窗: 12 months
Measure best corrected visual acuity and low luminance visual acuity
Measure the area of retinal atrophy
时间窗: 12 months
Using FAF imaging
Measure baseline retinal structure
时间窗: 12 months
Using OCT (SD-OCT)
Historical FAF or OCT images
时间窗: 4 years
Confirm historical timepoint images
Confirm the absence of pathogenic mutations in genes known to cause retinal disease other than ABCA4-related retinopathy
时间窗: 12 months
Using a Clinical Laboratory Improved Amendments (CLIA)-certified laboratory.
Historical BCVA/LLVA measurements
时间窗: 4 years
Collect past measurements
次要结局
未报告次要终点