Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 60
- 试验地点
- 9
- 主要终点
- visual field
研究概览
简要总结
Rationale:
In preparation for treatment with gene therapy, this study is being conducted in order to investigate the natural history of Inherited Retinal Dystrophies (IRDs) due to mutations in RPE65 gene. Such a study will help identify suitable patients for therapeutic intervention.
Methodology:
This is a multicenter retrospective, descriptive chart review study designed to assess retinal structure and function in subjects with IRDs due to mutation in RPE65 gene by visual acuity, visual field measurements, Optical Coherence Tomography (OCT), and a number of other vision-related assessments.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 3 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Must be willing to adhere to protocol as evidenced by written informed consent or parental permission and subject assent.
- •Subjects diagnosed with Retinitis Pigmentosa or Leber Congenital Amaurosis.
- •Molecular diagnosis showing mutations (homozygotes or compound heterozygotes) in RPE65 gene.
- •Age three years old or older.
- •Minimum of two office / clinic visits encounters with ophthalmic assessment that span a follow-up period of at least 1 year with the last visit occurring within the last six months (before signature of informed consent and of study start).
排除标准
- •Unable or unwilling to meet requirements of the study.
- •Participation in a clinical study with an investigational drug during the retrospective study time period (i.e., from 01/01/1990 to study start date).
结局指标
主要结局
visual field
时间窗: at least one year
average annual progression rate of visual field over the retrospective follow-up period
best correct visual acuity
时间窗: at least one year
average annual progression rate of best correct visual acuity over the retrospective follow-up period
optical coherence tomography
时间窗: at least one year
average annual progression rate of central retinal thickness over the retrospective follow-up period
次要结局
- Multifocal Electroretinogram(at least one year)
- fundus autofluorescence(at least one year)
- microperimetry(at least one year)
- Full-field Electroretinogram(at least one year)
研究者
Francesca Simonelli
Prof
University of Campania "Luigi Vanvitelli"