Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 30
- 试验地点
- 3
- 主要终点
- Number of participants with common patterns of retinal degeneration observed
研究概览
简要总结
The goal of this observational study is to define the course of the retinal degeneration in a ZSD patient cohort.
The objective of this study is to gather information so the investigators can:
- define the course of the retinal degeneration in a ZSD patient cohort with retinal degeneration
- define what tests best monitor the progression of the retinal degeneration
- generate prognostic information about vision loss in ZSD.
At each yearly visit, the participants will answer a functional vision questionnaire, have a physical evaluation, blood test, and participate in a variety of vision tests. The investigators will also collect pertinent medical history.
Participants will travel to study site. The study will provide financial support for board and travel.
详细描述
Participants/guardians will have a 1-hour virtual interview before the first visit to review the tests and determine which tests the participant is able to perform.
Below is a list of the vision tests used for this study:
Prior to each visit, the participant will complete the PedEyeQ or VFQ-25 questionnaire about functional vision.
At each clinic visit :
- Refraction and glasses test: this is a general vision test, as commonly conducted by an optometrist, before and after pupil dilation
- Best corrected visual acuity: the participant's vision will be tested using cards or a chart.
- Contrast sensitivity: the participant's ability to detect contrast will be tested using a chart.
- Visual field: the participant's field of vision will be tested by asking them to indicate when they see a stimulus.
- Reading test: the participant's ability to see written text will be tested using the International Reading Speed Test
- Color vision test: the participant's ability to see color will be tested using cards
- Eye exam: the participant's eyes will be examined with a lamp
- Pupil dilation: to allow the completion of some tests, the participant's pupils will be dilated using medicated eye drops
- Microperimetry: the participant's macula (central retina) will be visualized.
- Fundus photography: the participant's fundus (central retina) will be photographed in light and dark conditions
- Full field stimulus threshold test: the participant's ability to perceive light in different parts of their visual field will be tested
- Optical coherence tomography (OCT): detailed images of the participant's retina will be taken
- Fundus autofluorescence: the participant's retinal health will be assessed by imaging the natural fluorescent properties of their retinal pigment epithelium
- Chromatic pupillometry: the function of different cells in the participant's retina will be determined by measuring their response to light
- Multi-luminance mobility test (MLMT): the participant will walk through an obstacle course at varying light levels to test their functional vision in different light conditions.
- Blood collection: a blood sample will be collected and banked to measure peroxisome functions.
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
- •confirmed ZSD with deleterious variants in PEX genes identified
- •confirmed or expected retinal involvement
排除标准
- •unable to perform a minimum of one vision test
- •severe ZSD disease
结局指标
主要结局
Number of participants with common patterns of retinal degeneration observed
时间窗: 5 years
Vision test results from participants will be reviewed together to describe common patterns of retinal degeneration observed.
Number of participants with disease progression
时间窗: 5 years
Using various tests of vision measured annually, a description of disease progression will be defined in each participant.
次要结局
- Rate of progression of retinal degeneration(5 years)
- Correlation of rate retinal degeneration to age and overall ZSD disease severity(5 years)
- rate of progression of retinal degeneration(5 years)
研究者
Nancy Braverman
Professor
McGill University Health Centre/Research Institute of the McGill University Health Centre