Pilot Phase I/II Study of the Evaluation of Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)
试验速览
- 阶段
- 1 期
- 状态
- 终止
- 入组人数
- 4
- 试验地点
- 1
- 主要终点
- Number and Severity of IP-related AEs
研究概览
简要总结
Background:
- People with rod-cone dystrophy (RCD) or enhanced S-cone syndrome (ESCS) have excess fluid under the retina of their eye. This can cause vision loss. The medicine interferon gamma-1b may help people with these diseases.
Objectives:
- To see if interferon gamma-1b eyedrops are safe for people with RCD or ESCS. To see if the medicine can decrease retina fluid and help prevent vision loss.
Eligibility:
- People at least 12 years old with RCD or ESCS. Those with ESCS must have two mutations in the NR2E3 gene.
Design:
- Participants will be screened with medical history, physical exam, eye exam, and blood tests.
- Participants will stay at NIH for 3 days and get the first eyedrops.
- Participants will give themselves 4 study eyedrops 4 times daily for 2 weeks and keep a diary.
- Participants will have 5 outpatient visits over 8 weeks, 2 of which are telephone assessments. They may have:
- Repeats of screening tests.
- Questionnaires.
- Small piece of skin removed.
- Eye exams, including eye dilation and tasks on computer screens.
- Fluorescein angiography. A dye injected into an arm vein will travel to the blood vessels in the eyes. A camera will take pictures.
- Electroretinography. Participants will sit in the dark wearing eyepatches. A small electrode will be taped to the forehead. After 30 minutes, researchers will remove the eyepatches and put in numbing eyedrops and contact lenses. Participants will watch flashing lights.
- Electrooculography. Electrodes will be attached outside of the eyes and eye function will be measured in the dark and the light.
- Participants will have a follow-up visit after 52 weeks.
详细描述
Objective:
Rod-cone dystrophy (RCD) is a term applied to a number of genetically heterogenous diseases presenting with night vision abnormalities, visual field defects and reduced rod electroretinography responses. Enhanced S-Cone syndrome (ESCS) is a rare autosomal recessive retinal disease with a developmental and a degenerative aspect. Macular cystic changes, often florid and usually resulting in a reduction of central acuity, are frequently associated with both diseases. The reason for this association is not well understood. Acetazolamide (Diamox) and Dorzolamide (Trusopt) have been reported to have variable success in reducing these cystic changes but the effect is frequently inadequate. The objective of this study is to evaluate the safety and potential efficacy of Interferon (IFN) gamma-1b administered topically for macular edema/retinal schisis cysts in RCD and ESCS. Possible disease-related pathophysiologic mechanisms will be explored using induced pluripotent stem cell (iPSC) protocols leading to iPSC-derived retinal pigment epithelium (RPE) and photoreceptor generation.
Study Population:
Up to five participants with RCD with significant macular cystic changes and up to five participants with ESCS with significant macular cystic changes will be enrolled to receive IFN gamma-1b administered topically in one eye. However, up to an additional two participants may be enrolled in order to obtain the five participants in each disease group to be included in the primary analysis if any participants withdraw from the study prior to receiving five days of treatment.
Design:
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 12 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
研究组 & 干预措施
Interferon Gamma-1b
Topical interferon (IFN) gamma-1b, 112 µg dose, administered in study eye daily for two weeks
干预措施: Interferon gamma-1b (Drug)
结局指标
主要结局
Number and Severity of IP-related AEs
时间窗: Study duration, up to 52 weeks
The number and severity of adverse events related to the investigation product (IP).
Number of Participants Who Withdrew
时间窗: Study duration, up to 52 weeks
The number of participants who withdrew early.
次要结局
- Change in Best Corrected Visual Acuity (BCVA) From Baseline as Compared to Day 2(Day 2)
- Change in Central Retinal Thickness as Measured on Cirrus OCT From Baseline as Compared to Day 3(Day 3)
- Change in Central Retinal Thickness as Measured on Cirrus OCT From Baseline as Compared to Week 2(Week 2)
- Change in Best Corrected Visual Acuity (BCVA) From Baseline as Compared to Day 1(Day 1)
- Change in Best Corrected Visual Acuity (BCVA) From Baseline as Compared to Day 3(Day 3)
- Change in Best Corrected Visual Acuity (BCVA) From Baseline as Compared to Week 2(Week 2)
- Change in Best Corrected Visual Acuity (BCVA) From Baseline as Compared to Week 5(Week 5)
- Change in Best Corrected Visual Acuity (BCVA) From Baseline as Compared to Week 8(Week 8)
- Change in Best Corrected Visual Acuity (BCVA) From Baseline as Compared to Week 52(Week 52)
- Change in Maximum Subretinal Fluid Volume From Baseline as Compared to Day 1(Day 1)
- Change in Maximum Subretinal Fluid Volume From Baseline as Compared to Day 3(Day 3)
- Change in Maximum Subretinal Fluid Volume From Baseline as Compared to Week 2(Week 2)
- Change in Maximum Subretinal Fluid Volume From Baseline as Compared to Week 8(Week 8)
- Change in Maximum Subretinal Fluid Volume From Baseline as Compared to Day 2(Day 2)
- Change in Maximum Subretinal Fluid Volume From Baseline as Compared to Week 52(Week 52)
- Change in Central Retinal Thickness as Measured on Cirrus OCT From Baseline as Compared to Day 1(Day 1)
- Change in Central Retinal Thickness as Measured on Cirrus OCT From Baseline as Compared to Week 5(Week 5)
- Change in Central Retinal Thickness as Measured on Cirrus OCT From Baseline as Compared to Week 8(Week 8)
- Change in Central Retinal Thickness as Measured on Cirrus OCT From Baseline as Compared to Week 52(Week 52)
- Change in Central Retinal Thickness as Measured on Spectralis OCT From Baseline as Compared to Day 2(Day 2)
- Change in Maximum Subretinal Fluid Volume From Baseline as Compared to Week 5(Week 5)
- Change in Central Retinal Thickness as Measured on Cirrus OCT From Baseline as Compared to Day 2(Day 2)
- Change in Central Retinal Thickness as Measured on Spectralis OCT From Baseline as Compared to Day 1(Day 1)
- Change in Central Retinal Thickness as Measured on Spectralis OCT From Baseline as Compared to Week 2(Week 2)
- Change in Central Retinal Thickness as Measured on Spectralis OCT From Baseline as Compared to Week 5(Week 5)
- Change in Central Retinal Thickness as Measured on Spectralis OCT From Baseline as Compared to Week 8(Week 8)
- Change in Central Retinal Thickness as Measured on Spectralis OCT From Baseline as Compared to Week 52(Week 52)
- Change in Central Visual Field Sensitivity at Day 2 and Week 5 Compared to Baseline.(Day 2 and Week 5)
- Change in Central Retinal Thickness as Measured on Spectralis OCT From Baseline as Compared to Day 3(Day 3)