NCT05957276已完成不适用
NOPRODRPG0002: NOPRODRPG0002 - IRD_RPGR Patient Registry
适应症
干预措施
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 886
- 试验地点
- 118
- 主要终点
- Visual Acuity (VA)
研究概览
简要总结
The purpose of this study is to better understand the natural history of Inherited Retinal Disease (IRD) and help inform patient management.
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
- 3 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •For Participant Selection:
- •Participant has any clinically documented sign(s) and/or symptom(s) consistent with an Inherited Retinal Disease (IRD), or asymptomatic with documented retinal changes detected by imaging or electrophysiology
- •Participant has documented genetic variant(s) (known pathogenic, likely pathogenic, or variants of uncertain significance) in relevant genes for any of the following IRDs: X-Linked Retinitis Pigmentosa (XLRP) and/or Achromatopsia (ACHM)
- •Participant or legally acceptable representative has provided informed consent (and participant assent, when applicable) in accordance with local requirements
- •Participant is able to have relevant visual and/or retinal assessments performed
- •For Caregiver Selection:
- •Caregiver has consent from the associated participant to participate in the study, or participant assent and consent from their legally acceptable representative
- •Male or female aged greater than or equal to (>=)18 years
- •Identified by an enrolled participant (or their legally acceptable representative*) as a primary caregiver
- •Caregiver has provided informed consent in accordance with local requirements
排除标准
- •For Participant Selection:
- •- Participant has received a treatment in an IRD-related interventional trial, or is being screened for an IRD-related interventional trial
- •For Caregiver Selection:
- •- Caregiver has an IRD diagnosis and presents with symptoms (visual impairment)
研究组 & 干预措施
Participants With Inherited Retinal Diseases (IRDs)
Adult and pediatric (greater than or equal to [>=] 3 years) participants with a documented genetic diagnosis of X-linked retinitis pigmentosa (XLRP) or Achromatopsia (ACHM) and any signs or symptoms of IRD or documented retinal changes detected by imaging or electrophysiology.
干预措施: Standard of Care (Other)
结局指标
主要结局
Visual Acuity (VA)
时间窗: Baseline up to 8 years
VA is a measure of the sharpness of vision. The test uses a chart with letters or symbols of different sizes, at a specific distance, and is reported using various scales, such as fraction, decimal, minimum angle of resolution (MAR), logMAR. When a participant is unable to read a chart, visual acuity can be measured by counting fingers, hand motion, or light perception.
Visual Field (VF)
时间窗: Baseline up to 8 years
VF is used to determine scope of vision, including central and peripheral vision. It can determine place, size, and shape of scotoma in vision.
次要结局
- Association Between IRD Genotype and Visual Field(Baseline up to 8 years)
- Hospital Anxiety and Depression Scale (HADS)(Baseline up to 8 years)
- Association Between IRD Genotype and Change in Visual Acuity(Baseline up to 8 years)
- Association Between IRD Genotype and Change in Visual Field(Baseline up to 8 years)
- IRD Variants and Subtypes(Baseline up to 8 years)
- Number of Participants With Various Signs and Symptoms(Baseline)
- Clinical Global Impression of Change (CGIC)(First post-baseline visit up to 8 years)
- Association Between Inherited Retinal Disease (IRD) Genotype and Visual Acuity(Baseline up to 8 years)
- Family History and Inheritance Pattern(Baseline up to 8 years)
- Demographic Characteristics of Participants: Age(Baseline)
- Demographic Characteristics of Participants: Sex(Baseline)
- Demographic Characteristics of Participants: Race(Baseline)
- Number of Participants With Comorbidities(Baseline)
- Number of Participants With Other Ocular Events(Baseline up to 8 years)
- Number and Type of Hospital/Clinic Visit After IRD Diagnosis(Baseline up to 8 years)
- Clinician Global Impression of Severity (CGIS)(Baseline up to 8 years)
- Number and Type of Healthcare Professional Visits Prior to Confirmed IRD Diagnosis(Baseline up to 8 years)
- Medical Resource Utilization(Baseline up to 8 years)
- Participant Global Impression of Severity (PGIS)(Baseline up to 8 years)
- Participant Global Impression of Change (PGIC)(First post-baseline visit up to 8 years)
- Modified Low Luminance Questionnaire (mLLQ)(Baseline up to 8 years)
- Achromatopsia (ACHM) Vision Impact Questionnaire (AVIQ)(Baseline up to 8 years)
- Achromatopsia (ACHM) Symptom and Impact Diary(Baseline up to 8 years)
- Caregiver Burden Score(Baseline up to 8 years)
- Work Productivity and Activity Impairment (WPAI)(Baseline up to 8 years)
研究者
研究点 (118)
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