Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 44
- 试验地点
- 11
- 主要终点
- Visual Function
研究概览
简要总结
This study is a multi-country retrospective and cross-sectional observational study of affected LHON subjects, based on retrospective subjects' medical chart abstractions and cross-sectional administration of patient-reported outcomes (PROs).
详细描述
The purpose of this study is to understand the evolution of visual functional and structural changes and other associated symptoms in patients with LHON. The relation between genetic, lifestyle and/or environmental factors and the LHON disease will be described, and a better understanding of the natural history of LHON disease and the healthcare associated to with the disease will be sought.
In addition, we would also like to understand the economic burden for patients and their families with LHON resulting from direct and indirect costs they may have because of their disease.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Subjects who have a confirmed and genotyped diagnosis of LHON;
- •Subjects with visual function outcomes data including at least 2 visual function assessments between 1 year and 3 years (+/- 4 weeks) after vision loss;
- •Subjects who are willing and able to provide written informed consent if required as per local regulations;
- •For LHON subjects under the age of 18 years, permission from a legal guardian to participate in the study;
排除标准
- •Subjects who received any investigational drug, or participated in any LHON-related interventional clinical trial during the observational period;
- •Subjects without medical charts data available.
研究组 & 干预措施
Single-group study
This study is a multi-country retrospective and cross-sectional observational study of affected LHON subjects, based on retrospective subjects' medical chart abstractions and cross-sectional administration of patient-reported outcomes (PROs).
干预措施: Patient-reported outcomes (PROs) (Other)
结局指标
主要结局
Visual Function
时间窗: All assessments available before enrollment
Visual function will include visual examination data from medical records.
The National Eye Institute Visual Function Questionnaire (VFQ)-25
时间窗: Enrollment
The National Eye Institute Visual Function Questionnaire (NEI-VFQ or VFQ)-25 is a valid and reliable 25-item version of the 51-item VFQ.
The 36-Item Short Form Health Survey (SF-36)
时间窗: Enrollment
The SF-36 surveys health status and quality of life
Child Health Questionnaire (CHQ)
时间窗: Enrollment
The CHQ uses the same structure and methodological approach as the SF-36 and is designed and normed for children from 5-to-18 years of age.
EuroQol-5 Dimension (EQ-5D)-5L
时间窗: Enrollment
The EuroQol-5 Dimension-5 Level (EQ-5D-5L) is a generic HRQoL instrument that is widely used as a PRO measure.
次要结局
- Economic burden of disease(Enrollment)