Evaluation of Impact of Disease and Visual Disability on Quality of Life and Loss of Independence of Patients Living in France With Leber's Hereditary Optic Neuropathy (LHON) Through Qualitative and Quantitative Data Collection
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 12
- 试验地点
- 1
- 主要终点
- Describe the disease impact on quality of life through qualitative data of loss of independence of patients suffering from LHON and living in France
研究概览
简要总结
Leber's hereditary optic neuropathy (LHON) is a rare mitochondrial genetic disorder characterized by optic nerve atrophy due to the degeneration of retinal ganglion cells, which leads to acute visual loss.
Males are more likely to develop optic neuropathy than women. They experience blurring or clouding of vision in one eye. The fellow eye develops similar symptoms sequentially with a delay of weeks.
This sudden vision loss has devastating consequences on the life course of young men, with the impact of LHON on their quality of life and loss of independence.
Yet, data describing the impacts of LHON on the life-course of patients is lacking, with very little data available in the literature.
This study aims to understand the life of patients living with LHON disease through the analysis of the impact of LHON on the quality of life and loss of independence of patients living in France and to accurately describe the consequences of the disease on their social, familial and professional life.
详细描述
The protocol presents a retrospective study. Patients living in France with LOHN shall be informed about it and offered to enroll through patients' associations or experts involved. As part of the consent process, participants should be informed of the nature of the study and the objectives and that the replies would remain confidential and anonymous.
After a brief screening, the study divides into two parts: one aiming at collecting quantitative data through 3 standard quality of life questionnaires, and one survey specially written for this study (sample of 25 patients, duration 2 hours). The second is a qualitative interview to deep dive into their personal, social, familial, and professional life (10 patients, duration is 50 minutes). The study contains the detailed sections:
- Screening
- A survey specially designed for the study
- Quality of life through EQ-5D-5L
- Quality of life through NEI VFQ- 25, specific for patients suffering from glaucoma
- Quality of life through ARAMAV questionnaire specific for visually impaired people
- An in-depth qualitative interview, specially designed to fit the requirements of the study
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
- 20 Years 至 60 Years（Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •20 to 59 years old
- •Living in France and fluent in French
- •Diagnosed with Leber's hereditary optic neuropathy (LHON) for more than twelve months and less than five years
- •Suffering from the mutation ND4 (m.11778G>A)
- •Willing to participate in the study
排除标准
- •Not willing to participate in the study
- •Patients treated/cured with gene therapy rAAV2/2-ND4 (GS010, Lumevoq®)
- •Patients diagnosed there are more than five years or less than twelve months
- •Patients suffering from disabilities not related to LHON
- •Person or person having a member of their family working in ophthalmology-related industries or profession, in clinical research or associations of patients, or involved in health governmental agencies
- •Person having difficulties reading or speaking French, unable to answer the questions
结局指标
主要结局
Describe the disease impact on quality of life through qualitative data of loss of independence of patients suffering from LHON and living in France
时间窗: Once at enrollment
Descriptive analysis of answers given to ad-hoc questionnaire and qualitative analysis of interviews
次要结局
- Measure the general quality of life(Once at enrollment)
- Assess the patient's needs in care and social-economic support(once at enrollment)
- Measure the cost of visual loss in terms of economic impact(once at enrollment)
- Measure the vision-related quality of life(once at enrollment)
- Measure the independence and independence-related quality of life(once at enrollment)
- Explore the relation between health status and employment conditions, education, and economic situation(once at enrollment)