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

Argo Sante12 enrolled

Overview

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.

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

Study Type

OBSERVATIONAL

Enrollment

Conditions

Eligibility

Sex: ALLMin age: 20 YearsMax age: 60 Years

Medical Language ↔ Plain English

Inclusion Criteria: * 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 Exclusion Criteria: * 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

Outcomes

Primary Outcomes

Describe the disease impact on quality of life through qualitative data of loss of independence of patients suffering from LHON and living in France

Descriptive analysis of answers given to ad-hoc questionnaire and qualitative analysis of interviews

Time frame: Once at enrollment

Secondary Outcomes

Measure the general quality of life

The 5-level EQ-5D version (EQ-5D-5L) comprises five dimensions: mobility, self-care, usual activities, pain/discomfort and anxiety/depression. Each dimension has 5 levels: no problems, slight problems, moderate problems, severe problems and extreme problems. It gives a score where 1 represents the better life that ones can imagine, and 0 stands for death. The EQ VAS records the patient's self-rated health on a vertical visual analogue scale, where the endpoints are labelled 'The best health you can imagine' and 'The worst health you can imagine'. The VAS can be used as a quantitative measure of health outcome that reflect the patient's own judgement.

Time frame: Once at enrollment

Measure the vision-related quality of life

NEIVFQ-25 (National Eye Institute Visual Functioning Questionnaire - 25): a base set of 25 vision-targeted questions representing 11 vision-related constructs, plus an additional single-item general health rating question. It generates the vision-related sub-scales: global vision activities, difficulty with near vision activities, difficulty with distance vision activities, limitations in social functioning due to vision, role limitations due to vision, dependency on others due to vision, mental health symptoms due to vision, driving difficulties, limitations with peripheral and color vision, and ocular pain.