An observational study in Leber's Hereditary Optic Neuropathy (LHON), sponsored by Argo Sante. Completed at 1 site in France. Open to participants aged 20 Years to 60 Years. Per ClinicalTrials.gov, last updated 2024-02-06.
Sponsored by Argo Sante · Observational
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:
1,003 studies on the registry are indexed under Peripheral Nervous System Diseases; 177 are open to participants now.
This study's enrollment of 12 is below the median of 90 across 188 observational studies indexed under Peripheral Nervous System Diseases.
Browse Peripheral Nervous System Diseases studies →Argo Sante is the lead sponsor of 2 studies on the registry; none are open to participants now.
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Adults living in France diagnosed with Leber's hereditary optic neuropathy (LHON) for more than twelve months and less than five years
Exclusion Criteria:
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
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.
Time frame: once at enrollment
Measure the independence and independence-related quality of life
o 13-30 ARAMAV: independence scale comprising 9 daily life activities groups (personal care, meals intake and preparation, domestic care, finances, society life, practical life, outside travel. Each is evaluated regarding the level of realization, the help received, and the level of satisfaction. It gives 2 scores: an independence score where 100 represents an independent person and 0 a totally dependent person and a quality of life score where 100 represents the better quality of life and 0 is the worse quality of life.
Time frame: once at enrollment
Measure the cost of visual loss in terms of economic impact
ad-hoc questionnaire
Time frame: once at enrollment
Assess the patient's needs in care and social-economic support
ad-hoc questionnaire
Time frame: once at enrollment
Explore the relation between health status and employment conditions, education, and economic situation
ad-hoc questionnaire
Time frame: once at enrollment
Plan to share: No
This study is completed, as verified in Feb 2024. You cannot join it, but the record below documents what was studied.
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