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Completed

NCT Number: NCT05555784

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

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.

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Key information

Conditions

Leber's Hereditary Optic Neuropathy (LHON) Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cranial Nerve Diseases Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Metabolic Diseases Mitochondrial Diseases Nervous System Diseases Neurodegenerative Diseases Nutritional and Metabolic Diseases Optic Atrophies, Hereditary Optic Atrophy Optic Atrophy, Hereditary, Leber Optic Nerve Diseases

Age range

20 year–60 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Argo Sante

Orléans, 45160, France

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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

    Time frame: Once at enrollment

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

Secondary outcomes

  1. Measure the general quality of life

    Time frame: Once at enrollment

    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.

  2. Measure the vision-related quality of life

    Time frame: once at enrollment

    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.

  3. Measure the independence and independence-related quality of life

    Time frame: once at enrollment

    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.

  4. Measure the cost of visual loss in terms of economic impact

    Time frame: once at enrollment

    ad-hoc questionnaire

  5. Assess the patient's needs in care and social-economic support

    Time frame: once at enrollment

    ad-hoc questionnaire

  6. Explore the relation between health status and employment conditions, education, and economic situation

    Time frame: once at enrollment

    ad-hoc questionnaire

Sponsors and collaborators

Lead sponsor

Argo Sante

Other

Collaborators

  • GenSight Biologics

Registry information

Important dates

Study start
2022
Primary completion
2023
Study completion
2023
First posted
Sep 27, 2022
Registry last updated
Feb 6, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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