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.

Study Overview

• Status: Completed
• Conditions: Leber's Hereditary Optic Neuropathy (LHON)

Detailed Description

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 (Actual): 12

Contacts and Locations

• Study Contact: Name: Marieke Podevin, PhD; Phone Number: +336 79 62 14 49; Email: contact@argosante.eu

Study Locations

• France
  • Orléans, France, 45160
    • Argo Sante

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 20 years to 60 years (Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Adults living in France diagnosed with Leber's hereditary optic neuropathy (LHON) for more than twelve months and less than five years

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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	Once at enrollment

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.	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.	once at enrollment
Measure the cost of visual loss in terms of economic impact	ad-hoc questionnaire	once at enrollment
Assess the patient's needs in care and social-economic support	ad-hoc questionnaire	once at enrollment
Explore the relation between health status and employment conditions, education, and economic situation	ad-hoc questionnaire	once at enrollment

Collaborators and Investigators

• Sponsor: Argo Sante
• Collaborators: GenSight Biologics
• Investigators: Principal Investigator: Marieke Podevin, PhD, Argo Sante

Publications and helpful links

General Publications

• Cui S, Jiang H, Peng J, Wang J, Zhang X. Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber Hereditary Optic Neuropathy and the G11778A Mutation. J Neuroophthalmol. 2019 Mar;39(1):56-59. doi: 10.1097/WNO.0000000000000644.
• Kirkman MA, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Griffiths PG, Hudson G, Chinnery PF, Yu-Wai-Man P. Quality of life in patients with leber hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3112-5. doi: 10.1167/iovs.08-3166. Epub 2009 Feb 28.
• Newman NJ. Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Ophthalmol. 2005 Sep;140(3):517-23. doi: 10.1016/j.ajo.2005.03.017.
• Newman NJ, Yu-Wai-Man P, Carelli V, Biousse V, Moster ML, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA. Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison. Front Neurol. 2021 May 24;12:662838. doi: 10.3389/fneur.2021.662838. eCollection 2021.
• Yu-Wai-Man P, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet. 2002 Mar;39(3):162-9. doi: 10.1136/jmg.39.3.162.

Helpful Links

• LHON's French patients community's website

Study record dates

Study Major Dates

• Study Start (Actual): August 4, 2022
• Primary Completion (Actual): February 2, 2023
• Study Completion (Actual): February 2, 2023

Study Registration Dates

• First Submitted: September 2, 2022
• First Submitted That Met QC Criteria: September 22, 2022
• First Posted (Actual): September 27, 2022

Study Record Updates

• Last Update Posted (Actual): February 6, 2024
• Last Update Submitted That Met QC Criteria: February 5, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Keywords: Leber's hereditary optic neuropathy (LHON), quality of life, loss of independence, social life, family, socio-professional, France
• Additional Relevant MeSH Terms: Metabolic Diseases; Nervous System Diseases; Eye Diseases; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Eye Diseases, Hereditary; Heredodegenerative Disorders, Nervous System; Cranial Nerve Diseases; Optic Atrophies, Hereditary; Optic Atrophy; Mitochondrial Diseases; Peripheral Nervous System Diseases; Optic Nerve Diseases; Optic Atrophy, Hereditary, Leber
• Other Study ID Numbers: 2022-A00552-41

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No