Clinical trial 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
Official title: 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
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Leber's Hereditary Optic Neuropathy (LHON)
Keywords: Leber's hereditary optic neuropathy (LHON), quality of life, loss of independence, social life, family, socio-professional, France
Lead sponsor: Argo Sante
Sponsor class: OTHER
Collaborators: name: GenSight Biologics
First posted: 2022-09-27
Enrollment: 12
Sex: ALL
Minimum age (years): 20
Maximum age (years): 60
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: RETROSPECTIVE
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

Brief summary: 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.

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

Eligibility criteria: 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

Primary outcomes:
measure: Describe the disease impact on quality of life through qualitative data of loss of independence of patients suffering from LHON and living in France
timeFrame: Once at enrollment
Secondary outcomes:
measure: Measure the general quality of life
timeFrame: Once at enrollment
measure: Measure the vision-related quality of life
timeFrame: once at enrollment
measure: Measure the independence and independence-related quality of life
timeFrame: once at enrollment
measure: Measure the cost of visual loss in terms of economic impact
timeFrame: once at enrollment
measure: Assess the patient's needs in care and social-economic support
timeFrame: once at enrollment
measure: Explore the relation between health status and employment conditions, education, and economic situation
timeFrame: once at enrollment
Other outcomes:
Locations:
city: Orléans
country: France
facility: Argo Sante
Study officials:
affiliation: Argo Sante
name: Marieke Podevin, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.
citation: 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.
citation: 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.
citation: 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.