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

NCT05555784 | Completed

• 1 other identifier: 2022-A00552-41
• Study Type: observational
• Target: 12
• Locations: 1 country
• Sites: 1

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.

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

Outcome Measures

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

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

  Once at enrollment

Secondary Outcomes (6)

• Measure the general quality of life

  Once at enrollment

• Measure the vision-related quality of life

  once at enrollment

• Measure the independence and independence-related quality of life

  once at enrollment

• Measure the cost of visual loss in terms of economic impact

  once at enrollment

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

  once at enrollment

Eligibility Criteria

• Age: 20 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• 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

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Argo Sante: lead
• GenSight Biologics: collaborator

Study Sites (1)

Argo Sante

Orléans, 45160, France

Location

Related Publications (5)

• 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.

  PMID: 29554000 BACKGROUND

• 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.

  PMID: 19255150 BACKGROUND

• 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.

  PMID: 16083845 BACKGROUND

• 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.

  PMID: 34108929 BACKGROUND

• 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.

  PMID: 11897814 BACKGROUND

Related Links

• LHON's French patients community's website

MeSH Terms

Conditions

Optic Atrophy, Hereditary, Leber

Condition Hierarchy (Ancestors)

Optic Atrophies, Hereditary; Optic Atrophy; Optic Nerve Diseases; Cranial Nerve Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Eye Diseases, Hereditary; Eye Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Marieke Podevin, PhD

  Argo Sante

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 2, 2022
• First Posted: September 27, 2022
• Study Start: August 4, 2022
• Primary Completion: February 2, 2023
• Study Completion: February 2, 2023
• Last Updated: February 6, 2024

Record last verified: 2024-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)