Therapy Areas: Central Nervous System
Journal of Neuro-Ophthalmology Publishes Study of the Impact of LHON Disease on the Lives of Patients and Relatives
20 May 2022 - - The Journal of Neuro-Ophthalmology has published a qualitative study to explore the impact of Leber Hereditary Optic Neuropathy on patients and their relatives, French biopharmaceutical company GenSight Biologics (Euronext: SIGHT) (ISIN: FR0013183985) (PEA-PME eligible) said.

The study was featured in a paper published on the journal's website last month titled, "The Impact of Leber Hereditary Optic Neuropathy on the Quality of Life of Patients and Their Relatives: A Qualitative Study."

It is the first of its kind to explore this condition and its impact for patients and relatives in four different countries.

The study determined that the impact of LHON extends beyond vision-related activity limitations, while addressing its psychosocial impact. It concluded that helping patients and their relatives adapt and cope with vision loss is vital.

An accurate and timely diagnosis for patients is also crucial to address these issues and also to allow for early intervention.

Participants reported feeling devasaid by the diagnosis of LHON after a lengthy and worrisome diagnostic journey.

They were also frustrated by the loss of autonomy that affected their relatives. Participants described challenges across several domains: physical capabilities, emotional well-being, interpersonal relationships, work and studies, finances, and recreational activities.

Additionally, the study determined that despite residing in different countries, LHON patients and their relatives described similar experiences in the four areas of focus in this study.

These areas include experience leading to the point of diagnosis; impact of their condition on various aspects of life; perceptions about treatment; and expectations toward future therapies.

LHON is an inherited mitochondrial disease characterized by severe bilateral vision loss and chronic visual impairment. The objective of this study was to comprehensively explore the impact of LHON on the lives of patients and their relatives at the time of diagnosis and now.

The qualitative study design encompassed eight focus group interviews conducted in France, Germany, the United Kingdom, and the United States, involving 17 individuals with m.11778G>A mutation and their relatives.

Separate focus groups for patients and their relatives were facilitated by a moderator in French, German, or English.

Neuro-ophthalmologists in the four countries who participated helped to identify additional patients who fulfilled under-represented sampling criteria.

The four countries were selected because all have established networks of individuals with LHON and were places where previous LHON studies have been conducted.

Focus group interviews were conducted as part of a market research study sponsored by GenSight Biologics, and independently designed and conducted by groupH, a health care market research and analytics firm.

The design and conduct of the study complied with the European Pharmaceutical Market Research Association and British Healthcare Business Intelligence Association guidelines.

GenSight Biologics S.A. is a clinical-stage biopharma company focused on developing and commercializing innovative gene therapies for retinal neurodegenerative diseases and central nervous system disorders.

The company's pipeline leverages two core technology platforms, the Mitochondrial Targeting Sequence and optogenetics, to help preserve or restore vision in patients suffering from blinding retinal diseases.

GenSight Biologics' lead product candidate, LUMEVOQ (GS010; lenadogene nolparvovec), has been submitted for marketing approval in Europe for the treatment of Leber Hereditary Optic Neuropathy, a rare mitochondrial disease affecting primarily teens and young adults that leads to irreversible blindness.

Using its gene therapy-based approach, GenSight Biologics' product candidates are designed to be administered in a single treatment to each eye by intravitreal injection to offer patients a sustainable functional visual recovery.

Leber Hereditary Optic Neuropathy is a rare maternally inherited mitochondrial genetic disease, characterized by the degeneration of retinal ganglion cells that results in brutal and irreversible vision loss that can lead to legal blindness, and mainly affects adolescents and young adults.

LHON is associated with painless, sudden loss of central vision in the 1st eye, with the 2nd eye sequentially impaired. It is a symmetric disease with poor functional visual recovery.

97% of patients have bilateral involvement at less than one year of onset of vision loss, and in 25% of cases, vision loss occurs in both eyes simultaneously.

The estimated incidence of LHON is approximately 800-1,200 new patients who lose their sight every year in the United States and the European Union.


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