GenSight Biologics announces that the highly regarded Journal of Neuro-Ophthalmology has published a qualitative study aimed at examining the impact of Leber’s Hereditary Optic Neuropathy (LHON) on patients and their loved ones. The study was featured in an article published last month on the journal’s website titled “The Impact of Leber Hereditary Optic Neuropathy on the Quality of Life of Patients and Their Relatives: A Qualitative Study.” This is the first study of its kind to examine this disease and its impact on patients and their relatives in four different countries.
The study found that the impact of LHON goes beyond visual activity limitations while addressing its psychosocial impact. She concluded that it is essential to help patients and their loved ones adapt to and cope with vision loss. It is also critical to have an accurate and prompt diagnosis to address these questions and allow for early intervention. “This study is the first to describe the impact of LHON on the families of those affected. Partners and families of those affected bear many responsibilities and bear some of the burden of LHON. The impact of LHON on partners and families has not been previously reported and it is vital that we recognize the support and care they provide,” said Patrick Yu-Wai-Man, MD, PhD, Moorfields Eye Hospital and Department of Clinical Neurosciences, University of Cambridge, UK.
Participants said they felt devastated by the LHON diagnosis after a long and worrisome diagnostic journey. They were also frustrated with the loss of autonomy that affected their loved ones. Participants described difficulties in several areas: physical abilities, emotional well-being, interpersonal relationships, work and study, finances and leisure activities. In addition, the study found that, despite living in different countries, LHON patients and their relatives described similar experiences in the four areas of interest of this study. These domains include experience prior to diagnosis, the impact of their disease on various aspects of life, perceptions of treatment, and expectations for future therapies.
“This study confirms what we have known in eye clinics for a long time that LHON affects all aspects of quality of life, not just activities that rely on vision. By understanding how LHON affects people who develop vision loss, doctors can intervene early and providing care that will improve the quality of life of those affected,” said Benson Chen, MD, Department of Clinical Neurosciences, University of Cambridge, UK. “This could be different types of assessments in eye clinics that would measure the emotional and psychological impact of LHON, or developing care pathways that give those affected access to psychological support and re-education at a professional level or on certain skills,” he added.
LHON is an inherited mitochondrial disease characterized by severe bilateral vision loss and chronic visual impairment. The aim of this study was to extensively investigate the impact of LHON on the lives of patients and their loved ones at the time of diagnosis and now.
The qualitative study design included eight focus group interviews in France, Germany, the United Kingdom and the United States, involving 17 people with the m.11778GA mutation and their relatives. Separate discussion groups for patients and their families were facilitated by a moderator in French, German or English. Neuro-ophthalmologists from the four participating countries helped identify additional patients who met the underrepresented sample criteria. The four countries were selected because they all established networks of people with LHON and because previous studies on LHON were conducted in the same locations.
The focus group interviews were conducted as part of market research sponsored by GenSight Biologics, and independently designed and conducted by groupH, a health market research and analytics company. The design and conduct of the study followed the guidelines of the European Association for Pharmaceutical Market Research and the British Healthcare Business Intelligence Association.