An observational study in Leber Hereditary Optic Neuropathy, sponsored by GenSight Biologics. Completed at 11 sites in 5 countries. Per ClinicalTrials.gov, last updated 2026-03-02.
Sponsored by GenSight Biologics · Observational
This study is a multi-country retrospective and cross-sectional observational study of affected LHON subjects, based on retrospective subjects' medical chart abstractions and cross-sectional administration of patient-reported outcomes (PROs).
The purpose of this study is to understand the evolution of visual functional and structural changes and other associated symptoms in patients with LHON. The relation between genetic, lifestyle and/or environmental factors and the LHON disease will be described, and a better understanding of the natural history of LHON disease and the healthcare associated to with the disease will be sought.
In addition, we would also like to understand the economic burden for patients and their families with LHON resulting from direct and indirect costs they may have because of their disease.
The study will recruit at least 50 affected LHON subjects (both adult and pediatric) from global clinical sites at the following countries, but not limited to: Spain, Italy, France, United Kingdom, and the United States. Efforts will be done to maintain the population of at least 50 affected LHON subjects.
Recruitment efforts of recruiting approximately 75% of eligible subjects with 11778/ND4 mutation and 30% of eligible subjects under the age of 18 at the time of index date, wherever possible, will be done at the study level.
Exclusion Criteria:
This study is a multi-country retrospective and cross-sectional observational study of affected LHON subjects, based on retrospective subjects' medical chart abstractions and cross-sectional administration of patient-reported outcomes (PROs).
Other: Patient-reported outcomes (PROs)
Patient-reported outcomes (PROs)
Visual Function
Visual function will include visual examination data from medical records.
Time frame: All assessments available before enrollment
The National Eye Institute Visual Function Questionnaire (VFQ)-25
The National Eye Institute Visual Function Questionnaire (NEI-VFQ or VFQ)-25 is a valid and reliable 25-item version of the 51-item VFQ.
Time frame: Enrollment
The 36-Item Short Form Health Survey (SF-36)
The SF-36 surveys health status and quality of life
Time frame: Enrollment
Child Health Questionnaire (CHQ)
The CHQ uses the same structure and methodological approach as the SF-36 and is designed and normed for children from 5-to-18 years of age.
Time frame: Enrollment
EuroQol-5 Dimension (EQ-5D)-5L
The EuroQol-5 Dimension-5 Level (EQ-5D-5L) is a generic HRQoL instrument that is widely used as a PRO measure.
Time frame: Enrollment
Economic burden of disease
Data will be gathered by questionnaire at cross-sectional survey. Direct costs and indirect costs resulting from LHON will be estimated by all enrolled subjects. Direct costs will include the medical and non-medical direct costs due to LHON
Time frame: Enrollment
This study is completed, as verified in Feb 2026. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Optic Atrophy, Hereditary, Leber→
GenSight Biologics