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
Among 23 studies in Optic Atrophy, Hereditary, Leber with a site in United States — 4 open to participants now, 6 under way, 2 of them phase 3. Optic Atrophy, Hereditary, Leber · United States.
Among the 23 studies in Optic Atrophy, Hereditary, Leber with a site in United States, this one is one of 3 that started in 2018, is one of 3 observational ones, and was the 16th registered.
44 studies on the registry are indexed under Optic Atrophy, Hereditary, Leber; 9 are open to participants now.
Browse Optic Atrophy, Hereditary, Leber studies →4 of the 23 studies in Optic Atrophy, Hereditary, Leber with a site in United States are open now. Recruiting first, the newest first:
Laboratoires Thea · Sites in United States, Australia, Belgium and 7 more countries
Randy Kardon · Sites in United States
MD Stem Cells · Sites in United States, Austria, United Arab Emirates
Columbia University · Sites in United States, Canada
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 7 Optic Atrophy, Hereditary, Leber studies recruiting now, 4 (57%) set no upper age limit and 2 (29%) stop at 75 or younger; 4 take children under 18; 3 take healthy volunteers.
This study: all sexes · no healthy volunteers.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
23 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 7 · Phase 2 9 · Phase 3 6 · Phase 4 1
First in 2010; this study’s year is marked. 3 started in 2018.
Median enrollment 36 across the 19 interventional studies, 44 across the 3 observational. Of the 16 that completed or were terminated, 12 (75%) have results posted.
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16 of 23 have an industry lead sponsor. The 10 most frequent:
GenSight Biologics is the lead sponsor of 9 studies on the registry; 1 is open to participants now.
GenSight Biologics has 8 studies filed under Optic Atrophy, Hereditary, Leber — fewer than ten, so there is no comparison to draw.
3 of the studies in Optic Atrophy, Hereditary, Leber with a site in United States that are under way reach primary completion within a year, 1 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT06891443Phase 3Laboratoires TheaStudy to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION) | 2027-11 |
| NCT01694940Columbia UniversityNorth American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) | 2026-12-31 |
| NCT03011541MD Stem CellsStem Cell Ophthalmology Treatment Study II | 2027-07-31 |
Among the 23 studies in Optic Atrophy, Hereditary, Leber with a site in United States, from their registry updates:
Nothing recorded among them since 2026-09-25.
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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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Investigational drug or device
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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
Ran from Jan 2018 to primary completion in Jul 2020, 29 months.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Feb 2026. You cannot join it, but the record below documents what was studied.
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