Leber Hereditary Optic Neuropathy
Conditions
Keywords
Heredity Optic Atrophy, Leber Hereditary Optic Atrophy, Leber Hereditary Optic Neuropathy, Eye Diseases, Hereditary Eye Diseases, Inherited retinal dystrophies or degeneration, Inborn Genetic Disease, Gene Therapy, Intravitreal Injections, Mitochondrial Disease, AAV2 Vectors, Nervous System Diseases, Neurodegenerative Disease, Heredodegenerative Disorders of the Nervous System
Brief summary
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).
Detailed description
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.
Interventions
Patient-reported outcomes (PROs)
Sponsors
GenSight Biologics
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Subjects who have a confirmed and genotyped diagnosis of LHON; * Subjects with visual function outcomes data including at least 2 visual function assessments between 1 year and 3 years (+/- 4 weeks) after vision loss; * Subjects who are willing and able to provide written informed consent if required as per local regulations; * For LHON subjects under the age of 18 years, permission from a legal guardian to participate in the study;
Exclusion criteria
* Subjects who received any investigational drug, or participated in any LHON-related interventional clinical trial during the observational period; * Subjects without medical charts data available.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Visual Function | All assessments available before enrollment | Visual function will include visual examination data from medical records. |
| The National Eye Institute Visual Function Questionnaire (VFQ)-25 | Enrollment | 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. |
| The 36-Item Short Form Health Survey (SF-36) | Enrollment | The SF-36 surveys health status and quality of life |
| Child Health Questionnaire (CHQ) | Enrollment | 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. |
| EuroQol-5 Dimension (EQ-5D)-5L | Enrollment | The EuroQol-5 Dimension-5 Level (EQ-5D-5L) is a generic HRQoL instrument that is widely used as a PRO measure. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Economic burden of disease | Enrollment | 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 |
Countries
France, Italy, Spain, United Kingdom, United States
Outcome results
None listed