REALITY LHON Registry

Study Overview
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Brief Summary
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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).

Detailed Description
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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.

Official Title
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Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients

Conditions
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Leber Hereditary Optic Neuropathy

Intervention / Treatment
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* Other: Patient-reported outcomes (PROs)


Participation Criteria
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Eligibility Criteria
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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.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Single-group study<br>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)<br>* Patient-reported outcomes (PROs)<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Visual Function | Visual function will include visual examination data from medical records. | 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. | Enrollment | 
| The 36-Item Short Form Health Survey (SF-36) | The SF-36 surveys health status and quality of life | 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. | 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. | Enrollment | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | Enrollment | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Neurodegenerative Disease, Heredodegenerative Disorders of the Nervous System, 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