REALITY LHON Registry

GenSight Biologics44 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Leber Hereditary Optic Neuropathy

Interventions

Patient-reported outcomes (PROs)OTHER

Patient-reported outcomes (PROs)

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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.

Locations (11)

Doheny Eye Center UCLA Pasadena

Pasadena, California, United States

Emory University Hospital

Atlanta, Georgia, United States

Massachusetts Eye and Ear Infirmary

Boston, Massachusetts, United States

Outcomes

Primary Outcomes

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

Secondary Outcomes

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

Data from ClinicalTrials.gov

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