REALITY LHON Registry (REALITY)

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

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).

Study Overview

• Status: Completed
• Conditions: Leber Hereditary Optic Neuropathy
• Intervention / Treatment: Other: 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.

• Study Type: Observational
• Enrollment (Actual): 44

Contacts and Locations

Study Locations

• France
  • Angers, France, 49100
    • CHU d'Angers
  • Paris, France, 75012
    • CHNO Les Quinze Vingts
• Italy
  • Bologna, Italy, 40139
    • Ospedale Bellaria
  • Milano, Italy, 20132
    • Ospedale San Raffaele
• Spain
  • Barcelona, Spain, 08022
    • Institut Catala de Retina
• United Kingdom
  • Greater London
    • London, Greater London, United Kingdom, EC1V 2PD
      • Moorfields Eye Hospital
• United States
  • California
    • Pasadena, California, United States, 91105
      • Doheny Eye Center UCLA Pasadena
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Emory University Hospital
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Massachusetts Eye and Ear Infirmary
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19107
      • Wills Eye Institute
  • Texas
    • Houston, Texas, United States, 77030
      • Alkek Eye Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

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.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Cross-Sectional

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Single-group study; 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)

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: GenSight Biologics

Publications and helpful links

General Publications

• Newman NJ, Yu-Wai-Man P, Carelli V, Biousse V, Moster ML, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA. Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison. Front Neurol. 2021 May 24;12:662838. doi: 10.3389/fneur.2021.662838. eCollection 2021.

Helpful Links

• GenSight Biologics Website

Study record dates

Study Major Dates

• Study Start (Actual): January 3, 2018
• Primary Completion (Actual): July 1, 2020
• Study Completion (Actual): July 1, 2020

Study Registration Dates

• First Submitted: September 22, 2017
• First Submitted That Met QC Criteria: September 26, 2017
• First Posted (Actual): September 27, 2017

Study Record Updates

• Last Update Posted (Actual): February 8, 2021
• Last Update Submitted That Met QC Criteria: February 3, 2021
• Last Verified: July 1, 2020

More Information

Terms related to this study

• Keywords: Gene Therapy; Heredity Optic Atrophy; Leber Hereditary Optic Atrophy; Leber Hereditary Optic Neuropathy; Eye Diseases; Hereditary Eye Diseases; Inherited retinal dystrophies or degeneration; Inborn Genetic Disease; Intravitreal Injections; Mitochondrial Disease; AAV2 Vectors; Nervous System Diseases; Neurodegenerative Disease; Heredodegenerative Disorders of the Nervous System
• Additional Relevant MeSH Terms: Metabolic Diseases; Nervous System Diseases; Eye Diseases; Genetic Diseases, Inborn; Neurodegenerative Diseases; Eye Diseases, Hereditary; Heredodegenerative Disorders, Nervous System; Cranial Nerve Diseases; Optic Atrophies, Hereditary; Optic Atrophy; Mitochondrial Diseases; Optic Nerve Diseases; Optic Atrophy, Hereditary, Leber
• Other Study ID Numbers: GS010_Registry_001

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No