REALITY LHON Registry (REALITY)

• ClinicalTrials.gov Identifier: NCT03295071
• Recruitment Status: Completed
• First Posted: September 27, 2017
• Last Update Posted: February 8, 2021
• Sponsor: GenSight Biologics
• Information provided by (Responsible Party): GenSight Biologics

Study Description

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).

Condition or disease	Intervention/treatment
Leber Hereditary Optic Neuropathy	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 Design

• Study Type: Observational [Patient Registry]
• Actual Enrollment: 44 participants
• Observational Model: Cohort
• Time Perspective: Cross-Sectional
• Target Follow-Up Duration: 3 Years
• Official Title: Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients
• Actual Study Start Date: January 3, 2018
• Actual Primary Completion Date: July 1, 2020
• Actual Study Completion Date: July 1, 2020

Groups and Cohorts

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)

Outcome Measures

Primary Outcome Measures :

1. Visual Function [ Time Frame: All assessments available before enrollment ]
   Visual function will include visual examination data from medical records.
2. The National Eye Institute Visual Function Questionnaire (VFQ)-25 [ Time Frame: 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.
3. The 36-Item Short Form Health Survey (SF-36) [ Time Frame: Enrollment ]
   The SF-36 surveys health status and quality of life
4. Child Health Questionnaire (CHQ) [ Time Frame: 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.
5. EuroQol-5 Dimension (EQ-5D)-5L [ Time Frame: Enrollment ]
   The EuroQol-5 Dimension-5 Level (EQ-5D-5L) is a generic HRQoL instrument that is widely used as a PRO measure.

Secondary Outcome Measures :

1. Economic burden of disease [ Time Frame: 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

Eligibility Criteria

• Ages Eligible for Study: Child, Adult, Older Adult
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• 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.

Criteria

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.

Contacts and Locations

Locations

United States, California

Doheny Eye Center UCLA Pasadena

Pasadena, California, United States, 91105

United States, Georgia

Emory University Hospital

Atlanta, Georgia, United States, 30322

United States, Massachusetts

Massachusetts Eye and Ear Infirmary

Boston, Massachusetts, United States, 02114

United States, Pennsylvania

Wills Eye Institute

Philadelphia, Pennsylvania, United States, 19107

United States, Texas

Alkek Eye Center

Houston, Texas, United States, 77030

France

CHU d'Angers

Angers, France, 49100

CHNO Les Quinze Vingts

Paris, France, 75012

Italy

Ospedale Bellaria

Bologna, Italy, 40139

Ospedale San Raffaele

Milano, Italy, 20132

Spain

Institut Catala de Retina

Barcelona, Spain, 08022

United Kingdom

Moorfields Eye Hospital

London, Greater London, United Kingdom, EC1V 2PD

Sponsors and Collaborators

GenSight Biologics

More Information

Additional Information:

GenSight Biologics Website 

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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.

• Responsible Party: GenSight Biologics
• ClinicalTrials.gov Identifier: NCT03295071
• Other Study ID Numbers: GS010_Registry_001
• First Posted: September 27, 2017
• Last Update Posted: February 8, 2021
• Last Verified: July 2020

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Keywords provided by GenSight Biologics:

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

Additional relevant MeSH terms:

Optic Nerve Diseases; Optic Atrophy, Hereditary, Leber; Nervous System Diseases; Cranial Nerve Diseases; Eye Diseases; Optic Atrophies, Hereditary; Optic Atrophy; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Eye Diseases, Hereditary; Genetic Diseases, Inborn; Mitochondrial Diseases; Metabolic Diseases