REALITY LHON Registry

NCT03295071 | Completed

• 1 other identifier: GS010_Registry_001
• Study Type: observational
• Target: 44
• Locations: 5 countries
• Sites: 11

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).

Conditions

Leber Hereditary Optic Neuropathy

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

Outcome Measures

Primary Outcomes (5)

• 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 Outcomes (1)

• Economic burden of disease

  Enrollment

Study Arms (1)

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)

Interventions

Patient-reported outcomes (PROs) OTHER

Patient-reported outcomes (PROs)

Single-group study

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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;

You may not qualify if:

• 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.

Sponsors & Collaborators

• GenSight Biologics: lead

Study Sites (11)

Doheny Eye Center UCLA Pasadena

Pasadena, California, 91105, United States

Location

Emory University Hospital

Atlanta, Georgia, 30322, United States

Location

Massachusetts Eye and Ear Infirmary

Boston, Massachusetts, 02114, United States

Location

Wills Eye Institute

Philadelphia, Pennsylvania, 19107, United States

Location

Alkek Eye Center

Houston, Texas, 77030, United States

Location

CHU d'Angers

Angers, 49100, France

Location

CHNO Les Quinze Vingts

Paris, 75012, France

Location

Ospedale Bellaria

Bologna, 40139, Italy

Location

Ospedale San Raffaele

Milan, 20132, Italy

Location

Institut Catala de Retina

Barcelona, 08022, Spain

Location

Moorfields Eye Hospital

London, Greater London, EC1V 2PD, United Kingdom

Location

Related Publications (2)

• Carelli V, Newman NJ, Yu-Wai-Man P, Biousse V, Moster ML, Subramanian PS, Vignal-Clermont C, Wang AG, Donahue SP, Leroy BP, Sergott RC, Klopstock T, Sadun AA, Rebolleda Fernandez G, Chwalisz BK, Banik R, 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; the LHON Study Group. Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation. Ophthalmol Ther. 2023 Feb;12(1):401-429. doi: 10.1007/s40123-022-00611-x. Epub 2022 Nov 30.

  PMID: 36449262 DERIVED

• 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.

  PMID: 34108929 DERIVED

Related Links

• GenSight Biologics Website

MeSH Terms

Conditions

Optic Atrophy, Hereditary, Leber; Eye Diseases; Eye Diseases, Hereditary; Genetic Diseases, Inborn; Mitochondrial Diseases; Nervous System Diseases; Neurodegenerative Diseases

Interventions

Patient Reported Outcome Measures

Condition Hierarchy (Ancestors)

Optic Atrophies, Hereditary; Optic Atrophy; Optic Nerve Diseases; Cranial Nerve Diseases; Heredodegenerative Disorders, Nervous System; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Health Care Surveys; Surveys and Questionnaires; Data Collection; Epidemiologic Methods; Investigative Techniques; Health Services Research; Health Planning; Health Care Economics and Organizations; Patient Outcome Assessment; Outcome Assessment, Health Care; Outcome and Process Assessment, Health Care; Quality of Health Care; Health Services Administration; Health Care Quality, Access, and Evaluation; Health Care Evaluation Mechanisms; Public Health; Environment and Public Health

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Target Duration: 3 Years
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 22, 2017
• First Posted: September 27, 2017
• Study Start: January 3, 2018
• Primary Completion: July 1, 2020
• Study Completion: July 1, 2020
• Last Updated: March 2, 2026

Record last verified: 2026-02

Locations

US (5); FR (2); IT (2); GB (1); ES (1)