Clinical trial NCT03295071: REALITY LHON Registry
Official title: Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients
Study type: OBSERVATIONAL
Overall status: COMPLETED
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
Lead sponsor: GenSight Biologics
Sponsor class: INDUSTRY
First posted: 2017-09-27
Enrollment: 44
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
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.

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).

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.

Eligibility 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.

Primary outcomes:
measure: Visual Function
timeFrame: All assessments available before enrollment
measure: The National Eye Institute Visual Function Questionnaire (VFQ)-25
timeFrame: Enrollment
measure: The 36-Item Short Form Health Survey (SF-36)
timeFrame: Enrollment
measure: Child Health Questionnaire (CHQ)
timeFrame: Enrollment
measure: EuroQol-5 Dimension (EQ-5D)-5L
timeFrame: Enrollment
Secondary outcomes:
measure: Economic burden of disease
timeFrame: Enrollment
Other outcomes:
Locations:
city: Pasadena
country: United States
facility: Doheny Eye Center UCLA Pasadena
state: California
city: Atlanta
country: United States
facility: Emory University Hospital
state: Georgia
city: Boston
country: United States
facility: Massachusetts Eye and Ear Infirmary
state: Massachusetts
city: Philadelphia
country: United States
facility: Wills Eye Institute
state: Pennsylvania
city: Houston
country: United States
facility: Alkek Eye Center
state: Texas
city: Angers
country: France
facility: CHU d'Angers
city: Paris
country: France
facility: CHNO Les Quinze Vingts
city: Bologna
country: Italy
facility: Ospedale Bellaria
city: Milano
country: Italy
facility: Ospedale San Raffaele
city: Barcelona
country: Spain
facility: Institut Catala de Retina
city: London
country: United Kingdom
facility: Moorfields Eye Hospital
state: Greater London
Study officials:
References:
citation: 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.