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Completed

NCT Number: NCT03295071

REALITY LHON Registry

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).

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Key information

Conditions

Leber Hereditary Optic Neuropathy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cranial Nerve Diseases Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Metabolic Diseases Mitochondrial Diseases Nervous System Diseases Neurodegenerative Diseases Nutritional and Metabolic Diseases Optic Atrophies, Hereditary Optic Atrophy Optic Atrophy, Hereditary, Leber Optic Nerve Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU d'Angers, Angers, France

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Patient-reported outcomes (PROs)

Other

Patient-reported outcomes (PROs)

Primary outcomes

  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 outcomes

  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

Sponsors and collaborators

Lead sponsor

GenSight Biologics

Industry

Registry information

Official study title

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

Acronym: REALITY

Important dates

Study start
2018
Primary completion
2020
Study completion
2020
First posted
Sep 27, 2017
Registry last updated
Mar 2, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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