REALITY LHON Registry
- Conditions
- Leber Hereditary Optic Neuropathy
- Interventions
- Other: Patient-reported outcomes (PROs)
- Registration Number
- NCT03295071
- Lead Sponsor
- GenSight Biologics
- 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 44
- 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;
- 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 & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Single-group study Patient-reported outcomes (PROs) 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).
- Primary Outcome Measures
Name Time Method Visual Function All assessments available before enrollment Visual function will include visual examination data from medical records.
The National Eye Institute Visual Function Questionnaire (VFQ)-25 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.
The 36-Item Short Form Health Survey (SF-36) Enrollment The SF-36 surveys health status and quality of life
Child Health Questionnaire (CHQ) 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.
EuroQol-5 Dimension (EQ-5D)-5L 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
Name Time Method Economic burden of disease 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
Trial Locations
- Locations (11)
Doheny Eye Center UCLA Pasadena
🇺🇸Pasadena, California, United States
Wills Eye Institute
🇺🇸Philadelphia, Pennsylvania, United States
Emory University Hospital
🇺🇸Atlanta, Georgia, United States
Massachusetts Eye and Ear Infirmary
🇺🇸Boston, Massachusetts, United States
CHU d'Angers
🇫🇷Angers, France
Ospedale San Raffaele
🇮🇹Milano, Italy
CHNO Les Quinze Vingts
🇫🇷Paris, France
Ospedale Bellaria
🇮🇹Bologna, Italy
Alkek Eye Center
🇺🇸Houston, Texas, United States
Institut Catala de Retina
🇪🇸Barcelona, Spain
Moorfields Eye Hospital
🇬🇧London, Greater London, United Kingdom