REALITY LHON Registry

Sponsor

GenSight Biologics (Industry)

Overall Status

Completed

CT.gov ID

NCT03295071

Collaborator

(none)

Enrollment

Locations

29.9

Actual Duration (Months)

Patients Per Site

0.1

Patients Per Site Per Month

Study Details

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	Phase
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

Official Title:

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

Actual Study Start Date :

Jan 3, 2018

Actual Primary Completion Date :

Jul 1, 2020

Actual Study Completion Date :

Jul 1, 2020

Arms and Interventions

Arm	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)

Arm

Intervention/Treatment

Single-group study

Other: Patient-reported outcomes (PROs)

Patient-reported outcomes (PROs)

Outcome Measures

Primary Outcome Measures

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

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

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

	Site	City	State	Country	Postal Code
1	Doheny Eye Center UCLA Pasadena	Pasadena	California	United States	91105
2	Emory University Hospital	Atlanta	Georgia	United States	30322
3	Massachusetts Eye and Ear Infirmary	Boston	Massachusetts	United States	02114
4	Wills Eye Institute	Philadelphia	Pennsylvania	United States	19107
5	Alkek Eye Center	Houston	Texas	United States	77030
6	CHU d'Angers	Angers		France	49100
7	CHNO Les Quinze Vingts	Paris		France	75012
8	Ospedale Bellaria	Bologna		Italy	40139
9	Ospedale San Raffaele	Milano		Italy	20132
10	Institut Catala de Retina	Barcelona		Spain	08022
11	Moorfields Eye Hospital	London	Greater London	United Kingdom	EC1V 2PD