REALITY LHON Registry

Leber Hereditary Optic Neuropathy Clinical Trial

— REALITY  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03295071
• Other study ID #: GS010_Registry_001
• Status: Completed
• Start date: January 3, 2018
• Est. completion date: July 1, 2020

Study information

• Verified date: July 2020
• Source: GenSight Biologics
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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).

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 information / eligibility

• Status: Completed
• Enrollment: 44
• Est. completion date: July 1, 2020
• Est. primary completion date: July 1, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Leber Hereditary Optic Neuropathy
• Optic Atrophy, Hereditary, Leber
• Optic Nerve Diseases

Intervention

Other:
• Patient-reported outcomes (PROs)
Patient-reported outcomes (PROs)

Locations

Country	Name	City	State
France	CHU d'Angers	Angers
France	CHNO Les Quinze Vingts	Paris
Italy	Ospedale Bellaria	Bologna
Italy	Ospedale San Raffaele	Milano
Spain	Institut Catala de Retina	Barcelona
United Kingdom	Moorfields Eye Hospital	London	Greater London
United States	Emory University Hospital	Atlanta	Georgia
United States	Massachusetts Eye and Ear Infirmary	Boston	Massachusetts
United States	Alkek Eye Center	Houston	Texas
United States	Doheny Eye Center UCLA Pasadena	Pasadena	California
United States	Wills Eye Institute	Philadelphia	Pennsylvania

Sponsors (1)

Lead Sponsor	Collaborator
GenSight Biologics

Countries where clinical trial is conducted

United States,  France,  Italy,  Spain,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Visual Function	Visual function will include visual examination data from medical records.	All assessments available before enrollment
Primary	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
Primary	The 36-Item Short Form Health Survey (SF-36)	The SF-36 surveys health status and quality of life	Enrollment
Primary	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
Primary	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	Economic burden of disease	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	Enrollment

External Links

•   GenSight Biologics Website