Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene — RPE65-NHS  

Leber Congenital Amaurosis 2 Clinical Trial

Official title: Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene

Status Completed

Clinical Trial Summary

Rationale:

In preparation for treatment with gene therapy, this study is being conducted in order to investigate the natural history of Inherited Retinal Dystrophies (IRDs) due to mutations in RPE65 gene. Such a study will help identify suitable patients for therapeutic intervention.

Methodology:

This is a multicenter retrospective, descriptive chart review study designed to assess retinal structure and function in subjects with IRDs due to mutation in RPE65 gene by visual acuity, visual field measurements, Optical Coherence Tomography (OCT), and a number of other vision-related assessments.

Clinical Trial Description

n/a

Related Conditions & MeSH terms

• Blindness
• Leber Congenital Amaurosis
• Leber Congenital Amaurosis 2
• Retinal Diseases
• Retinitis
• Retinitis Pigmentosa
• Retinitis Pigmentosa 20

• NCT number: NCT04525261
• Study type: Observational
• Source: University of Campania "Luigi Vanvitelli"
• Status: Completed
• Start date: May 1, 2020
• Completion date: July 31, 2020