NCT02575430

Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT

Retrospective, Uncontrolled, Multicenter, Case History Study to Determine the Natural History of Visual Function in Subjects With Inherited Retinal Disease (IRD) Caused by Inherited Mutation of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 59 (actual)
• Sponsor: QLT Inc. · Industry
• Sex: All
• Age: 8 Years
• Healthy volunteers: Not accepted

Summary

To evaluate the natural history of visual function in subjects with IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations.

Detailed description

This is a retrospective, uncontrolled, multicenter, case history study to determine the natural history of visual function in patients with IRD phenotypically diagnosed as LCA or RP caused by autosomal recessive mutation in RPE65 or LRAT. Up to 60 subjects will be enrolled in this study at approximately 12 study centers in Canada, the US and Europe.

Conditions

• Leber Congenital Amaurosis (LCA)
• Retinitis Pigmentosa (RP)

Interventions

Type	Name	Description
OTHER	No treatment: retrospective chart review

Timeline

• Start date: 2015-12-01
• Primary completion: 2016-03-01
• Completion: 2016-03-01
• First posted: 2015-10-14
• Last updated: 2016-04-29

Locations

9 sites across 7 countries: United States, Canada, Denmark, Germany, Netherlands, Switzerland, United Kingdom