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

Completed

• Conditions: Leber Congenital Amaurosis (LCA); Retinitis Pigmentosa (RP)

• Registration Number: NCT02575430
• Lead Sponsor: QLT Inc.

Brief 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.

Study Timeline

• Study First Submitted: 2015-10-09
• Study First Submitted QC: 2015-10-09
• Study First Posted: 2015-10-14
• Study Start: 2015-12
• Primary Completion: 2016-03
• Study Completion: 2016-03
• Status Verified: 2016-04
• Last Update Submitted: 2016-04-28
• Last Update Posted: 2016-04-29

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 59

Inclusion Criteria

• Male or female subjects aged 8 or older with IRD (LCA or RP) caused by inherited autosomal recessive mutation in either RPE65 or LRAT.
• Subjects who have at least 2 documented kinetic visual field assessments of the same isopter(s) in at least one eye performed at least 2 years apart on the same type of equipment when the subject was between the ages of 6 and 65 years.
• If applicable, subjects who provide informed consent for the study (the requirement for informed consent may be applicable to all sites or may be waived by the IRB and/or local regulations). The parent or guardian must sign an approved informed consent form for the study for subjects younger than the age of majority.

Exclusion Criteria

• Subjects, who in the Investigator's opinion, have any severe acute or chronic medical condition, psychiatric condition, physical examination finding or laboratory abnormality that may interfere with the interpretation of their visual function data.
• Subjects with concomitant bilateral ocular disorders that may affect visual acuity or visual fields (e.g., advanced glaucoma, optic neuritis, anterior ischemic optic neuropathy, advanced cataract, intraocular surgery).

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Visual field	Change in visual field over time. Previous assessments performed when subject was between the ages of 6 and 65 years

Secondary Outcome Measures

Name	Time	Method
Visual acuity	Change in visual acuity over time. Previous assessments performed when subject was between the ages of 6 and 65 years

Trial Locations

Locations (9)

Wilmer Eye Institute - Johns Hopkins Hospital; 🇺🇸 Baltimore, Maryland, United States

Casey Eye Institute - Marquam Hill; 🇺🇸 Portland, Oregon, United States

The Hospital for Sick Children, Ophthalmology and Vision Sciences; 🇨🇦 Toronto, Ontario, Canada

Montreal Children's Hospital, McGill University Health Centre; 🇨🇦 Montreal, Quebec, Canada

Glostrup Hospital and National Eye Clinic at the Kennedy Center; 🇩🇰 Glostrup, Copenhagen, Denmark

STZ Eyetrial at the Department of Ophthalmology - University of Tübingen; 🇩🇪 Tübingen, Germany

Rotterdam Ophthalmic Institute; 🇳🇱 Rotterdam, Netherlands

Jules Gonin Eye Hospital - Oculogenetic Unit; 🇨🇭 Lausanne, Switzerland

Moorfields Eye Hospital - Research and Treatment Centre; 🇬🇧 London, United Kingdom