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

NCT ID: NCT02575430

Last Updated: 2016-04-29

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 59 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2015-12-31
• Study Completion Date: 2016-03-31

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.

Conditions

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

Study Design

• Study Time Perspective: RETROSPECTIVE

Study Groups

Subjects with IRD

IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations.

No treatment: retrospective chart review

Intervention Type: OTHER

Interventions

No treatment: retrospective chart review

Intervention Type: OTHER

Eligibility Criteria

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).

• Minimum Eligible Age: 8 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

QLT Inc.

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

David Saperstein, MD

Role: STUDY_DIRECTOR

QLT Inc.

Locations

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 Municipality, 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

Countries

United States; Canada; Denmark; Germany; Netherlands; Switzerland; United Kingdom

Other Identifiers

RET NAT 01

Identifier Type: -

Identifier Source: org_study_id