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)

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.

Study Overview

• Status: Completed
• Conditions: Leber Congenital Amaurosis (LCA); Retinitis Pigmentosa (RP)
• Intervention / Treatment: Other: No treatment: retrospective chart review

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 Type: Observational
• Enrollment (Actual): 59

Contacts and Locations

Study Locations

• Canada
  • Ontario
    • Toronto, Ontario, Canada, M5G 1X8
      • The Hospital for Sick Children, Ophthalmology and Vision Sciences
  • Quebec
    • Montreal, Quebec, Canada, H4A 3J1
      • Montreal Children's hospital, Mcgill University Health Centre
• Denmark
  • Copenhagen
    • Glostrup, Copenhagen, Denmark
      • Glostrup Hospital and National Eye Clinic at the Kennedy Center
• Germany
  • Tübingen, Germany, 72076
    • STZ Eyetrial at the Department of Ophthalmology - University of Tübingen
• Netherlands
  • Rotterdam, Netherlands, 3011 BH
    • Rotterdam Ophthalmic Institute
• Switzerland
  • Lausanne, Switzerland, CH-1004
    • Jules Gonin Eye Hospital - Oculogenetic Unit
• United Kingdom
  • London, United Kingdom, EC1V 2PD
    • Moorfields Eye Hospital - Research and Treatment Centre
• United States
  • Maryland
    • Baltimore, Maryland, United States, 21287
      • Wilmer Eye Institute - Johns Hopkins Hospital
  • Oregon
    • Portland, Oregon, United States, 97239-4197
      • Casey Eye Institute - Marquam Hill

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 8 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Subjects with IRD phenotypically diagnosed as LCA or RP caused by autosomal recessive mutation in RPE65 or LRAT.

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Subjects with IRD; IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations.	Other: No treatment: retrospective chart review

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
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

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

Other Outcome Measures

Outcome Measure	Time Frame
Optical coherence tomography, if available	Previous assessments performed when subject was between the ages of 6 and 65 years
Electroretinogram, if available	Previous assessments performed when subject was between the ages of 6 and 65 years

Collaborators and Investigators

• Sponsor: QLT Inc.
• Investigators: Study Director: David Saperstein, MD, QLT Inc.

Study record dates

Study Major Dates

• Study Start: December 1, 2015
• Primary Completion (Actual): March 1, 2016
• Study Completion (Actual): March 1, 2016

Study Registration Dates

• First Submitted: October 9, 2015
• First Submitted That Met QC Criteria: October 9, 2015
• First Posted (Estimate): October 14, 2015

Study Record Updates

• Last Update Posted (Estimate): April 29, 2016
• Last Update Submitted That Met QC Criteria: April 28, 2016
• Last Verified: April 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Eye Diseases; Neurologic Manifestations; Retinal Degeneration; Genetic Diseases, Inborn; Eye Diseases, Hereditary; Retinal Dystrophies; Sensation Disorders; Vision Disorders; Retinal Diseases; Retinitis; Retinitis Pigmentosa; Blindness; Leber Congenital Amaurosis
• Other Study ID Numbers: RET NAT 01