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

• ClinicalTrials.gov Identifier: NCT02575430
• Recruitment Status: Completed
• First Posted: October 14, 2015
• Last Update Posted: April 29, 2016
• Sponsor: QLT Inc.
• Information provided by (Responsible Party): QLT Inc.

Study Description

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.

Condition or disease	Intervention/treatment
Leber Congenital Amaurosis (LCA); Retinitis Pigmentosa (RP)	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 Design

• Study Type: Observational
• Actual Enrollment: 59 participants
• Time Perspective: Retrospective
• Official Title: 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)
• Study Start Date: December 2015
• Actual Primary Completion Date: March 2016
• Actual Study Completion Date: March 2016

Groups and Cohorts

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

Outcome Measures

Primary Outcome Measures :

1. Visual field [ Time Frame: Change in visual field over time. Previous assessments performed when subject was between the ages of 6 and 65 years ]

Secondary Outcome Measures :

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

Other Outcome Measures:

1. Optical coherence tomography, if available [ Time Frame: Previous assessments performed when subject was between the ages of 6 and 65 years ]
2. Electroretinogram, if available [ Time Frame: Previous assessments performed when subject was between the ages of 6 and 65 years ]

Eligibility Criteria

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

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).

Contacts and Locations

Locations

United States, Maryland

Wilmer Eye Institute - Johns Hopkins Hospital

Baltimore, Maryland, United States, 21287

United States, Oregon

Casey Eye Institute - Marquam Hill

Portland, Oregon, United States, 97239-4197

Canada, Ontario

The Hospital for Sick Children, Ophthalmology and Vision Sciences

Toronto, Ontario, Canada, M5G 1X8

Canada, Quebec

Montreal Children's Hospital, McGill University Health Centre

Montreal, Quebec, Canada, H4A 3J1

Denmark

Glostrup Hospital and National Eye Clinic at the Kennedy Center

Glostrup, Copenhagen, Denmark

Germany

STZ Eyetrial at the Department of Ophthalmology - University of Tübingen

Tübingen, Germany, 72076

Netherlands

Rotterdam Ophthalmic Institute

Rotterdam, Netherlands, 3011 BH

Switzerland

Jules Gonin Eye Hospital - Oculogenetic Unit

Lausanne, Switzerland, CH-1004

United Kingdom

Moorfields Eye Hospital - Research and Treatment Centre

London, United Kingdom, EC1V 2PD

Sponsors and Collaborators

QLT Inc.

Investigators

• Study Director: David Saperstein, MD; QLT Inc.

More Information

• Responsible Party: QLT Inc.
• ClinicalTrials.gov Identifier: NCT02575430
• Other Study ID Numbers: RET NAT 01
• First Posted: October 14, 2015
• Last Update Posted: April 29, 2016
• Last Verified: April 2016

Additional relevant MeSH terms:

Blindness; Retinitis; Retinitis Pigmentosa; Retinal Diseases; Leber Congenital Amaurosis; Eye Diseases; Eye Diseases, Hereditary; Retinal Dystrophies; Retinal Degeneration; Genetic Diseases, Inborn; Vision Disorders; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases