Clinical trial NCT02575430: Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT
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 type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Leber Congenital Amaurosis (LCA)
Retinitis Pigmentosa (RP)
Lead sponsor: QLT Inc.
Sponsor class: INDUSTRY
First posted: 2015-10-14
Enrollment: 59
Sex: ALL
Minimum age (years): 8
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Time perspective: RETROSPECTIVE
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.

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.

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).

Primary outcomes:
measure: Visual field
timeFrame: Change in visual field over time. Previous assessments performed when subject was between the ages of 6 and 65 years
Secondary outcomes:
measure: Visual acuity
timeFrame: Change in visual acuity over time. Previous assessments performed when subject was between the ages of 6 and 65 years
Other outcomes:
measure: Optical coherence tomography, if available
timeFrame: Previous assessments performed when subject was between the ages of 6 and 65 years
measure: Electroretinogram, if available
timeFrame: Previous assessments performed when subject was between the ages of 6 and 65 years
Locations:
city: Baltimore
country: United States
facility: Wilmer Eye Institute - Johns Hopkins Hospital
state: Maryland
city: Portland
country: United States
facility: Casey Eye Institute - Marquam Hill
state: Oregon
city: Toronto
country: Canada
facility: The Hospital for Sick Children, Ophthalmology and Vision Sciences
state: Ontario
city: Montreal
country: Canada
facility: Montreal Children's Hospital, McGill University Health Centre
state: Quebec
city: Glostrup
country: Denmark
facility: Glostrup Hospital and National Eye Clinic at the Kennedy Center
state: Copenhagen
city: Tübingen
country: Germany
facility: STZ Eyetrial at the Department of Ophthalmology - University of Tübingen
city: Rotterdam
country: Netherlands
facility: Rotterdam Ophthalmic Institute
city: Lausanne
country: Switzerland
facility: Jules Gonin Eye Hospital - Oculogenetic Unit
city: London
country: United Kingdom
facility: Moorfields Eye Hospital - Research and Treatment Centre
Study officials:
affiliation: QLT Inc.
name: David Saperstein, MD
role: STUDY_DIRECTOR
References: