NCT Number: NCT02575430
Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or 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.
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Notify MeKey information
Conditions
Age range
8 year and older
Sex eligibility
All sexes
Study type
Observational
Primary location
The Hospital for Sick Children, Ophthalmology and Vision Sciences, Toronto, Ontario, Canada
About this study
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.
Who can participate
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
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).
Treatment and study plan
Primary outcomes
-
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 outcomes
-
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 outcomes
-
Optical coherence tomography, if available
Time frame: Previous assessments performed when subject was between the ages of 6 and 65 years
-
Electroretinogram, if available
Time frame: Previous assessments performed when subject was between the ages of 6 and 65 years
Sponsors and collaborators
Lead sponsor
QLT Inc.
Industry
Registry information
Official study 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)
Important dates
- Study start
- 2015
- Primary completion
- 2016
- Study completion
- 2016
- First posted
- Oct 14, 2015
- Registry last updated
- Apr 29, 2016
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
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