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

Study Overview
=================
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.

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)

Conditions
-----------------
Leber Congenital Amaurosis (LCA), Retinitis Pigmentosa (RP)

Intervention / Treatment
-----------------
* Other: No treatment: retrospective chart review


Participation Criteria
=================
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).

Ages Eligible for Study
-----------------
Minimum Age: 8 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Subjects with IRD<br>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<br> <br> |

What is the study measuring?
-----------------
Primary Outcome Measures

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