Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene

Study Overview
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Brief Summary
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Rationale: In preparation for treatment with gene therapy, this study is being conducted in order to investigate the natural history of Inherited Retinal Dystrophies (IRDs) due to mutations in RPE65 gene. Such a study will help identify suitable patients for therapeutic intervention. Methodology: This is a multicenter retrospective, descriptive chart review study designed to assess retinal structure and function in subjects with IRDs due to mutation in RPE65 gene by visual acuity, visual field measurements, Optical Coherence Tomography (OCT), and a number of other vision-related assessments.

Official Title
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Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene

Conditions
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Leber Congenital Amaurosis 2, Retinitis Pigmentosa 20

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Must be willing to adhere to protocol as evidenced by written informed consent or parental permission and subject assent. Subjects diagnosed with Retinitis Pigmentosa or Leber Congenital Amaurosis. Molecular diagnosis showing mutations (homozygotes or compound heterozygotes) in RPE65 gene. Age three years old or older. Minimum of two office / clinic visits encounters with ophthalmic assessment that span a follow-up period of at least 1 year with the last visit occurring within the last six months (before signature of informed consent and of study start). Exclusion Criteria: Unable or unwilling to meet requirements of the study. Participation in a clinical study with an investigational drug during the retrospective study time period (i.e., from 01/01/1990 to study start date).

Ages Eligible for Study
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Minimum Age: 3 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| best correct visual acuity | average annual progression rate of best correct visual acuity over the retrospective follow-up period | at least one year | 
| visual field | average annual progression rate of visual field over the retrospective follow-up period | at least one year | 
| optical coherence tomography | average annual progression rate of central retinal thickness over the retrospective follow-up period | at least one year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| microperimetry | average annual progression rate of macular sensitivity assessed by microperimetry over the retrospective follow-up period | at least one year | 
| fundus autofluorescence | change in fundus autofluorescence over the retrospective follow-up period | at least one year | 
| Full-field Electroretinogram | average annual progression rate of full-field electroretinogram responses over the retrospective follow-up period | at least one year | 
| Multifocal Electroretinogram | average annual progression rate of multifocal electroretinogram responses over the retrospective follow-up period | at least one year | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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RPE65-related inherited retinal dystrophies, natural history study