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

Overview

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.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Retrospective
  • Study Primary Completion Date: December 31, 2020

Clinical Trial Outcome Measures

Primary Measures

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

Secondary Measures

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

Participating in This Clinical Trial

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).

Gender Eligibility: All

Minimum Age: 3 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • University of Campania “Luigi Vanvitelli”
  • Collaborator
    • Retina Italia Onlus
  • Provider of Information About this Clinical Study
    • Principal Investigator: Francesca Simonelli, Prof – University of Campania “Luigi Vanvitelli”
  • Overall Contact(s)
    • Francesca Simonelli, MD, +390817704501, francesca.simonelli@unicampania.it

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