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

Completed

• Conditions: Leber Congenital Amaurosis 2; Retinitis Pigmentosa 20

• Registration Number: NCT04525261
• Lead Sponsor: University of Campania "Luigi Vanvitelli"

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2020-05-01
• Primary Completion: 2020-07-31
• Study Completion: 2020-07-31
• Study First Submitted: 2020-07-31
• Study First Submitted QC: 2020-08-22
• Study First Posted: 2020-08-25
• Status Verified: 2023-11
• Last Update Submitted: 2023-11-28
• Last Update Posted: 2023-11-29

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 60

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).

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

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

Secondary Outcome Measures

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

Trial Locations

Locations (9)

UOC Oculistica - Ospedale San Paolo; 🇮🇹 Milan, Italy

UOC Oculistica - AOU Careggi; 🇮🇹 Florence, Italy

Ospedale di Camposampiero, ULSS6 Euganea, Camposampiero; 🇮🇹 Camposampiero, Italy

UOC Oculistica - Ospedale Sacco; 🇮🇹 Milan, Italy

UOC Oculistica - AOU Università degli Studi della Campania Luigi Vanvitelli; 🇮🇹 Naples, Italy

Centro di Neuroftalmologia dell'età evolutiva - IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino; 🇮🇹 Pavia, Italy

UOC Oculistica - Fondazione IRCCS Policlinico San Matteo; 🇮🇹 Pavia, Italy

UOC Oculistica - Ospedale Bambin Gesù di Roma; 🇮🇹 Rome, Italy

UOC Oculistica - Policlinico Gemelli di Roma; 🇮🇹 Rome, Italy