Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene (RPE65-NHS)

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 Overview

• Status: Completed
• Conditions: Leber Congenital Amaurosis 2; Retinitis Pigmentosa 20

• Study Type: Observational
• Enrollment (Actual): 60

Contacts and Locations

Study Locations

• Italy
  • Camposampiero, Italy
    • Ospedale di Camposampiero, ULSS6 Euganea, Camposampiero
  • Florence, Italy
    • UOC Oculistica - AOU Careggi
  • Milan, Italy
    • UOC Oculistica - Ospedale Sacco
  • Milan, Italy
    • UOC Oculistica - Ospedale San Paolo
  • Naples, Italy
    • UOC Oculistica - AOU Università degli Studi della Campania Luigi Vanvitelli
  • Pavia, Italy
    • Centro di Neuroftalmologia dell'età evolutiva - IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino
  • Pavia, Italy
    • UOC Oculistica - Fondazione IRCCS Policlinico San Matteo
  • Rome, Italy
    • UOC Oculistica - Ospedale Bambin Gesù di Roma
  • Rome, Italy
    • UOC Oculistica - Policlinico Gemelli di Roma

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

It is expected that approximately 200 patients may be recruited into the study during the recruitment period.

Each subject must participate in the informed consent process and provide written informed consent/assent before any data could be collected.

Description

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 Plan

How is the study designed?

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: University of Campania "Luigi Vanvitelli"
• Collaborators: Retina Italia Onlus

Study record dates

Study Major Dates

• Study Start (Actual): May 1, 2020
• Primary Completion (Actual): July 31, 2020
• Study Completion (Actual): July 31, 2020

Study Registration Dates

• First Submitted: July 31, 2020
• First Submitted That Met QC Criteria: August 22, 2020
• First Posted (Actual): August 25, 2020

Study Record Updates

• Last Update Posted (Actual): November 29, 2023
• Last Update Submitted That Met QC Criteria: November 28, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Keywords: natural history study; RPE65-related inherited retinal dystrophies
• Additional Relevant MeSH Terms: Nervous System Diseases; Eye Diseases; Neurologic Manifestations; Retinal Degeneration; Genetic Diseases, Inborn; Eye Diseases, Hereditary; Retinal Dystrophies; Sensation Disorders; Vision Disorders; Retinal Diseases; Retinitis; Retinitis Pigmentosa; Blindness; Leber Congenital Amaurosis
• Other Study ID Numbers: RPE65-NHS

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No