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

Leber Congenital Amaurosis 2 Clinical Trial

— RPE65-NHS  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04525261
• Other study ID #: RPE65-NHS
• Status: Completed
• Start date: May 1, 2020
• Est. completion date: July 31, 2020

Study information

• Verified date: November 2023
• Source: University of Campania "Luigi Vanvitelli"
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 60
• Est. completion date: July 31, 2020
• Est. primary completion date: July 31, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: 3 Years and older

Eligibility

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).

Related Conditions & MeSH terms

• Blindness
• Leber Congenital Amaurosis
• Leber Congenital Amaurosis 2
• Retinal Diseases
• Retinitis
• Retinitis Pigmentosa
• Retinitis Pigmentosa 20

Locations

Country	Name	City	State
Italy	Ospedale di Camposampiero, ULSS6 Euganea, Camposampiero	Camposampiero
Italy	UOC Oculistica - AOU Careggi	Florence
Italy	UOC Oculistica - Ospedale Sacco	Milan
Italy	UOC Oculistica - Ospedale San Paolo	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

Sponsors (2)

Lead Sponsor	Collaborator
University of Campania "Luigi Vanvitelli"	Retina Italia Onlus

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	best correct visual acuity	average annual progression rate of best correct visual acuity over the retrospective follow-up period	at least one year
Primary	visual field	average annual progression rate of visual field over the retrospective follow-up period	at least one year
Primary	optical coherence tomography	average annual progression rate of central retinal thickness over the retrospective follow-up period	at least one year
Secondary	microperimetry	average annual progression rate of macular sensitivity assessed by microperimetry over the retrospective follow-up period	at least one year
Secondary	fundus autofluorescence	change in fundus autofluorescence over the retrospective follow-up period	at least one year
Secondary	Full-field Electroretinogram	average annual progression rate of full-field electroretinogram responses over the retrospective follow-up period	at least one year
Secondary	Multifocal Electroretinogram	average annual progression rate of multifocal electroretinogram responses over the retrospective follow-up period	at least one year