Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene
NCT ID: NCT04525261
Last Updated: 2023-11-29
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
60 participants
OBSERVATIONAL
2020-05-01
2020-07-31
Brief Summary
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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
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Conditions
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Study Design
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CASE_ONLY
RETROSPECTIVE
Eligibility Criteria
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Inclusion Criteria
* 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
* 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).
3 Years
ALL
No
Sponsors
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Retina Italia Onlus
UNKNOWN
University of Campania Luigi Vanvitelli
OTHER
Responsible Party
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Francesca Simonelli
Prof
Locations
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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, , Italy
Countries
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Other Identifiers
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RPE65-NHS
Identifier Type: -
Identifier Source: org_study_id