Trials / NCT04525261
Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene
Completed Observational Natural history / observational
- Sponsor
- University of Campania Luigi Vanvitelli
- Treatment
- Not listed
- Gene
- RPE65
- Conditions
- Leber Congenital Amaurosis 2, Retinitis Pigmentosa 20
- Ages
- 3 Years to no upper limit
- Enrollment
- 60 participants
- Started
- 2020-05-01
- Main results expected
- 2020-07-31
- Results posted
- Not yet
- Record last updated
- 2023-11-29
What the study is testing
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.
Where it runs
Italy (9)
- Ospedale di Camposampiero, ULSS6 Euganea, Camposampiero, Camposampiero
- UOC Oculistica - AOU Careggi, Florence
- UOC Oculistica - Ospedale Sacco, Milan
- UOC Oculistica - Ospedale San Paolo, Milan
- UOC Oculistica - AOU Università degli Studi della Campania Luigi Vanvitelli, Naples
- Centro di Neuroftalmologia dell'età evolutiva - IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino, Pavia
- UOC Oculistica - Fondazione IRCCS Policlinico San Matteo, Pavia
- UOC Oculistica - Ospedale Bambin Gesù di Roma, Rome
- UOC Oculistica - Policlinico Gemelli di Roma, Rome