Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models

CompletedOBSERVATIONAL
Enrollment

120

Participants

Timeline

Start Date

November 15, 2022

Primary Completion Date

November 2, 2024

Study Completion Date

November 2, 2024

Conditions
Inherited Retinal DystrophyRetinitis PigmentosaMacular Dystrophy
Interventions
DIAGNOSTIC_TEST

whole genome sequencing

Whole genome sequencing will be performed in patients whose test was negative for the targeted resequencing and/or clinical exome sequencing.

Trial Locations (1)

00161

Istituto Superiore di Sanità-Dpt. Oncology and Molecular Medicine, Rome

All Listed Sponsors
collaborator

Fondazione G.B. Bietti, IRCCS

OTHER

collaborator

Ospedale Pediatrico Bambin Gesù

OTHER

lead

Istituto Superiore di Sanità

OTHER