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

NCT05793515 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 120

Last updated 2025-04-18

No results posted yet for this study

Summary

Inherited retinal dystrophies (IRDs), a large group of heterogeneous and rare disorders, may result in irreversible bilateral visual loss and blindness. Characterizing the genetic bases of IRDs will help to understand the pathogenesis underlying the development of retinal damage. Despite the advances in molecular identification of genes causing disease, unsolved IRDs constitute about 40% of all cases.

Goal of this study is to solve missing heritability in IRD using whole genome sequencing (WGS) to identify the genetic causes in clinically well-characterized patients without a molecular diagnosis.

The identification of novel genes that have a role in the development or maintenance of retinal function will lead to the development of new therapeutic approaches and will favour a more prompt diagnosis and improvement of patient management.

Conditions

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.

Sponsors & Collaborators

  • Fondazione G.B. Bietti, IRCCS

    collaborator OTHER

  • Ospedale Pediatrico Bambin Gesù

    collaborator OTHER

  • Istituto Superiore di Sanità

    lead OTHER

Principal Investigators

  • Viviana Cordeddu, PhD · Istituto Superiore di Sanità

Eligibility

Min Age
5 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-11-15
Primary Completion
2024-11-02
Completion
2024-11-02

Countries

  • Italy

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05793515 on ClinicalTrials.gov