NCT05793515Completed
Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
"Understanding Genetic Missing Variability and Pathogenetic Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models"
Source: ClinicalTrials.gov · Last updated 18 Apr 2025
Brief summary (registry, in English)
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.
- Status (registry)
- Completed
- Study type
- Observational
- Enrollment
- 120 (actual)
- First submitted
- 20 Mar 2023
- Start date
- 15 Nov 2022
- Primary completion date
- 2 Nov 2024
- Lead sponsor
- Istituto Superiore di Sanità
- Diseases
- Retinitis pigmentosa
- NCT number
- NCT05793515
What you commit to
- Study type: Observational
- Participants enrolled: 120
- From 15 Nov 2022 to the primary completion date, 2 Nov 2024
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- Patients with a clinical diagnosis of no proven genetic origin.
- Patients whose parents' or second degree relatives' samples are not available.
- Patients who refuse to be informed of the genetic results obtained, including incidental clinically relevant, validated and actionable for the patient himself and/or his family.
Who the study is looking for
- Patients with retinal and optic nerve dystrophy of suspected hereditary nature.
- Probands with clinical follow-up of at least 12 months.
- Patients with an inconclusive molecular diagnosis by means of molecular-genetic tests for the genes known to date for the diagnosed pathology.
Age in the registry: 5 years to 80 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Save your city in your profile to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Istituto Superiore di Sanità-Dpt. Oncology and Molecular Medicine Coordinator of this site? Confirm its status | Rome | Italy | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.