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PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing

NCT06796751 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2025-01-31

No results posted yet for this study

Summary

Using long-read sequencing (LRS) technology to achieve molecular diagnosis in patients with rare genetic diseases who have already been tested by state-of-the-art genetic analysis with ambiguous or negative results. This will lead to efficient and reliable identification and clinical interpretation of cryptic and complex structural genomic variants, which represent the central challenge for the coming decades in human genetics.

Conditions

Interventions

GENETIC

DNA/RNA sequencing and bioinformatic data analysis

DNA will be extracted from peripheral blood or from somatic tissues. In some cases a skin biopsy will be performed to obtain fibroblasts for further analysis (DNA/RNA extraction and preparation of cell culture for high-throughput genomic and epigenomic technique (Hi-C). LRS will be performed on extracted DNA using Oxford Nanopore Technology by two different approaches: * Target, in samples with monoallelic alterations in genes related to autosomal recessive disease; * Genomic in other cases. Sequencing data will be analyzed through a dedicated bioinformatics pipeline, to reconstruct the tridimensional structure of chromatin and the regions

Sponsors & Collaborators

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna

    lead OTHER

Principal Investigators

  • Tommaso Pippucci, Biologist · IRCCS Azienda Ospedaliero-Universitaria di Bologna

Eligibility

Min Age
28 Days
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-10-01
Primary Completion
2026-09-30
Completion
2026-09-30

Countries

  • Italy

Study Locations

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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 NCT06796751 on ClinicalTrials.gov