Solving Challenging Diagnoses Through Ultra-long Read Sequencing

NCT06775613 | Active Not Recruiting

• 2 other identifiers: SCHeDULeRSHorizon 2020
• Study Type: interventional
• Target: 15
• Locations: 1 country
• Sites: 1

Brief Summary

If the study is able to demonstrate that the LRS concretely overcomes the technical limitations of diagnostic methods routinely used in laboratories, its clinical application may make possible a more accurate analysis of repeated genomic regions and offer greater sensitivity for identifying SVs (Structural Variants)

Conditions

Variant Nucleotide

Outcome Measures

Primary Outcomes (1)

• Genetic anomalies

  To determine the sensitivity of the LRS in detectiong genetic variants in hard-to-analyze genomic regions and to enables precise mapping of unbalanced genomic alterations identified by routine diagnostic techniques.

  24 months

Secondary Outcomes (1)

• Mapping the breaking points of CNVs

  24 months

Study Arms (2)

Target

EXPERIMENTAL

Sequencing in samples with alterations in the PKD1 or CYP21A2 genes or with deletions identified by aCGH, LRS will be limited to the genes/loci of of interest.

Genetic: Long-read sequencing

Genomics

EXPERIMENTAL

The entire genome will be analysed in samples with duplications in order to precisely identify the genomic regions in which the duplicated portions have inserted

Genetic: Long-read sequencing

Interventions

Long-read sequencing GENETIC

The technology performed belongs to third-generation sequencing strategies and is capable of analysing very long DNA and RNA fragments.

Genomics; Target

Eligibility Criteria

• Age: 28 Days - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients with pathogenic alterations in the PKD1 gene, aged between 30 and 70 years
• Patients with pathogenic alterations in the CYP21A2 gene or with a not clearly defined genotype, aged between one month and 50 years
• Patients carrying potentially pathogenic CNVs (e.g. new onset and/or in proximity of disease-associated genes), aged between one month up to 70 years
• Availability of a suitable blood sample at the IRCCS Medical Genetics Unit AOUBO
• Acquisition of informed consent.

You may not qualify if:

• \- None

Sponsors & Collaborators

• IRCCS Azienda Ospedaliero-Universitaria di Bologna: lead

Study Sites (1)

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, Bologna, 40138, Italy

Location

Study Officials

• Pamela Magini, Biologist

  IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di Sant'Orsola

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 28, 2024
• First Posted: January 15, 2025
• Study Start: March 10, 2023
• Primary Completion: March 20, 2024
• Study Completion: December 31, 2025
• Last Updated: January 9, 2026

Record last verified: 2025-01

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)