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Solving Challenging Diagnoses Through Ultra-long Read Sequencing

NCT06775613 · Status: ACTIVE_NOT_RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 15

Last updated 2026-01-09

No results posted yet for this study

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

Interventions

GENETIC

Long-read sequencing

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

Sponsors & Collaborators

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna

    lead OTHER

Principal Investigators

  • Pamela Magini, Biologist · IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di Sant'Orsola

Study Design

Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
28 Days
Max Age
65 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-03-10
Primary Completion
2024-03-20
Completion
2025-12-31

Countries

  • Italy

Study Locations

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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 NCT06775613 on ClinicalTrials.gov