Ireland
--:--IST
Latest
Astellas Expands Its 330 Million Euro Tralee Biopharma Facility with a Second Aseptic Filling Line to Double Drug-Product Capacity Xeolas Pharmaceuticals Opens 158,000 Sq Ft State-of-the-Art Baldoyle Facility to Scale Specialty Medicine Manufacturing Priya Life Science Partners with Fleming for the 9th Annual Corporate Compliance & Transparency in Life Sciences Summit in Zurich Ireland Has the Capital and the Lessons: Digital Project Management Is How They Become Delivery Dunbar Pharma Brings First Plant-Derived Dronabinol API to UK Market Through IPS Pharma Leveraging Priya Life Science as a Data Tracker: The Ultimate Use Case & Career Guide Astellas Expands Its 330 Million Euro Tralee Biopharma Facility with a Second Aseptic Filling Line to Double Drug-Product Capacity Xeolas Pharmaceuticals Opens 158,000 Sq Ft State-of-the-Art Baldoyle Facility to Scale Specialty Medicine Manufacturing Priya Life Science Partners with Fleming for the 9th Annual Corporate Compliance & Transparency in Life Sciences Summit in Zurich Ireland Has the Capital and the Lessons: Digital Project Management Is How They Become Delivery Dunbar Pharma Brings First Plant-Derived Dronabinol API to UK Market Through IPS Pharma Leveraging Priya Life Science as a Data Tracker: The Ultimate Use Case & Career Guide
Clinical Trials in Italy / NCT06775613
Active, not recruiting Not applicable

Solving Challenging Diagnoses Through Ultra-long Read Sequencing

NCT06775613 · tracked via the Priya Life Science Italy tracker
Sponsor
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Phase
Not applicable
Started
2023-03-10
Last updated
2026-01-09

Condition(s) studied

Variant Nucleotide

Investigational drug(s) / intervention(s)

Long-read sequencing

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

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)

Eligibility

Sex
ALL
Min age
28 Days
Max age
65 Years
Healthy volunteers
No
Inclusion criteria * 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. Exclusion criteria \- None

Primary outcome measure(s)

  • Genetic anomalies — 24 months
    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.

Trial sites (1)

FacilityCityRegionStatus
IRCCS Azienda Ospedaliero-Universitaria di Bologna Bologna Bologna

More IRCCS Azienda Ospedaliero-Universitaria di Bologna trials in Italy

Radiological Diagnostics in Patients With Deep Endometriosis Recruiting
Antimicrobial Combination Therapy for Treatment of Enterococcus Faecalis Bacteremia Recruiting
An Italian Multicentric Retrospective Observational Study to Assess Effectiveness and Safety of the Combination of Tafasitamab and Lenalidomide in Diffuse Large B-cell Lymphoma Patients Treated Under Named Patient Program Recruiting
Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients Recruiting
Multi-Dimensional Genomic Dissection of Ring Chromosome 14 Syndrome Active, not recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06775613 on ClinicalTrials.gov ↗ ← All trials in Italy