Using long-read sequencing to diagnose rare genetic diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study utilizes long-read sequencing (LRS) technology to provide molecular diagnoses for patients with rare genetic diseases who have previously received ambiguous or negative results from standard genetic testing. By focusing on the detection of complex structural genomic variants, the study aims to improve the understanding of disease mechanisms and enhance the accuracy of genetic diagnoses. The approach includes analyzing DNA/RNA sequencing data and employing bioinformatics for precise interpretation of genetic information. The goal is to increase diagnostic yield and inform targeted treatment strategies for affected individuals.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* patients/relatives of patients with Copy Number Variations (CNVs), previously detected by aCGH, with uncertain clinical significance;
* patients/relatives of patients with inconclusive WES and aCGH data (no pathogenic/likely pathogenic variant);
* patients/relatives of patients with a known single hit (a pathogenic or likely pathogenic variant) in an AR gene detected with WES or aCGH;
* patients/relatives of patients with a finding of complex structural variants whose molecular disease mechanism is to be elucidated.

Exclusion Criteria:

* none

Where it's running

• IRCCS Azienda Ospedaliero-Universitaria di Bologna
  Bologna, Bologna, Italy Recruiting

Study contacts

• Principal investigator: Tommaso Pippucci, Biologist — IRCCS Azienda Ospedaliero-Universitaria di Bologna
• Study coordinator: Tommaso Pippucci, Biologist
• Email: tommaso.pippucci@aosp.bo.it
• Phone: 0512142892

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• AI-assisted Rare-Disease Diagnosis

  A multicenter randomized test to see if an AI diagnostic tool can help doctors make faster, more accurate rare-disease diagnoses for patients with unresolved symptoms.

  Recruiting at 3 sites Peking Union Medical College Hospital · Cangzhou and 11 other locations · NCT07650799

• Socio‑professional inclusion for young people (15–25) with childhood-onset rare genetic disabilities

  This project will try to see what makes it hard for 15–25‑year‑olds with childhood-onset rare genetic conditions to access higher education, internships, or work.

  Recruiting Imagine Institute · Paris, Île-de-France Region · NCT07527624

• Treatment approaches for AChR-antibody positive generalized myasthenia gravis in Russia.

  This project will look at which treatments adults in Russia with AChR-antibody positive generalized myasthenia gravis receive and how their symptoms and hospitalizations change over time.

  Recruiting at 7 sites AstraZeneca · Kazan' and 6 other locations · NCT07247279

• Long-term outcomes for people with immune TTP in the French national TMA cohort

  This project uses past medical records to see long-term health outcomes and complications in people in France who had immune thrombotic thrombocytopenic purpura (iTTP).

  Recruiting Assistance Publique - Hôpitaux de Paris · Paris · NCT07205861

• Rapid genetic testing and virtual genetic consults for newborns with unexplained birth defects in Texas

  This project will test rapid whole genome sequencing and virtual genetic consultations for seriously ill newborns in Texas to find genetic causes of birth defects.

  Recruiting Baylor College of Medicine · Houston, Texas · NCT07102966

• Identification of Cellular Biomarkers in Rare Eye Diseases

  This study tests whether specific gene and protein markers in cells and tears can distinguish adults with rare corneal diseases from others and relate to their eye symptoms.

  Recruiting Institut National de la Santé Et de la Recherche Médicale, France · Paris and 1 other locations · NCT07063719

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.