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

Launched by IRCCS AZIENDA OSPEDALIERO-UNIVERSITARIA DI BOLOGNA · Jan 22, 2025

Keywords

ClinConnect Summary

The PREcision Diagnostics trial is exploring a new testing method called long-read sequencing (LRS) to help diagnose rare genetic diseases. This study aims to find answers for patients who have already undergone traditional genetic testing but still have unclear or negative results. By using LRS, researchers hope to identify hidden genetic changes that can cause these complex conditions. In some cases, they will also combine LRS with other advanced techniques to better understand particularly difficult cases where the cause of a patient’s symptoms is still unknown.

If you or a family member have a rare genetic condition and have had inconclusive test results that showed uncertain or unclear genetic findings, you may be eligible to participate. The trial is open to individuals of all ages and genders. Participants can expect to undergo advanced genetic testing that aims to provide clearer answers about their condition. This could lead to more accurate diagnoses and better understanding of rare diseases, which may help in future treatments. Importantly, there are no specific exclusions for this trial, making it accessible to a wide range of patients with complex genetic issues.

Gender

ALL

Eligibility criteria

• 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