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

Recruitingn/aAges 28 Days - anyAllIRCCS Azienda Ospedaliero-Universitaria di Bologna
NCT06796751 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

Using long-read sequencing (LRS) technology to achieve molecular diagnosis in patients with rare genetic diseases who have already been tested by state-of-the-art genetic analysis with ambiguous or negative results. This will lead to efficient and reliable identification and clinical interpretation of cryptic and complex structural genomic variants, which represent the central challenge for the coming decades in human genetics.

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📋 Eligibility rules (as published)
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
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What it tests

  • DNA/RNA sequencing and bioinformatic data analysis
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Where

1 site
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Italy
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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