New DNA reader cracks tough genetic mysteries

NCT ID NCT06775613

First seen Jun 27, 2026 ยท Last updated Jun 27, 2026

Summary

This study tests a new DNA-reading technology called ultra-long read sequencing to find hidden genetic changes that standard tests miss. Researchers will analyze blood samples from 15 patients with known or suspected genetic variants in difficult-to-read DNA regions. The goal is to see if this method can provide clearer, faster diagnoses for conditions linked to repeated DNA segments or large structural changes.

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Conditions

The condition(s) this trial relates to.

autosomal dominant polycystic kidney disease classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna

    Bologna, Bologna, 40138, Italy