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New DNA reader cracks tough genetic mysteries

NCT ID NCT06775613

Diagnosis Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · 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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

15 people

The number who actually took part.

Started

Mar 2023

Expected to finish

Dec 2025

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

28 days to 65 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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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.

Variant nucleotide

Contacts and locations

Locations

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna

    Bologna, Bologna, 40138, Italy

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