Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Cure My Disease

Don't miss your cure!

 Log in / Sign up

Skin biopsies could unlock hidden genetic diagnoses

NCT ID NCT05996731

Knowledge-focused Sponsor: Mario Negri Institute for Pharmacological Research Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
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
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study aims to improve diagnosis for people with rare genetic diseases whose standard genetic tests came back negative. Researchers will take a small skin sample and analyze RNA to find hidden genetic changes. The study involves 105 participants, including healthy volunteers and patients with known or suspected rare diseases.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this could improve diagnosis for people with rare genetic diseases who currently have no answers from standard genetic tests.
What could go wrong
This is an early-stage observational study, not a treatment trial. It may not lead to a new diagnostic tool, and results may not apply to all rare diseases.

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

About 105 people

The number the study aims to enrol. It can still change while the study runs.

Started

Feb 2024

Expected to finish

Jun 2026

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

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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.

Healthy subjects. Inclusion Criteria: * Male and female adults * Written informed consent Exclusion Criteria: * Inability to understand the potential risk and benefits of the study * Legal incapacity Validation cohort. Inclusion criteria: * Male and female adults * Genetic diseases affecting RNA levels (frameshifts, stop, large deletions, alteration of canonical splicing sites) * Written informed consent Exclusion criteria: * Underage patients * Inability to understand the potential risk and benefits of the study * Legal incapacity Discovery cohort. Inclusion criteria: * Male and female patients (children and adults with onset in infancy or early adulthood) with rare genetic undiagnosed diseases * Patients with no strong candidates based on previous genetic analysis such as WES, but with clinically suspicion of a genetic rare disease * Written informed consent Exclusion criteria: * Inability to understand the potential risk and benefits of the study * Legal incapacity

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for Atypical hemolytic uremic syndrome are added.

Vår säkerhetsrekommendation!

Genom att skicka in godkänner du våra Användarvillkor

Conditions

The condition(s) this trial relates to.

atypical hemolytic-uremic syndrome autosomal dominant polycystic kidney disease membranoproliferative glomerulonephritis

As listed by the trial registrant

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

Atypical hemolytic uremic syndrome Autosomal dominant polycystic kidney Healthy Membranoproliferative glomerulonephritis

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Centro di Ricerche Cliniche per le Malattie Rare "Aldo e Cele Daccò"

    RECRUITING

    Ranica, BG, 24020, Italy

More trials for these conditions

Other studies related to the condition(s) this trial covers.