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Rare gene mutations under the microscope: new study seeks clues in families

NCT ID NCT07374913

Knowledge-focused Sponsor: Meyer Children's Hospital IRCCS 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 27, 2026 · Last updated Jun 27, 2026

Summary

This study looks at people with rare changes in the COL4A1 or COL4A2 genes, which can cause bleeding in the brain and problems in other organs. Researchers will collect health information and blood samples from 120 people, including family members with and without the gene change. The goal is to learn how these mutations affect the body and find early signs of disease, but no new treatment is being tested.

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 120 people

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

Started

May 2021

Expected to finish

Dec 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

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: * Individuals (pediatric or adult) with a pathogenic or likely pathogenic mutation in the COL4A1 or COL4A2 genes and a clinical phenotype consistent with small vessel disease. * Adult first-degree family members (parents, siblings, or children) who are confirmed carriers or suspected carriers of the same COL4A1/COL4A2 mutation. * Adult first-degree family members who are non-carriers of the pathogenic mutation and who agree to provide a blood sample to be used as controls for laboratory analyses. * Ability to provide written informed consent; for minors, consent provided by a parent or legal guardian. Exclusion Criteria: * Refusal or inability to provide informed consent. * Individuals who do not meet the inclusion criteria above. * Any condition that, in the opinion of the investigators, would preclude participation in study procedures or reliable data collection.

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Conditions

The condition(s) this trial relates to.

brain small vessel disease 1 with or without ocular anomalies COL4A1/A2-related disorder

As listed by the trial registrant

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

COL4A1-related brain small vessel disease with haemorrhage COL4A1\2

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

  • Meyer Children's Hospital IRCSS

    RECRUITING

    Florence, FI, 50139, Italy

More trials for these conditions

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