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Rare nerve disease study could unlock secrets of brain aging

NCT ID NCT07156214

Knowledge-focused Sponsor: Catholic University of the Sacred Heart 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 26, 2026

Summary

This study is looking at 50 adults with a rare genetic nerve disorder called RFC1-ataxia or CANVAS, which causes problems with balance, coordination, and sensation. Researchers will take blood samples and skin biopsies over 12 months to measure markers of cell stress and damage. The goal is to better understand how the disease progresses and what it might teach us about more common brain diseases like Parkinson's and Alzheimer's.

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 study could identify biological markers that help track disease progression and reveal shared mechanisms with more common neurodegenerative diseases like Parkinson's or Alzheimer's.
What could go wrong
This is a small observational study (50 people) with no treatment being tested. It aims to gather knowledge, not to cure or treat the disease. Results may not apply to all patients.

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 50 people

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

Started

Oct 2024

Expected to finish

Jul 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

18 to 80 years

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.

Inclusion Criteria: * Molecular diagnosis of RFC1-ataxia * age \>18 years and \<80 years * ability to sign informed consent Exclusion Criteria: * Diagnosis of other degenerative and/or non-degenerative neurological diseases * Not signed informed consent

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Conditions

The condition(s) this trial relates to.

cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

As listed by the trial registrant

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

Canvas syndrome

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

  • Alma Mater Studiorum University of Bologna

    ACTIVE_NOT_RECRUITING

    Bologna, 40126, Italy

  • Department of Neuroscience

    RECRUITING

    Roma, 00168, Italy