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Genetic clues may predict when Friedreich's ataxia begins

NCT ID NCT04346238

Knowledge-focused Sponsor: University Hospital, Montpellier 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
Running, but no longer taking on new participants.
Completed This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 looked at 120 people with Friedreich's ataxia, a rare genetic disease that causes progressive movement problems. Researchers examined tiny interruptions in the DNA expansion that causes the disease to see if they influence when symptoms start and how severe they become. The goal is to better understand the disease, not to test a treatment.

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.

Participants

120 people

The number who actually took part.

Started

Mar 2020

Finished

Dec 2024

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.

Who is studied

Patients with Friedriech Ataxia genetically confirmed. .

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: * Subjects with diagnosis of genetically confirmed Friedreich's Ataxia (AF) and : * two expansions of GAAN triplets (\> 100 repetitions or "premutation", corresponding to\> 32 but \<100 repetitions) located in intron 1 of the FXN gene present on the two alleles; * symptomatic (SARA scale\> 4); * having signed a consent for the performance of genetic analyzes which also includes the authorization for the conduct of further studies for research purposes and the authorization for the collection, entry and computer processing of medical data, in all confidentiality. A newsletter on the principle of non-opposition will be sent. Exclusion criteria: * Patients with Friedreich's ataxia due to an expansion associated with a point mutation or a deletion in trans; * Patients who, at the time of signing the genetic consent, objected to the use of their data for research purposes.

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Conditions

The condition(s) this trial relates to.

Friedreich ataxia

As listed by the trial registrant

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

Friedreich ataxia

Contacts and locations

Locations

  • Uh Montpellier

    Montpellier, Montpellier, 34295, France

More trials for these conditions

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