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New DNA reader aims to solve mystery of undiagnosed ataxia cases

NCT ID NCT06467175

Knowledge-focused Sponsor: Centre Hospitalier Universitaire Dijon 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

Cerebellar ataxias are rare brain disorders that affect coordination. Standard genetic tests leave about 40% of patients without a clear cause. This study will use a newer, long-read DNA sequencing technique on blood samples from 210 patients and their relatives to see if it can find hidden genetic changes that standard tests miss. The goal is to improve diagnosis rates for these patients.

What this could mean

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

Active substance
blood sampling for DNA extraction and long-read genome sequencing
What this could lead to
If successful, this could provide a genetic diagnosis for many patients with cerebellar ataxia who currently have no explanation, potentially guiding future care and family planning.
What could go wrong
This is an early-stage feasibility study, not a treatment trial. The new sequencing method may not find more causes than existing tests, and its higher cost could limit routine use.

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 210 people

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

Started

Dec 2024

Expected to finish

Jun 2028

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.

Inclusion Criteria: * Index case with progressive cerebellar ataxia of familial form (\> 1 1st or 2nd degree relative affected) or sporadic form (onset of symptoms before age 50) * Index case having undergone srGS and not having obtained a molecular diagnosis, whose srGS data are available for reanalysis. * Ability to understand and sign consent by the index case and his/her relative(s) (up to a maximum of 2) * Sample may be taken from the index case and at least one affected or healthy\* first-degree relative (parent, sibling) \* Healthy relatives must be older than the patient to avoid conducting a presymptomatic test in subjects who consider themselves to be healthy. Exclusion Criteria: * Index case or relative(s) not affiliated to national health insurance; * Index case and his/her parents presenting a condition that, in the opinion of the investigator, would contraindicate the subject's participation in the study. * Person under legal protection (curatorship, guardianship) * Person subject to a measure of legal protection * Pregnant, parturient or breast-feeding women * An adult who is unable to give consent

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Conditions

The condition(s) this trial relates to.

cerebellar ataxia

As listed by the trial registrant

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

Cerebellar ataxias

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

  • Chu Dijon Bourgogne

    RECRUITING

    Dijon, 21000, France