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New DNA scanner could solve dystonia mystery for thousands

NCT ID NCT06999096

Diagnosis Sponsor: University Hospital, Strasbourg, France 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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

This study is testing whether a new, more detailed DNA reading technique (long-read genome sequencing) can find genetic causes of dystonia that standard tests miss. Researchers will analyze blood samples from 150 people with dystonia and their family members. If it works, this could end the long diagnostic journey for many patients and open doors to tailored treatments.

What this could mean

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

Active substance
Long-read whole genome sequencing (diagnostic test)
What this could lead to
If successful, this could provide a genetic diagnosis for many people with dystonia who currently have no answers, enabling better counseling and personalized treatment.
What could go wrong
This is an early-stage diagnostic study, not a treatment trial. It may not find new genetic causes for everyone, and the technology is still being validated for 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 150 people

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

Expected to start

Apr 2026

An estimate. Start dates often move.

Expected to finish

Aug 2030

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 - Index case: * Index case affected by familial dystonia (≥1 first-degree relative affected) and/or sporadic early-onset dystonia (symptom onset before age 50), meeting the criteria of the PFMG-2025 program. * Index case who has undergone short-read genome sequencing, which did not lead to a molecular diagnosis. * Ability to understand and sign informed consent by the index case and/or their parents or legal guardians for patients under 18 years of age. * Availability of a blood sample from the index case and at least two relatives, either affected or unaffected. Inclusion criteria - Relatives: * Symptomatic or asymptomatic relative of an index case, who has also undergone short-read genome sequencing without a conclusive molecular diagnosis. * Ability to understand and sign informed consent. Exclusion criteria: * Index case or relatives who are not affiliated with or not beneficiaries of a social security scheme. * Index case and their parents presenting with a condition that, in the opinion of the investigator, would contraindicate participation in the study. * Suspected non-genetic etiology (e.g., perinatal hypoxic-ischemic injury, kernicterus, history of severe head trauma or central nervous system infection).

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Conditions

The condition(s) this trial relates to.

combined dystonia Dystonia dystonic disorder movement disorder

As listed by the trial registrant

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

Combined dystonia Complex dystonia Dystonia Movement disorders

How to take part

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

  1. The places running it

    4 sites. 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

  • CHRU Nancy

    RECRUITING

    Nancy, 54000, France

  • CHU de Montpellier - Hôpital Gui de Chauliac

    NOT_YET_RECRUITING

    Montpellier, 34295, France

  • Hôpital Pitié Salpêtrière- APHP

    NOT_YET_RECRUITING

    Paris, 75013, France

  • Hôpitaux Universitaires de Strasbourg

    NOT_YET_RECRUITING

    Strasbourg, 67000, France

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