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Brain scan study reveals clues in rare movement disorders

NCT ID NCT03481491

Knowledge-focused Sponsor: Institut National de la Santé Et de la Recherche Médicale, France Source: ClinicalTrials.gov ↗

What the study statuses mean

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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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 how two brain regions—the cerebellum and striatum—communicate in people with dystonia caused by ADCY5 or PRRT2 gene mutations. Researchers used MRI scans and mild brain stimulation to compare brain activity among patients and healthy volunteers. The goal was to better understand the brain circuits involved, 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.

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

104 people

The number who actually took part.

Started

Aug 2018

Finished

Aug 2024

Lead sponsor

A government agency

The lead sponsor is a government body.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

15 to 60 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: * clinical diagnosis of Dystonia * characterized ADCY5 or PRRT2 mutation * must have a European Social Security card or a parent having an European Social Security card * must be older than \> 15 years 3 months * must be able to give informed consent or, for minor patients, parents must be able to give informed consent * must be able to comply with all study procedures, based on the judgment by the investigator(s). Exclusion Criteria: * major depression or any major mental disorders (axis I disorders) * neurologic disorder other than dystonia * presence of pacemaker, intracardiac lines, implanted pumps or stimulators, or metal objects inside the eye or skull, cochlear implant * Permanent makeup of lips or eyelids * Black large tattoo close to the head * Severe claustrophobia * Current pregnancy or breast feeding * Copper intrauterine device Subjects with one of the following exclusion criteria will not receive cerebellar stimulation * Open scalp wounds or scalp infection, * epilepsy or seizures * Taking at the time of the study: ketamine, antidepressants, ganciclovir, ritonavir, amphetamines, antiemetic.

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Conditions

The condition(s) this trial relates to.

dyskinesia with orofacial involvement, autosomal dominant Dystonia dystonic disorder episodic kinesigenic dyskinesia 1

As listed by the trial registrant

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

Dystonia

Contacts and locations

Locations

  • Département de Neurologie, Fédération des Maladies du Système Nerveux, GH Pitié-Salpêtrière, 47 Bd de l'Hôpital

    Paris, France

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