Scientists scan brain of rare movement disorder patient in real time
NCT ID NCT06701851
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looks at brain activity in a person with a rare genetic condition called PRRT2 mutation, which causes sudden, uncontrollable movements. The participant will undergo brain scans (fMRI and EEG) during and after these episodes, and also when they voluntarily mimic the movements. The goal is to understand which brain areas are involved, especially the striatum and cerebellum, to learn more about the disorder.
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 could help scientists understand the brain mechanisms behind paroxysmal dyskinesia, potentially pointing toward future treatments.
- What could go wrong
- This is a very small, early-stage observational study with only one participant, so findings may not apply to others and may not lead directly to treatments.
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
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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
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About 1 person
The number the study aims to enrol. It can still change while the study runs.
- Started
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Jan 2025
- Expected to finish
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Oct 2029
An estimate. End dates often move.
- Lead sponsor
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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
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18 to 75 years
- Sex
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Anyone
- Healthy volunteers
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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 Hide 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: Male or female Individuals with dystonic disease carrying a PRRT2 mutation and demonstrating the ability to control paroxysmal dyskinesia episodes. Affiliated with a health insurance system or a beneficiary of such a system. Individuals aged 18 to 75 years. Signature of informed consent Exclusion Criteria: Individuals under guardianship. Individuals not residing in France. Individuals unable to comply with protocol constraints (compliance with visit schedules and ability to perform required tasks). Individuals undergoing an exclusion period for another research study. Contraindications to MRI
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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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
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Institut du Cerveau de la Moelle Epinière ICM, Hôpital Pitié Salpêtrière,
RECRUITINGParis, 75651 PARIS cedex 13, France