Neural Correlates of Movement Disorders Associated With PRRT2 Related Paroxysmal Kinesigenic Dyskinesia - an Ancillary Study of AMEDYST Research

NCT ID: NCT06701851

Last Updated: 2025-04-16

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 1 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2025-01-21
• Study Completion Date: 2028-11-30

Brief Summary

The main objective of this study is to investigate in real-time the neuronal correlates of paroxysmal dyskinesia episodes related to the PRRT2 mutation within this subgroup of patients (who can control paroxysmal dyskinesia episodes), and more specifically, the pathological role of the reciprocal influence between the striatum and the cerebellum in paroxysmal dyskinesia episodes.

Detailed Description

We propose to conduct a study using functional MRI and EEG in this subgroup of patients with the PRRT2 mutation capable of triggering paroxysmal dyskinesia episodes. For both modalities, we aim to perform an analysis of the activation of regions involved in the occurrence of abnormal movements during the prodromal phase when the acquisition is not affected by movements. Using these techniques, we will also investigate the regions involved in judging control over action during phases where abnormal movements may occur before the episode (when the system is excitable) and when it is no longer possible during the refractory period (when the system is no longer excitable). Additionally, we plan to conduct a targeted analysis of functional connectivity in the striato-cerebellar pathway before the episodes (when the system is excitable) and after the episodes during the refractory period (when it is no longer excitable).

Our hypotheses are as follows: 1) there is a relationship between the cerebellum, the basal ganglia and the cortex implicated in the abnormal movements associated with the PRRT2 mutation; 2) the frontal or prefrontal cortex, the cerebellum and basal ganglia are involved in the inhibition of unwanted movements; 3) there is a distortion in the sense of control over action related to paroxysmal dyskinesia episodes.

Conditions

Paroxysmal Dyskinesia

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: BASIC_SCIENCE
• Blinding Strategy: NONE

Study Groups

Patients

We will conduct a study using functional MRI and EEG in this subgroup of at least 1 patient(s) with a PRRT2 mutation capable of triggering paroxysmal dyskinesia episodes. We will analyze of the activation of regions involved in the occurrence of abnormal movements during the prodromal phase, during which the acquisition is not affected by movements. We will also investigate the regions involved in judging control over action during phases where abnormal movements may occur before and after the dyskinetic episode.

Thus, each subject will serve as their own control across different conditions of the experimental paradigm.

Group Type: EXPERIMENTAL

Voluntary and involuntary conditions

Intervention Type: BEHAVIORAL

An task fMRI/EEG acquisition during the prodromal phase preceding the episode of abnormal movements.

A task fMRI/EEG acquisition the episode of abnormal movements A task fMRI/EEG acquisition when the subject voluntary mimics the sequence of events (prdrosomal phase + episode of dyskinesia)

Interventions

Voluntary and involuntary conditions

An task fMRI/EEG acquisition during the prodromal phase preceding the episode of abnormal movements.

A task fMRI/EEG acquisition the episode of abnormal movements A task fMRI/EEG acquisition when the subject voluntary mimics the sequence of events (prdrosomal phase + episode of dyskinesia)

Intervention Type: BEHAVIORAL

Eligibility Criteria

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

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 75 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Institut National de la Santé Et de la Recherche Médicale, France

OTHER_GOV

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Institut du Cerveau de la Moelle Epinière ICM, Hôpital Pitié Salpêtrière,

Paris, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Emmanuel Roze, MD, PhD

Role: CONTACT

emmanuel.flamand-roze@psl.aphp.fr

+33142162748

Facility Contacts

Emmanuel FLAMAND ROZE

Role: primary

emmanuel.flamand-roze@psl.aphp.fr

+33 1 42 16 27 48

Other Identifiers

022-A02824-39

Identifier Type: REGISTRY

Identifier Source: secondary_id

C22-09

Identifier Type: -

Identifier Source: org_study_id