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

NCT06701851 | Recruiting

• 2 other identifiers: C22-09022-A02824-39
• Study Type: interventional
• Target: 1
• Locations: 1 country
• Sites: 1

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.

Conditions

Paroxysmal Dyskinesia

Keywords

dyskinesia; voluntary movements; cerebellum; basal ganglia; cortex; fMRI; EEG

Outcome Measures

Primary Outcomes (2)

• BOLD signal amplitude

  Visit 1 to 5

• EEG signal amplitude

  Visit 6 to 10

Secondary Outcomes (1)

• Perception of control over an movement

  Visit 11 to Visit 14 (optional)

Study Arms (1)

Patients

EXPERIMENTAL

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.

Behavioral: Voluntary and involuntary conditions

Interventions

Voluntary and involuntary conditions 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)

Patients

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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).

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead

Study Sites (1)

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

Paris, 75651 PARIS cedex 13, France

RECRUITING

MeSH Terms

Conditions

Chorea; Dyskinesias

Condition Hierarchy (Ancestors)

Movement Disorders; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Emmanuel Roze, MD, PhD

CONTACT

+33142162748; emmanuel.flamand-roze@psl.aphp.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 20, 2024
• First Posted: November 22, 2024
• Study Start: January 21, 2025
• Primary Completion (Estimated): January 1, 2028
• Study Completion (Estimated): October 1, 2029
• Last Updated: June 5, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)