Neural Correlates of Movement Disorders Associated With PRRT2 Related Paroxysmal Kinesigenic Dyskinesia - an Ancillary Study of AMEDYST Research
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In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Voluntary and involuntary conditions.
- Who it may be relevant to
- Registry conditions: Paroxysmal Dyskinesia. Basic parameters: 18 years — 75 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Corrélats Neuronaux Des Accès de Mouvements Anormaux Paroxystiques Liées Aux Dyskinésies Paroxystiques kinésigéniques Secondaires à Une Mutation du Gene PRRT2 - Recherche Ancillaire de L'étude AMEDYST " Dont Vous êtes l'Investigateur Principal
Overview
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.
Interventions
- Behavioral 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)
Primary outcome measures
- BOLD signal amplitude [Time frame: Visit 1 to 5]
- EEG signal amplitude [Time frame: Visit 6 to 10]
Secondary outcome measures (1)
- Perception of control over an movement [Time frame: Visit 11 to Visit 14 (optional)]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Basic science
Study locations
France · 1 center
- Institut du Cerveau de la Moelle Epinière ICM, Hôpital Pitié Salpêtrière, — Paris
Identifiers
NCT: NCT06701851 · C22-09 · 022-A02824-39