Interactions Between Striatum and Cerebellum in ADCY5 and PRRT2 Dystonias

NCT03481491 | Completed

• 2 other identifiers: C16-1282017-A01843-50
• Study Type: interventional
• Target: 104
• Locations: 1 country
• Sites: 1

Brief Summary

The investigators will study the relationship between the basal ganglia and the cerebellum in dystonia by associating cerebellar stimulations with functional magnetic resonance imaging analysis.

Conditions

Dystonia

Keywords

Cerebellum; Striatum; Human; fMRI; Transcranial magnetic stimulation; Genetic dystonia

Outcome Measures

Primary Outcomes (1)

• Resting state functional connectivity between the cerebellum and the striatum

  Synchrony between the cerebellum and the striatum, calculated from resting state fMRI done at visit2 will be compared between the 3 groups (healthy controls, ADCY5 patients, PRTT2 patients)

  6 weeks

Secondary Outcomes (5)

• Amplitude of Low Frequency Fluctuation (ALFF) of blood oxygen level-dependent signal in the cerebellum

  6 weeks

• Fractional anisotropy (FA) of the cerebello-striatal tract

  1 day

• Creatine concentration in the striatum measured with diffusion weighted spectroscopy.

  6 weeks

• Amplitude of Low Frequency Fluctuation (ALFF) of blood oxygen level-dependent signal in the striatum

  6 weeks

• Resting state functional connectivity between the cerebellum and the thalamus

  6 weeks

Study Arms (2)

Sham cerebellar stimulation

SHAM COMPARATOR

Participants will receive a Sham stimulation (inefficient probe) applied over the cerebellum.

Other: transcranial magnetic stimulation of the cerebellum

Real cerebellar stimulation

ACTIVE COMPARATOR

Participants will receive a real continuous theta burst stimulation (cTBS) applied over the cerebellum.

Other: transcranial magnetic stimulation of the cerebellum

Interventions

transcranial magnetic stimulation of the cerebellum OTHER

The intervention will consist in a continuous theta burst stimulation of the cerebellum under neuronavigation.

Real cerebellar stimulation; Sham cerebellar stimulation

Eligibility Criteria

• Age: 15 Years - 60 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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).

You may not qualify if:

• 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
• Open scalp wounds or scalp infection,
• epilepsy or seizures
• Taking at the time of the study: ketamine, antidepressants, ganciclovir, ritonavir, amphetamines, antiemetic.

Sponsors & Collaborators

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

Study Sites (1)

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

Paris, France

Location

Related Publications (2)

• Ekmen A, Meneret A, Valabregue R, Beranger B, Worbe Y, Lamy JC, Mehdi S, Herve A, Adanyeguh I, Temiz G, Damier P, Gras D, Roubertie A, Piard J, Navarro V, Mutez E, Riant F, Welniarz Q, Vidailhet M, Lehericy S, Meunier S, Gallea C, Roze E. Cerebellum Dysfunction in Patients With PRRT2-Related Paroxysmal Dyskinesia. Neurology. 2022 Mar 8;98(10):e1077-e1089. doi: 10.1212/WNL.0000000000200060. Epub 2022 Jan 20.

  PMID: 35058336 RESULT

• Ekmen A, Doulazmi M, Meneret A, Jegatheesan P, Herve A, Damier P, Gras D, Roubertie A, Piard J, Mutez E, Tarrano C, Welniarz Q, Vidailhet M, Worbe Y, Gallea C, Roze E. Non-Motor Symptoms and Quality of Life in Patients with PRRT2-Related Paroxysmal Kinesigenic Dyskinesia. Mov Disord Clin Pract. 2023 Jun 5;10(7):1082-1089. doi: 10.1002/mdc3.13795. eCollection 2023 Jul.

  PMID: 37476308 RESULT

MeSH Terms

Conditions

Dystonia

Condition Hierarchy (Ancestors)

Dyskinesias; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Emmanuel Flamand-Roze, MD, PhD

  Pitié-Salpêtrière

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: SINGLE
• Who Masked: PARTICIPANT
• Masking Details: Participants will be blinded to the TMS procedure (SHAM or real stimulation).
• Purpose: BASIC SCIENCE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 20, 2018
• First Posted: March 29, 2018
• Study Start: August 6, 2018
• Primary Completion: August 4, 2023
• Study Completion: August 4, 2024
• Last Updated: November 18, 2025

Record last verified: 2025-01

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)