Role of the Striatal Cholinergic System in the Pathophysiology of Dystonia (DYSCHOL)

May 11, 2026 updated by: University Hospital, Bordeaux
Dystonia is defined as a syndrome of sustained muscle contractions resulting in repetitive movements and abnormal postures. DYT1 is the most common form of genetic dystonia, but the link between genomic mutations and phenotypic expression remains largely unknown. Furthermore, secondary forms of dystonia have highlighted the role of the basal ganglia, particularly the putamen in the pathophysiology of the disease. Experimental results in a genetic model of dystonia in rodents suggest that cholinergic inter-neurons (ACh-I) of the putamen play a critical role in the pathological process of plasticity in the cortico-striatal synapse. However, these results have not been demonstrated in humans.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

The purpose of this study is to demonstrate that the phenotype of dystonia is associated with the degree of striatal ACh-I alterations.

In this molecular imaging study, the investigators will directly test this hypothesis using a PET radiotracer of the vesicular acetylcholine transporter (VAT). Their goal is to explore the relationships between cholinergic dysfunction and clinical disease expression and the associated morphological and functional alterations. The experimental protocol will also include multimodal MRI, MRI diffusion tensor (to study the microscopic structure of white matter) and functional MRI of the resting state (to study the functional organization of cerebral cholinergic networks at rest).

Study Type

Interventional

Enrollment (Actual)

40

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Bordeaux, France, 33076
        • CHU de Bordeaux

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 75 years (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Description

Inclusion Criteria:

  • Man or woman 18 to 75 years, with health insurance European health insurance card (for resident patients in EU), insurance by bilateral social security agreement signed between his country and France (for resident patients outside the EU)
  • Diagnosis of dystonia DYT1 confirmed by molecular biology (TORSINE- A gene mutation)
  • Patient who stopped his anticholinergic treatment 48 hours before imaging

Exclusion Criteria:

  • Patients who underwent surgery for deep brain stimulation or under cholinergic treatment.
  • Presence of a counter-indication for MRI
  • Presence of a counter-indication for TEP Scan with [18F]-FEOBV
  • Woman premenopausal without effective ongoing contraception (intrauterine device or combined hormonal)
  • Patient who underwent a PET examination in the previous month
  • Presence of any health problem preventing travel to the imaging service of the University Hospital
  • Being under the legal guardianship of another person or being unable to provide consent to participate
  • Pregnant or breastfeeding woman

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Health Services Research
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Cholinergic striatal imaging
Cholinergic striatal imaging (IRM and TEP) to compare the intensity of the binding of cholinergic tracer
Radiation: PET (Positron Emission Tomography) imaging
Molecular imaging using a PET radiotracer of the vesicular acetylcholine transporter.
Other: MRI : Magnetic Resonance Imaging
Multimodal MRI, MRI diffusion tensor (to study the microscopic structure of white matter) and functional MRI of the resting state (to study the functional organization of cerebral cholinergic networks at rest).

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Binding potential
Time Frame: Inclusion (V0)
Image (PET) of the intensity of fixation of Cholinergic tracer (Binding potential)
Inclusion (V0)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Bordeaux

Investigators

  • Study Chair: BURBAUD Pierre, University of Bordeaux
  • Principal Investigator: FERNANDEZ Philippe, University Hospital, Bordeaux

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2016

Primary Completion (Actual)

March 1, 2018

Study Completion (Actual)

March 1, 2018

Study Registration Dates

First Submitted

March 21, 2016

First Submitted That Met QC Criteria

March 29, 2016

First Posted (Estimated)

April 4, 2016

Study Record Updates

Last Update Posted (Actual)

May 14, 2026

Last Update Submitted That Met QC Criteria

May 11, 2026

Last Verified

February 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CHUBX2014/20
  • 2015-002891-25 (EudraCT Number)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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