DystoniaDYSCHOLNCT02727361
Role of the Striatal Cholinergic System in the Pathophysiology of Dystonia
A study testing PET (Positron Emission Tomography) imaging and MRI : Magnetic Resonance Imaging in people with Dystonia, run by University Hospital, Bordeaux at 1 site in France.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 to 75 yearsHealthy volunteers can take part
- Conditions the study is for
- Dystonia
- What is being tested?
- PET (Positron Emission Tomography) imaging and MRI : Magnetic Resonance Imaging
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 40 participants
- Where
- 1 siteFrance
- Study dates
- Jan 2016to 1 Mar 2018
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 75 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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).
- Conditions
- Dystonia
- Being tested
- PET (Positron Emission Tomography) imaging, MRI : Magnetic Resonance Imaging
- Keywords
- Dystonia, Binding potential, FEOBV
- Medical subject headings
- Dystonia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
PET (Positron Emission Tomography) imagingRadiation
Molecular imaging using a PET radiotracer of the vesicular acetylcholine transporter.
MRI : Magnetic Resonance ImagingOther
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 group | Role | What they receive |
|---|---|---|
| Cholinergic striatal imaging | Experimental | Cholinergic striatal imaging (IRM and TEP) to compare the intensity of the binding of cholinergic tracer Receives: Radiation: PET (Positron Emission Tomography) imaging; Other: MRI : Magnetic Resonance Imaging |
What is being measured
The primary outcome is the main question the study is designed to answer.
Binding potential
Image (PET) of the intensity of fixation of Cholinergic tracer (Binding potential)
Measured: Inclusion (V0)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Apr 2016 (estimated)
- Study startJan 2016
- Primary completion1 Mar 2018
- Study completion1 Mar 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for DystoniaStudies of the same condition, open and under way.
- More trials run by University Hospital, BordeauxThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Health services research
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 40 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- FERNANDEZ Philippe, Principal investigator, University Hospital, BordeauxBURBAUD Pierre, Study chair, University of Bordeaux
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02727361
- Sponsor's protocol ID
- CHUBX2014/20
- Other IDs
- 2015-002891-25, 2015
- Acronym
- DYSCHOL
- Status last verified
- Feb 2019
- First submitted
- 21 Mar 2016
- Last updated
- 14 May 2026
- Results posted
- No
- Data monitoring committee
- No
Publications
Mazere J, Dilharreguy B, Catheline G, Vidailhet M, Deffains M, Vimont D, Ribot B, Barse E, Cif L, Mazoyer B, Langbour N, Pisani A, Allard M, Lamare F, Guehl D, Fernandez P, Burbaud P. Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia. Brain. 2021 Apr 12;144(3):909-923. doi: 10.1093/brain/awaa465.
PubMed 33638639
Study at a glance
From the registry record, last updated by the sponsor on 14 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Role of the Striatal Cholinergic System in the Pathophysiology of Dystonia
- ClinicalTrials.gov ID
- NCT02727361
- Acronym / sponsor ID
- DYSCHOL / CHUBX2014/20
- Conditions
- Dystonia
- Keywords
- Dystonia, Binding potential, FEOBV
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 40 participants (actual)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Study start
- Jan 2016 (actual)
- Primary completion
- 1 Mar 2018 (actual)
- Study completion
- 1 Mar 2018 (actual)
- First posted
- 4 Apr 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Primary purpose
- Health services research
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cholinergic striatal imaging | Experimental | Radiation: PET (Positron Emission Tomography) imaging, Other: MRI : Magnetic Resonance ImagingCholinergic striatal imaging (IRM and TEP) to compare the intensity of the binding of cholinergic tracer |
Who may qualify
- Ages
- 18 to 75 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (8 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| PET (Positron Emission Tomography) imagingMolecular imaging using a PET radiotracer of the vesicular acetylcholine transporter. | Radiation | Cholinergic striatal imaging |
| MRI : Magnetic Resonance ImagingMultimodal 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). | Other | Cholinergic striatal imaging |
Primary outcome
Binding potential
Time frame: Inclusion (V0)
Image (PET) of the intensity of fixation of Cholinergic tracer (Binding potential)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 May 2026.
- Results publication: PubMed 33638639Mazere J, Dilharreguy B, Catheline G, Vidailhet M, Deffains M, Vimont D, Ribot B, Barse E, Cif L, Mazoyer B, Langbour N, Pisani A, Allard M, Lamare F, Guehl D, Fernandez P, Burbaud P. Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia. Brain. 2021 Apr 12;144(3):909-923. doi: 10.1093/brain/awaa465.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
FERNANDEZ Philippe principal investigator
University Hospital, Bordeaux
BURBAUD Pierre study chair
University of Bordeaux
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing PET (Positron Emission Tomography) imaging and MRI : Magnetic Resonance Imaging in people with Dystonia, run by University Hospital, Bordeaux at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 14 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Binding potential (time frame: Inclusion (V0)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02727361, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 May 2026.