- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05136495
Assessment of ADCY5-related Movement Disorders With Motion SENSors (SENSeo-ADCY5)
January 19, 2024 updated by: Assistance Publique - Hôpitaux de Paris
Assessment of ADCY5-related Movement Disorders With Motion SENSors: a Feasibility Study
ADCY5-related movement disorders are caused by dominant mutations in the ADCY5 gene.
This rare neurogenetic disease is characterized by childhood-onset generalized hyperkinetic movements.
Currently, the only tools available to rate the severity of movement disorders observed in ADCY5-patients are clinical rating scales of abnormal movements.
These scales use the investigators' judgement to rate globally the severity of movements observed in various body parts of the patient.
This protocol proposes to investigate a multimodal approach, combining a clinical scale assessment with ViconTM's objective movement measurement.
A secondary objective of the study is to assess the effect of coffee on ADCY5-patients.
Study Overview
Status
Recruiting
Conditions
Intervention / Treatment
Detailed Description
ADCY5-related movement disorders are caused by dominant mutations in the ADCY5 gene.
This rare neurogenetic disease is characterized by childhood-onset generalized hyperkinetic movements.
The abnormal movements typically comprise a combination of dystonia, myoclonus and chorea occurring on a background of axial hypotonia, with superimposed disabling episodes of paroxysmal dyskinesia.
The causing mutations are located in the ADCY5 gene coding for the Adenylate Cyclase 5 (AC5).
AC5 is highly expressed in the striatal projection neurons of the striatum, a region involved in the control of movements.
No effective treatment has been found.
Currently, the only tools available to rate the severity of movement disorders observed in ADCY5-patients are clinical rating scales of abnormal movements.
These scales use the investigators' judgement to globally rate movements severity in various body parts.
This leads to inter-raters' scoring variability.
An objective assessment through refined and comprehensive quantification of movements is needed.
A motion capture system, such as ViconTM, could better reflect the global and focal variations of abnormal movements.
This would be critical for the evaluation of responses to potential treatments.
This protocol proposes to investigate a multimodal approach, combining a clinical scale assessment with ViconTM's objective movement measurement.
A secondary objective of the study is to assess the effect of coffee on ADCY5-patients.
The caffeine contained in coffee acts as a nonselective adenosine receptor antagonist, with a strong affinity for A2A receptors.
By blocking A2A receptors, caffeine reduces the enzymatic activity of the altered mutated AC5 protein coded by the mutated ADCY5 gene.
This effect could modulate the abnormal movements observed in patients.
Study Type
Interventional
Enrollment (Estimated)
10
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 Contact
- Name: louise laure MARIANI, MD, PhD
- Phone Number: +33 1 42 16 27 48
- Email: louise-laure.mariani@icm-institute.org
Study Locations
-
-
-
Paris, France, 75013
- Recruiting
- CIC Neurosciences, GH Pitié-Salpêtrière
-
Contact:
- Louise-Laure Mariani, MD
- Phone Number: +33 0142162748
- Email: louise-laure.mariani@icm-institute.org
-
-
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
13 years and older (Child, Adult, Older Adult)
Accepts Healthy Volunteers
No
Description
Inclusion Criteria:
- ADCY5 mutation carriers
- Age > 15 years old and 3 months
- Informed consent from the patient or/ and a legal representative when appropriate
- Affiliated with a social security system or beneficiary of such a regime or by waiver from CPP ( french ethic committee) for patients outside the European union ( EU)
- daily caffeine consumer
Exclusion Criteria:
- Hypersensitivity to caffeine or to xanthine derivatives
- Heart condition contraindicating coffee intake
- Liver failure
- Impaired comprehension interfering with an informed consent
- Positive pregnancy test for women of childbearing potential
- Patient treated by Enoxacin, Ciprofloxacin, Norfloxacin (Noroxin), Cimetidine, Phenytoin β-adrenergic drugs (β2 mimetics) at inclusion.
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: Other
- Allocation: Randomized
- Interventional Model: Crossover Assignment
- Masking: Double
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: Caffeinated coffee
Drink caffeinated coffee one morning and drink decaffeinated coffee the other morning
|
Drink caffeinated coffee one morning and drink decaffeinated coffee the other morning
|
Experimental: Decaffeinated coffee
Drink decaffeinated coffee one morning and drink caffeinated coffee the other morning
|
Drink caffeinated coffee one morning and drink decaffeinated coffee the other morning
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Quantification movement disorders
Time Frame: 24 HOURS
|
Assessment of correlation between displacement data using the ViconTM system and standardized clinical scales' scores of movements
|
24 HOURS
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Coffee effects
Time Frame: 24 Hours
|
Change in abnormal movements, measured with motion sensors (ViconTM system) after caffeinated coffee vs after decaffeinated coffee
|
24 Hours
|
Involuntary scales evaluation
Time Frame: 24 Hours
|
Change in abnormal movements, measured with standardized clinical scale (Abnormal Involuntary Movement Scale (AIMS; Global score range 0 to 28 and severity subscore range 0 to 4; higher scores mean worse outcome), after caffeinated coffee vs after decaffeinated coffee
|
24 Hours
|
Dyskinesia impairment evaluation
Time Frame: 24 Hours
|
Change in abnormal movements, measured with standardized clinical scale Dyskinesia Impairment Scale (DIS) (total score range 0 to 288; higher scores mean worse outcome) after caffeinated coffee vs after decaffeinated coffee
|
24 Hours
|
Dyskinesia Rating Scale evaluation
Time Frame: 24 Hours
|
Change in abnormal movements, measured with standardized clinical scale Unified Dyskinesia Rating Scale (UDysRS) (total score range of 0 to 104; higher scores mean worse outcome), after caffeinated coffee vs after decaffeinated coffee
|
24 Hours
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
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 (Estimated)
July 4, 2024
Primary Completion (Estimated)
July 4, 2024
Study Completion (Estimated)
July 4, 2024
Study Registration Dates
First Submitted
April 29, 2021
First Submitted That Met QC Criteria
November 26, 2021
First Posted (Actual)
November 29, 2021
Study Record Updates
Last Update Posted (Actual)
January 23, 2024
Last Update Submitted That Met QC Criteria
January 19, 2024
Last Verified
January 1, 2024
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- APHP201439
- 2021-A00994-37 (Other Identifier: IDRCB Number)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
NO
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
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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