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Assessment of ADCY5-related Movement Disorders With Motion SENSors (SENSeo-ADCY5)

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ClinicalTrials.gov Identifier: NCT05136495
Recruitment Status : Not yet recruiting
First Posted : November 29, 2021
Last Update Posted : November 29, 2021
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Brief Summary:
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.

Condition or disease Intervention/treatment Phase
ADCY5-related Dyskinesia Other: caffeinated coffee - decaffeinated coffee Not Applicable

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.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 10 participants
Allocation: Randomized
Intervention Model: Crossover Assignment
Masking: Double (Participant, Investigator)
Primary Purpose: Other
Official Title: Assessment of ADCY5-related Movement Disorders With Motion SENSors: a Feasibility Study
Estimated Study Start Date : January 12, 2022
Estimated Primary Completion Date : January 12, 2024
Estimated Study Completion Date : January 12, 2024

Resource links provided by the National Library of Medicine


Arm Intervention/treatment
Experimental: Caffeinated coffee
Drink caffeinated coffee one morning and drink decaffeinated coffee the other morning
Other: caffeinated coffee - decaffeinated coffee
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
Other: caffeinated coffee - decaffeinated coffee
Drink caffeinated coffee one morning and drink decaffeinated coffee the other morning




Primary Outcome Measures :
  1. Quantification movement disorders [ Time Frame: 24 HOURS ]
    Assessment of correlation between displacement data using the ViconTM system and standardized clinical scales' scores of movements


Secondary Outcome Measures :
  1. Coffee effects [ Time Frame: 24 Hours ]
    Change in abnormal movements, measured with motion sensors (ViconTM system) after caffeinated coffee vs after decaffeinated coffee

  2. 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

  3. 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

  4. 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



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Ages Eligible for Study:   15 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05136495


Contacts
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Contact: louise laure MARIANI, MD, PhD 1 42 16 27 48 ext +33 louise-laure.mariani@icm-institute.org

Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
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Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT05136495    
Other Study ID Numbers: APHP201439
2021-A00994-37 ( Other Identifier: IDRCB Number )
First Posted: November 29, 2021    Key Record Dates
Last Update Posted: November 29, 2021
Last Verified: October 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Assistance Publique - Hôpitaux de Paris:
ADCY5
COFFEE
movement disorders
Additional relevant MeSH terms:
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Dyskinesias
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Neurologic Manifestations