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Pilot Study on Caffeine Efficiency in ADCY5-related Dyskinesia (CAF-ADCY5)

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ClinicalTrials.gov Identifier: NCT04351360
Recruitment Status : Unknown
Verified February 2020 by Institut National de la Santé Et de la Recherche Médicale, France.
Recruitment status was:  Not yet recruiting
First Posted : April 17, 2020
Last Update Posted : April 17, 2020
Sponsor:
Information provided by (Responsible Party):
Institut National de la Santé Et de la Recherche Médicale, France

Brief Summary:
Heterozygous mutations in the ADCY5 gene cause involuntary early-onset hyperkinetic movements. In addition, patients may have associated psychiatric disorders.There is currently no treatment. As the pathophysiology is linked to ADCY5 hyperactivity, the investigative team has treated patients with caffeine, an antagonist. The investigator wishes to interview patients on the effect of caffeine on their motor symptoms and their overall clinical condition, and on the possible existence of psychiatric comorbidities using phone questionnaires.

Condition or disease
Dyskinesias

Detailed Description:

Heterozygous mutations in the ADCY5 gene cause involuntary early-onset hyperkinetic movements. The phenotype combines chorea, dystonia and / or myoclonus with frequent facial involvement, axial hypotonia, fluctuations and / or episodes of paroxysmal dyskinesia which can be nocturnal and / or painful.

Many treatments have been tried, with no obvious efficacy. Two patients from the same family (a father and daughter) told investigators that caffeine had a dramatic effect on their paroxysmal episodes. They said that taking coffee would prevent episodes and reduce their duration (efficacy estimated at 80%), an effect specific to caffeine since it was reproduced by the ingestion of caffeine citrate capsules. Very interestingly, there is a rationale underlying this phenomenon. Indeed, caffeine is an antagonist of the adenosine A2A receptors (A2AR), receptors which activate ADCY5 and which are localized preferentially in striatal neurons expressing dopamine D2 receptors. As caffeine is an A2AR antagonist, it likely inhibits ADCY5, and therefore induces clinical improvement in patients with hyperactivity of this protein.

In addition, the investigative team noted anxiety in some of its patients, and the question of the presence of psychiatric disorders in ADCY5 patients was recently raised in the literature.

The investigative team wishes to collect standardized preliminary data by questioning patients on the effect of caffeine on their motor symptoms and their overall clinical state, and on the possible existence of psychiatric comorbidities using structured questionnaires which will be carried out by phone.

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Study Type : Observational
Estimated Enrollment : 20 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: Pilot Study on Subjective Efficiency of Caffeine in ADCY5-related Dyskinesia
Estimated Study Start Date : April 10, 2020
Estimated Primary Completion Date : April 10, 2021
Estimated Study Completion Date : April 10, 2021

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Caffeine




Primary Outcome Measures :
  1. Percentage of responders to caffeine [ Time Frame: one hour ]
    the response being defined as an improvement of overall involuntary movements of 40% or more.


Secondary Outcome Measures :
  1. Global change of involuntary movements ranging from 0 (no change) to 10 (disappearance of involuntary movements) [ Time Frame: one hour ]
    evaluated by patients

  2. Global clinical change ranging from 0 (no change) to 10 (normalization of the global clinical state) [ Time Frame: one hour ]
    evaluated by patients

  3. Change of the duration of paroxysmal episodes of movement disorders with caffeine [ Time Frame: one hour ]
    evaluated by patients

  4. Frequency change of paroxysmal episodes of movement disorders with caffeine [ Time Frame: one hour ]
    evaluated by patients

  5. Presence or absence of psychiatric symptoms [ Time Frame: one hour ]
    according to the MINI (Mini International Neuropsychiatric Interview)



Information from the National Library of Medicine

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Ages Eligible for Study:   8 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with ADCY5-related dyskinesia being actively treated, or who have been previously treated, with caffeine.
Criteria

Inclusion Criteria:

  • Proven genetic diagnosis of ADCY5-related dyskinesia
  • Caffeine intake
  • Non opposition by the patient or the legal representatives if the patient is a minor.

No Exclusion Criteria.


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): NCT04351360


Contacts
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Contact: Aurélie Méneret, MD, PhD +33 1 42 16 24 61 ext 0142161752 aurelie.meneret@aphp.fr
Contact: Aurélie Meneret 0142161752 ext 0142161752 aurelie.meneret@aphp.fr

Sponsors and Collaborators
Institut National de la Santé Et de la Recherche Médicale, France
Investigators
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Principal Investigator: Aurélie Meneret APHP
Publications:

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Responsible Party: Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier: NCT04351360    
Other Study ID Numbers: C19-26
2020-A00166-33 ( Registry Identifier: 2020-A00166-33 )
First Posted: April 17, 2020    Key Record Dates
Last Update Posted: April 17, 2020
Last Verified: February 2020
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 Institut National de la Santé Et de la Recherche Médicale, France:
ADCY5 mutation
Additional relevant MeSH terms:
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Dyskinesias
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Neurologic Manifestations