Pilot Study on Caffeine Efficiency in ADCY5-related Dyskinesia

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

15 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-05-15

Study Completion Date

2021-05-06

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Caffeine Efficacy in ADCY5-related Dyskinesia

NCT04469283

ADCY5-related Dyskinesia

UNKNOWN

Interactions Between Striatum and Cerebellum in ADCY5 and PRRT2 Dystonias

NCT03481491

Dystonia

COMPLETED NA

Abnormal Movements, Cerebellum and Sensorimotor : Oculomotor Study

NCT01495897

Healthy Dystonia Parkinson Disease

COMPLETED NA

EMOTION & COGNITION IN MYOCLONUS DYSTONIA (AGENT10-ECODYST)

NCT05671068

Myoclonus-Dystonia DYT11

COMPLETED

A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes

NCT06585605

Epilepsy in Children Dyskinesias Movement Disorders in Children +7 more

RECRUITING

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Dyskinesias

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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.

Minimum Eligible Age

8 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No