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Caffeine Efficacy in ADCY5-related Dyskinesia

NCT04469283 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2020-07-14

No results posted yet for this study

Summary

Heterozygous mutations in ADCY5 induce hyperactivity of striatal adenylate cyclase type 5 (AC5), manifesting as early-onset hyperkinetic movement disorders. Numerous treatments have been tried without much efficacy thus far. Two patients from the same family reported efficacy of caffeine on paroxysmal episodes, both to prevent episodes and to reduce their duration (efficacy estimated to be around 80%), which was specific to caffeine as it was reproduced with caffeine citrate capsules. Interestingly, there is a rationale underlying this observation. Indeed, caffeine is an antagonist of adenosine A2A receptors (A2AR), which activate AC5 and are localized preferentially in striatal neurons that express dopamine receptors D2 .Caffeine therefore likely induces AC5 inhibition, and thus clinical improvement in patients with hyperactivity of this protein. This observation has been recently published in2019.

The investigators will collect preliminary data by interviewing our neurologist and neuropediatric colleagues, in France and abroad since it is a rare disease, on the effect of caffeine on motor symptoms and global clinical status in their ADCY5 patients.

Conditions

  • ADCY5-related Dyskinesia

Interventions

OTHER

caffeine and movement disorders

Caffeine efficacy on movement disorders in patients with ADCY5-related dyskinesia.

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-07-15
Primary Completion
2021-07-15
Completion
2021-07-15

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04469283 on ClinicalTrials.gov