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NCT04469283: ADCY5-CAF

Caffeine Efficacy in ADCY5-related Dyskinesia

Status unknown Last updated 14 July 2020
What this trial tests

trial testing caffeine and movement disorders in ADCY5-related Dyskinesia in 20 participants. Status unknown.

Timeline
15 July 2020
Primary endpoint
15 July 2021
15 July 2021

Quick facts

Lead sponsorAssistance Publique - Hôpitaux de Paris
StatusStatus unknown
Study typeOBSERVATIONAL
Enrollment20
Start date15 July 2020
Primary completion15 July 2021
Estimated completion15 July 2021

Drugs / interventions tested

Conditions studied

Sponsor

Assistance Publique - Hôpitaux de Paris — full company profile →

Who can join

Eligibility, any sex, with ADCY5-related Dyskinesia. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

3 peer-reviewed publications reference this trial (live from Europe PMC):

  1. Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.
    Di Rocco M, Galosi S, Lanza E, Tosato F, et al · · 2022 · cited 37× · PMID 34622282 · DOI 10.1093/hmg/ddab296
  2. Scoping Review on ADCY5-Related Movement Disorders.
    Menon PJ, Nilles C, Silveira-Moriyama L, Yuan R, et al · · 2023 · cited 18× · PMID 37476318 · DOI 10.1002/mdc3.13796
  3. Phenotypic Assessment of Pathogenic Variants in <i>GNAO1</i> and Response to Caffeine in <i>C. elegans</i> Models of the Disease.
    Di Rocco M, Galosi S, Follo FC, Lanza E, et al · · 2023 · cited 17× · PMID 36833246 · DOI 10.3390/genes14020319

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