Pilot Study on Caffeine Efficiency in ADCY5-related Dyskinesia

NCT04351360 | Completed

• 2 other identifiers: C19-262020-A00166-33
• Study Type: observational
• Target: 15
• Locations: 1 country
• Sites: 1

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.

Conditions

Dyskinesias

Keywords

ADCY5 mutation

Outcome Measures

Primary Outcomes (1)

• Percentage of responders to caffeine

  the response being defined as an improvement of overall involuntary movements of 40% or more.

  one hour

Secondary Outcomes (5)

• Global change of involuntary movements ranging from 0 (no change) to 10 (disappearance of involuntary movements)

  one hour

• Global clinical change ranging from 0 (no change) to 10 (normalization of the global clinical state)

  one hour

• Change of the duration of paroxysmal episodes of movement disorders with caffeine

  one hour

• Frequency change of paroxysmal episodes of movement disorders with caffeine

  one hour

• Presence or absence of psychiatric symptoms

  one hour

Eligibility Criteria

• Age: 8 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with ADCY5-related dyskinesia being actively treated, or who have been previously treated, with caffeine.

You may qualify if:

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

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead

Study Sites (1)

Département de Neurologie Groupe Hospitalier Pitié-Salpêtrière

Paris, 75651 PARIS Cedex 13, France

Location

Related Publications (7)

• Chen DH, Meneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perriere N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH. ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.

  PMID: 26537056 BACKGROUND

• Friedman JR, Meneret A, Chen DH, Trouillard O, Vidailhet M, Raskind WH, Roze E. ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias. Mov Disord. 2016 Jan;31(1):147-8. doi: 10.1002/mds.26494. Epub 2015 Dec 21. No abstract available.

  PMID: 26686870 BACKGROUND

• Lee KW, Hong JH, Choi IY, Che Y, Lee JK, Yang SD, Song CW, Kang HS, Lee JH, Noh JS, Shin HS, Han PL. Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase. J Neurosci. 2002 Sep 15;22(18):7931-40. doi: 10.1523/JNEUROSCI.22-18-07931.2002.

  PMID: 12223546 BACKGROUND

• Meneret A, Gras D, McGovern E, Roze E. Caffeine and the Dyskinesia Related to Mutations in the ADCY5 Gene. Ann Intern Med. 2019 Sep 17;171(6):439. doi: 10.7326/L19-0038. Epub 2019 Jun 11. No abstract available.

  PMID: 31181574 BACKGROUND

• Vijiaratnam N, Newby R, Kempster PA. Depression and psychosis in ADCY5-related dyskinesia-part of the phenotypic spectrum? J Clin Neurosci. 2018 Nov;57:167-168. doi: 10.1016/j.jocn.2018.08.049. Epub 2018 Aug 30.

  PMID: 30172639 BACKGROUND

• Yamada K, Kobayashi M, Kanda T. Involvement of adenosine A2A receptors in depression and anxiety. Int Rev Neurobiol. 2014;119:373-93. doi: 10.1016/B978-0-12-801022-8.00015-5.

  PMID: 25175973 BACKGROUND

• Meneret A, Mohammad SS, Cif L, Doummar D, DeGusmao C, Anheim M, Barth M, Damier P, Demonceau N, Friedman J, Gallea C, Gras D, Gurgel-Giannetti J, Innes EA, Necpal J, Riant F, Sagnes S, Sarret C, Seliverstov Y, Paramanandam V, Shetty K, Tranchant C, Doulazmi M, Vidailhet M, Pringsheim T, Roze E. Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study. Mov Disord. 2022 Jun;37(6):1294-1298. doi: 10.1002/mds.29006. Epub 2022 Apr 5.

  PMID: 35384065 RESULT

MeSH Terms

Conditions

Dyskinesias

Condition Hierarchy (Ancestors)

Movement Disorders; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Aurélie Meneret

  APHP

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 13, 2020
• First Posted: April 17, 2020
• Study Start: May 15, 2020
• Primary Completion: May 6, 2021
• Study Completion: May 6, 2021
• Last Updated: December 4, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)