ADCY5-related DyskinesiaSENSeo-ADCY5NCT05136495
Assessment of ADCY5-related Movement Disorders With Motion SENSors
A study testing caffeinated coffee - decaffeinated coffee in people with ADCY5-related Dyskinesia, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
ADCY5-related movement disorders are caused by dominant mutations in the ADCY5 gene. This rare neurogenetic disease is characterized by childhood-onset generalized hyperkinetic movements. Read more about this study
- Who is it for?
- Ages 15 years and older
- Conditions the study is for
- ADCY5-related Dyskinesia
- What is being tested?
- caffeinated coffee - decaffeinated coffee
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 2 participants
- Where
- 1 siteFrance
- Study dates
- 4 Jul 2022to 26 Oct 2022
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 15 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- ADCY5 mutation carriers
- Age > 15 years old and 3 months
- Informed consent from the patient or/ and a legal representative when appropriate
- Affiliated with a social security system or beneficiary of such a regime or by waiver from CPP ( french ethic committee) for patients outside the European union ( EU)
- daily caffeine consumer
Who cannot join
- Hypersensitivity to caffeine or to xanthine derivatives
- Heart condition contraindicating coffee intake
- Liver failure
- Impaired comprehension interfering with an informed consent
- Positive pregnancy test for women of childbearing potential
- Patient treated by Enoxacin, Ciprofloxacin, Norfloxacin (Noroxin), Cimetidine, Phenytoin β-adrenergic drugs (β2 mimetics) at inclusion.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Assessment of ADCY5-related Movement Disorders With Motion SENSors: a Feasibility Study
ADCY5-related movement disorders are caused by dominant mutations in the ADCY5 gene. This rare neurogenetic disease is characterized by childhood-onset generalized hyperkinetic movements. Currently, the only tools available to rate the severity of movement disorders observed in ADCY5-patients are clinical rating scales of abnormal movements. These scales use the investigators' judgement to rate globally the severity of movements observed in various body parts of the patient. This protocol proposes to investigate a multimodal approach, combining a clinical scale assessment with ViconTM's objective movement measurement. A secondary objective of the study is to assess the effect of coffee on ADCY5-patients.
Read the detailed description
ADCY5-related movement disorders are caused by dominant mutations in the ADCY5 gene. This rare neurogenetic disease is characterized by childhood-onset generalized hyperkinetic movements. The abnormal movements typically comprise a combination of dystonia, myoclonus and chorea occurring on a background of axial hypotonia, with superimposed disabling episodes of paroxysmal dyskinesia. The causing mutations are located in the ADCY5 gene coding for the Adenylate Cyclase 5 (AC5). AC5 is highly expressed in the striatal projection neurons of the striatum, a region involved in the control of movements. No effective treatment has been found. Currently, the only tools available to rate the severity of movement disorders observed in ADCY5-patients are clinical rating scales of abnormal movements. These scales use the investigators' judgement to globally rate movements severity in various body parts. This leads to inter-raters' scoring variability. An objective assessment through refined and comprehensive quantification of movements is needed. A motion capture system, such as ViconTM, could better reflect the global and focal variations of abnormal movements. This would be critical for the evaluation of responses to potential treatments. This protocol proposes to investigate a multimodal approach, combining a clinical scale assessment with ViconTM's objective movement measurement. A secondary objective of the study is to assess the effect of coffee on ADCY5-patients. The caffeine contained in coffee acts as a nonselective adenosine receptor antagonist, with a strong affinity for A2A receptors. By blocking A2A receptors, caffeine reduces the enzymatic activity of the altered mutated AC5 protein coded by the mutated ADCY5 gene. This effect could modulate the abnormal movements observed in patients.
- Conditions
- ADCY5-related Dyskinesia
- Being tested
- caffeinated coffee - decaffeinated coffee
- Keywords
- ADCY5, COFFEE, movement disorders
- Medical subject headings
- Dyskinesia, Familial, with Facial Myokymia, Movement Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
caffeinated coffee - decaffeinated coffeeOther
Drink caffeinated coffee one morning and drink decaffeinated coffee the other morning
| Study group | Role | What they receive |
|---|---|---|
| Caffeinated coffee | Experimental | Drink caffeinated coffee one morning and drink decaffeinated coffee the other morning Receives: Other: caffeinated coffee - decaffeinated coffee |
| Decaffeinated coffee | Experimental | Drink decaffeinated coffee one morning and drink caffeinated coffee the other morning Receives: Other: caffeinated coffee - decaffeinated coffee |
What is being measured
The primary outcome is the main question the study is designed to answer.
Quantification movement disorders
Assessment of correlation between displacement data using the ViconTM system and standardized clinical scales' scores of movements
Measured: 24 HOURS
Secondary outcomes (4)
Coffee effects
Change in abnormal movements, measured with motion sensors (ViconTM system) after caffeinated coffee vs after decaffeinated coffee
Measured: 24 Hours
Involuntary scales evaluation
Change in abnormal movements, measured with standardized clinical scale (Abnormal Involuntary Movement Scale (AIMS; Global score range 0 to 28 and severity subscore range 0 to 4; higher scores mean worse outcome), after caffeinated coffee vs after decaffeinated coffee
Measured: 24 Hours
Dyskinesia impairment evaluation
Change in abnormal movements, measured with standardized clinical scale Dyskinesia Impairment Scale (DIS) (total score range 0 to 288; higher scores mean worse outcome) after caffeinated coffee vs after decaffeinated coffee
Measured: 24 Hours
Dyskinesia Rating Scale evaluation
Change in abnormal movements, measured with standardized clinical scale Unified Dyskinesia Rating Scale (UDysRS) (total score range of 0 to 104; higher scores mean worse outcome), after caffeinated coffee vs after decaffeinated coffee
Measured: 24 Hours
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Nov 2021
- Study start4 Jul 2022
- Primary completion26 Oct 2022
- Study completion26 Oct 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for ADCY5-related DyskinesiaStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Double blind
- Who is masked
- Participant, Investigator
- Enrolment
- 2 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05136495
- Sponsor's protocol ID
- APHP201439
- Other IDs
- 2021-A00994-37
- Acronym
- SENSeo-ADCY5
- Status last verified
- Aug 2024
- First submitted
- 29 Apr 2021
- Last updated
- 23 Aug 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Assessment of ADCY5-related Movement Disorders With Motion SENSors: a Feasibility Study
- ClinicalTrials.gov ID
- NCT05136495
- Acronym / sponsor ID
- SENSeo-ADCY5 / APHP201439
- Conditions
- ADCY5-related Dyskinesia
- Keywords
- ADCY5, COFFEE, movement disorders
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 2 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 4 Jul 2022 (actual)
- Primary completion
- 26 Oct 2022 (actual)
- Study completion
- 26 Oct 2022 (actual)
- First posted
- 29 Nov 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
ADCY5-related movement disorders are caused by dominant mutations in the ADCY5 gene. This rare neurogenetic disease is characterized by childhood-onset generalized hyperkinetic movements. Currently, the only tools available to rate the severity of movement disorders observed in ADCY5-patients are clinical rating scales of abnormal movements. These scales use the investigators' judgement to rate globally the severity of movements observed in various body parts of the patient. This protocol proposes to investigate a multimodal approach, combining a clinical scale assessment with ViconTM's objective movement measurement. A secondary objective of the study is to assess the effect of coffee on ADCY5-patients.
Detailed description
ADCY5-related movement disorders are caused by dominant mutations in the ADCY5 gene. This rare neurogenetic disease is characterized by childhood-onset generalized hyperkinetic movements. The abnormal movements typically comprise a combination of dystonia, myoclonus and chorea occurring on a background of axial hypotonia, with superimposed disabling episodes of paroxysmal dyskinesia. The causing mutations are located in the ADCY5 gene coding for the Adenylate Cyclase 5 (AC5). AC5 is highly expressed in the striatal projection neurons of the striatum, a region involved in the control of movements. No effective treatment has been found. Currently, the only tools available to rate the severity of movement disorders observed in ADCY5-patients are clinical rating scales of abnormal movements. These scales use the investigators' judgement to globally rate movements severity in various body parts. This leads to inter-raters' scoring variability. An objective assessment through refined and comprehensive quantification of movements is needed. A motion capture system, such as ViconTM, could better reflect the global and focal variations of abnormal movements. This would be critical for the evaluation of responses to potential treatments. This protocol proposes to investigate a multimodal approach, combining a clinical scale assessment with ViconTM's objective movement measurement. A secondary objective of the study is to assess the effect of coffee on ADCY5-patients. The caffeine contained in coffee acts as a nonselective adenosine receptor antagonist, with a strong affinity for A2A receptors. By blocking A2A receptors, caffeine reduces the enzymatic activity of the altered mutated AC5 protein coded by the mutated ADCY5 gene. This effect could modulate the abnormal movements observed in patients.
Study design
- Primary purpose
- Other
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Double blind (participant, investigator)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Caffeinated coffee | Experimental | Other: caffeinated coffee - decaffeinated coffeeDrink caffeinated coffee one morning and drink decaffeinated coffee the other morning |
| Decaffeinated coffee | Experimental | Other: caffeinated coffee - decaffeinated coffeeDrink decaffeinated coffee one morning and drink caffeinated coffee the other morning |
Who may qualify
- Ages
- 15 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- ADCY5 mutation carriers
- Age > 15 years old and 3 months
- Informed consent from the patient or/ and a legal representative when appropriate
- Affiliated with a social security system or beneficiary of such a regime or by waiver from CPP ( french ethic committee) for patients outside the European union ( EU)
- daily caffeine consumer
Key exclusion criteria (6 listed)
- Hypersensitivity to caffeine or to xanthine derivatives
- Heart condition contraindicating coffee intake
- Liver failure
- Impaired comprehension interfering with an informed consent
- Positive pregnancy test for women of childbearing potential
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| caffeinated coffee - decaffeinated coffeeDrink caffeinated coffee one morning and drink decaffeinated coffee the other morning | Other | Caffeinated coffee, Decaffeinated coffee |
Primary outcome
Quantification movement disorders
Time frame: 24 HOURS
Assessment of correlation between displacement data using the ViconTM system and standardized clinical scales' scores of movements
4 secondary outcomes
Coffee effects
Time frame: 24 Hours
Involuntary scales evaluation
Time frame: 24 Hours
Dyskinesia impairment evaluation
Time frame: 24 Hours
Dyskinesia Rating Scale evaluation
Time frame: 24 Hours
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Aug 2024.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing caffeinated coffee - decaffeinated coffee in people with ADCY5-related Dyskinesia, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 23 Aug 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Quantification movement disorders (time frame: 24 HOURS). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Aug 2024.