Rubinstein-Taybi SyndromePhase 2RUBIVALNCT01619644
Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial
A Phase 2 study testing sodium valproate in people with Rubinstein-Taybi Syndrome, run by University Hospital, Bordeaux at 1 site in France.
Trial summary
An exploratory phase 2 therapeutic trial in children from 6 to 21, RTS carriers, randomized to be treated either with sodium valproate with the usual pediatric dosage (30 mg/kg/j), or by placebo for one year. Read more about this study
- Who is it for?
- Ages 6 to 21 years
- Conditions the study is for
- Rubinstein-Taybi Syndrome
- What is being tested?
- sodium valproate
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 41 participants
- Where
- 1 siteFrance
- Study dates
- Apr 2012to Sep 2014
- Phase
- Phase 2
- 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 6 to 21 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Children over 6 and under 21
- RTS confirmed by a genetic study with a CBP gene or EP300 gene mutation
- Sufficient cognitive capacities for neuropsychological evaluation
- Free and informed consent of the parents or guardians
- Children affiliated to or benefiting of the French social welfare system
Who cannot join
- Contraindication to sodium valproate
- Women of reproductive age without effective contraception means
- Case history of sodium valproate treatment
- Monotherapy treatment for epilepsy with Lamictal with a dosage superior to 5 mg/kg/j
- Family history of severe hepatitis including drug
- Acute or chronic hepatitis
- Pregnancy
Trial locations and contacts
1 site in 1 country.
About this study
An exploratory phase 2 therapeutic trial in children from 6 to 21, RTS carriers, randomized to be treated either with sodium valproate with the usual pediatric dosage (30 mg/kg/j), or by placebo for one year.
The investigator would like to include children because they could best profit from it due to their neuronal plasticity as CBP and EP300 take effect through neuronal and synaptic plasticity.
The therapeutic effect of sodium valproate in RTS patients will be assessed thanks to a clinical approach (learning and memory neuropsychological evaluation, fine motor skills assessment by pointing), to a biological approach (histone acetylation functional tests), and to imaging (morphological and functional MRI).
Read the detailed description
Such a multidisciplinary approach has never been presented for this syndrome; it should enable us identifying specific cognitive and motor deficits and their association thanks to imaging markers. Assessing the various aspects of motor skills, i.e. primary (movements, standing at ease position, immobility) and complex motor skills (actions and behaviours, motor aspects of feelings and language expressions) is an integral part of the clinical examination in psychiatrics.
The main interest of a functional capacity analysis is to be used as an index allowing the assessment of the nervous system's global capacities and the study of the connections between cognitive functions and motor skills Main objective: Evaluate long term memory with subtest "point location" - CMS and "image recognition" RBMT A patient is said to be responder if after one year his or her test result increase for one point at least one of the two tests : a increase of one point to "point location" or "image recognition".
Double-blind phase 2 clinical trial, designed as a one-step Fleming design but with a control group. Rubival is a two-parallel group randomized trial:
- a placebo group of 20 patients
- a group of 40 patients taking sodium valproate (HDAC inhibitor) with an oral dosage of 30 mg/kg/jour
- Conditions
- Rubinstein-Taybi Syndrome
- Being tested
- sodium valproate, Placebo
- Keywords
- RTS, Rubinstein Taybi, explorative phase 2, clinical approach, biological approach, motor skills
- Medical subject headings
- Rubinstein-Taybi Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
sodium valproateDrug
sodium valproate (HDAC inhibitor) with an oral dosage of 30 mg/kg/jour
PlaceboDrug
Placebo with an oral dosage of 30 mg/kg/jour
| Study group | Role | What they receive |
|---|---|---|
| Sodium Valproate | Experimental | Group of 40 patients receiving one year of sodium valproate Receives: Drug: sodium valproate |
| Placebo | Placebo comparator | Group of 20 patients receiving one year of placebo Receives: Drug: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
Memory tests (assessing memory learning)
The main outcome measure was to evaluate long term memory with two subtests :
- point location, subtest of CMS (children memory scale). The score ranges from 0 to 6
- image recognition, subtest of RBMT (Rivermead Behavioural Memory Test). The score range from 0 to 10. One point for each image recognized A patient is said to be responder if after one year of treatment , his or her test result increase for one point at least one of the two tests
Measured: 1 year
Secondary outcomes (6)
Special brain imaging profile and motor skills (posturology and motor coordination in a visio-manual pointing task)
For motor skills, the profile was based on 3 tasks : posturology, motor coordination in a visuo-manual pointing task and in mobile interception task..
For brain imaging, a variety of outcome measures will be used for example, brain volume, anisotropy fraction, diffusion coefficient for structural magnetic imaging and the signal intensity for functional Magnetic Resonance Imaging
Measured: 1 year
Cognitive and developmental profile
Based on the results of several battery test and evaluation scale, VABS II (Vineland Adaptative Behaviour Scale II), Leiter R, EVIP, ECOSSE, NEPSY : fluency verbal sutest, CMS : 2 subtests, RBMT : 1 subtest
Measured: 1 year
Histone acetylation profile
Measured: 1 year
Global acetylation level
Measured: 1 year
Acetylation level of selected gene
Measured: 1 year
Measurement of selected gene expression
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jun 2012 (estimated)
- Study startApr 2012
- Primary completionSep 2014
- Study completionSep 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Rubinstein-Taybi SyndromeStudies of the same condition, open and under way.
- More trials run by University Hospital, BordeauxThe 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 2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 41 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Collaborators
- Fondation Syndrome de Rubinstein-Taybi
- Responsible party
- Sponsor
- Investigators
- Didier LACOMBE, PU-PH, Principal investigator, University Hospital Bordeaux, FrancePaul PEREZ, PH, Study chair, University Hospital Bordeaux, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01619644
- Sponsor's protocol ID
- CHUBX 2011/20
- Other IDs
- 2011-003784-30
- Acronym
- RUBIVAL
- Status last verified
- Mar 2015
- First submitted
- 12 Jun 2012
- Last updated
- 14 May 2026
- Results posted
- No
- Data monitoring committee
- Yes
Publications
Coupry I, Monnet L, Attia AA, Taine L, Lacombe D, Arveiler B. Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR. Hum Mutat. 2004 Mar;23(3):278-84. doi: 10.1002/humu.20001.
PubMed 14974086Cazalets JR, Bestaven E, Doat E, Baudier MP, Gallot C, Amestoy A, Bouvard M, Guillaud E, Guillain I, Grech E, Van-Gils J, Fergelot P, Fraisse S, Taupiac E, Arveiler B, Lacombe D. Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome. J Autism Dev Disord. 2017 Nov;47(11):3321-3332. doi: 10.1007/s10803-017-3259-1.
PubMed 28748333
Study at a glance
From the registry record, last updated by the sponsor on 14 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial
- ClinicalTrials.gov ID
- NCT01619644
- Acronym / sponsor ID
- RUBIVAL / CHUBX 2011/20
- Conditions
- Rubinstein-Taybi Syndrome
- Keywords
- RTS, Rubinstein Taybi, explorative phase 2, clinical approach, biological approach, motor skills
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 41 participants (actual)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Collaborators
- Fondation Syndrome de Rubinstein-Taybi
- Study start
- Apr 2012
- Primary completion
- Sep 2014 (actual)
- Study completion
- Sep 2014 (actual)
- First posted
- 14 Jun 2012 (estimated)
- 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.
An exploratory phase 2 therapeutic trial in children from 6 to 21, RTS carriers, randomized to be treated either with sodium valproate with the usual pediatric dosage (30 mg/kg/j), or by placebo for one year.
The investigator would like to include children because they could best profit from it due to their neuronal plasticity as CBP and EP300 take effect through neuronal and synaptic plasticity.
The therapeutic effect of sodium valproate in RTS patients will be assessed thanks to a clinical approach (learning and memory neuropsychological evaluation, fine motor skills assessment by pointing), to a biological approach (histone acetylation functional tests), and to imaging (morphological and functional MRI).
Detailed description
Such a multidisciplinary approach has never been presented for this syndrome; it should enable us identifying specific cognitive and motor deficits and their association thanks to imaging markers. Assessing the various aspects of motor skills, i.e. primary (movements, standing at ease position, immobility) and complex motor skills (actions and behaviours, motor aspects of feelings and language expressions) is an integral part of the clinical examination in psychiatrics.
The main interest of a functional capacity analysis is to be used as an index allowing the assessment of the nervous system's global capacities and the study of the connections between cognitive functions and motor skills Main objective: Evaluate long term memory with subtest "point location" - CMS and "image recognition" RBMT A patient is said to be responder if after one year his or her test result increase for one point at least one of the two tests : a increase of one point to "point location" or "image recognition".
Double-blind phase 2 clinical trial, designed as a one-step Fleming design but with a control group. Rubival is a two-parallel group randomized trial:
- a placebo group of 20 patients
- a group of 40 patients taking sodium valproate (HDAC inhibitor) with an oral dosage of 30 mg/kg/jour
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Sodium Valproate | Experimental | Drug: sodium valproateGroup of 40 patients receiving one year of sodium valproate |
| Placebo | Placebo comparator | Drug: PlaceboGroup of 20 patients receiving one year of placebo |
Who may qualify
- Ages
- 6 to 21 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (5 listed)
- Children over 6 and under 21
- RTS confirmed by a genetic study with a CBP gene or EP300 gene mutation
- Sufficient cognitive capacities for neuropsychological evaluation
- Free and informed consent of the parents or guardians
- Children affiliated to or benefiting of the French social welfare system
Key exclusion criteria (7 listed)
- Contraindication to sodium valproate
- Women of reproductive age without effective contraception means
- Case history of sodium valproate treatment
- Monotherapy treatment for epilepsy with Lamictal with a dosage superior to 5 mg/kg/j
- Family history of severe hepatitis including drug
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 |
|---|---|---|
| sodium valproatesodium valproate (HDAC inhibitor) with an oral dosage of 30 mg/kg/jour | Drug | Sodium Valproate |
| PlaceboPlacebo with an oral dosage of 30 mg/kg/jour | Drug | Placebo |
Primary outcome
Memory tests (assessing memory learning)
Time frame: 1 year
The main outcome measure was to evaluate long term memory with two subtests : * point location, subtest of CMS (children memory scale). The score ranges from 0 to 6 * image recognition, subtest of RBMT (Rivermead Behavioural Memory Test). The score range from 0 to 10. One point for each image recognized A patient is said to be responder if after one year of treatment , his or her test result increase for one point at least one of the two tests
6 secondary outcomes
Special brain imaging profile and motor skills (posturology and motor coordination in a visio-manual pointing task)
Time frame: 1 year
Cognitive and developmental profile
Time frame: 1 year
Histone acetylation profile
Time frame: 1 year
Global acetylation level
Time frame: 1 year
Acetylation level of selected gene
Time frame: 1 year
Measurement of selected gene expression
Time frame: 1 year
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 14 May 2026.
- Background: PubMed 14974086Coupry I, Monnet L, Attia AA, Taine L, Lacombe D, Arveiler B. Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR. Hum Mutat. 2004 Mar;23(3):278-84. doi: 10.1002/humu.20001.
- Results publication: PubMed 28748333Cazalets JR, Bestaven E, Doat E, Baudier MP, Gallot C, Amestoy A, Bouvard M, Guillaud E, Guillain I, Grech E, Van-Gils J, Fergelot P, Fraisse S, Taupiac E, Arveiler B, Lacombe D. Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome. J Autism Dev Disord. 2017 Nov;47(11):3321-3332. doi: 10.1007/s10803-017-3259-1.
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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.
Didier LACOMBE, PU-PH principal investigator
University Hospital Bordeaux, France
Paul PEREZ, PH study chair
University Hospital Bordeaux, France
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing sodium valproate in people with Rubinstein-Taybi Syndrome, run by University Hospital, Bordeaux 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 7 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 14 May 2026. 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. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
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?
Memory tests (assessing memory learning) (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01619644, which also lists 2 linked publications.
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 14 May 2026.