CTNNB1CTNNB1NCT07614126
Study of L-dopa Treatment in Patients With a Neurodevelopmental Disorder (CTNNB1 Gene)
A study testing L-Dopa in people with CTNNB1 and L-DOPA, run by University Hospital, Montpellier at 1 site in France.
Trial summary
Neurodevelopmental disorders (NDD) encompass conditions that impair cognitive and/or emotional development in children, significantly impacting school, social, and family life. They are often linked to genetic causes and, in most cases, lack curative treatment. Read more about this study
- Who is it for?
- Ages 1 year to 15 years
- What is being tested?
- L-Dopa
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 7 participants
- Where
- 1 siteFrance
- Study dates
- 8 Apr 2026to May 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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 1 year to 15 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Aged between 1 and 15 years inclusive,
- Carrier of a pathogenic variant of CTNNB1,
- Patient with dystonia,
- Patient willing to comply with the contraception requirements detailed in the protocol.
Who cannot join
- Contraindication to treatment with L-dopa and carbidopa or any of its excipients,
- Current treatment with L-dopa, dopamine agonist, or dopamine blocker,
- Patients with peptic ulcer disease,
- Patients with open-angle glaucoma,
- Patients with orthostatic hypotension,
- Failure to obtain informed consent signed by both parents or legal guardians and the child's assent, if possible,
Show all 9Show fewer
- Patients not affiliated with or not covered by a social security scheme,
- Individuals participating in another study with an exclusion period still in progress,
- Individuals who are pregnant or wish to become pregnant within 12 months of inclusion.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
CHU de Montpellier
Montpellier, Hérault, 34295
Agathe Roubertie, Pr., +33 4.67.33.01.82, a-roubertie@chu-montpellier.fr
About this study
Official title: Prospective Pilot Study of L-dopa Treatment in Patients With a Neurodevelopmental Disorder Related to a Pathogenic Variant of the CTNNB1 Gene
Neurodevelopmental disorders (NDD) encompass conditions that impair cognitive and/or emotional development in children, significantly impacting school, social, and family life. They are often linked to genetic causes and, in most cases, lack curative treatment. Among these disorders, monoallelic variations in the CTNNB1 gene cause a rare syndrome known as NEDSDV (Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM: 615075). About twenty patients are reported in France. This syndrome is characterized by global developmental delay, intellectual disability, axial hypotonia, autistic traits, microcephaly, and sometimes ocular anomalies. The clinical profile resembles that of cerebral palsy, and CTNNB1 syndrome is considered a genetic form of this condition, accounting for roughly 4% of cases where a gene has been identified.
Motor impairment is a core feature, with a wide range of movement disorders. Research remains limited, except for a recent publication. Dystonic hypertonia of the lower limbs is frequently described, more pronounced distally than proximally, without pyramidal signs. Spasticity is less common. Gait has been poorly studied: it may be absent or, when acquired, unstable, often tiptoe, and sometimes broad-based, resembling ataxia despite the absence of cerebellar signs. These motor features are difficult to detect before one year of age. To date, no longitudinal studies exist on motor or cognitive progression in CTNNB1 patients; available data are cross-sectional and do not suggest cognitive decline.
Read more
From a pathophysiological perspective, the CTNNB1 gene encodes β-catenin, a key protein in cell adhesion and Wnt signaling, involved in cell differentiation and tissue homeostasis. It plays an essential role in embryonic brain development, particularly neuritogenesis and synaptic organization, with a specific impact on dopaminergic structures in the midbrain. Knock-out animal models show severe reduction in dopaminergic neurogenesis. These findings suggest that CTNNB1 anomalies lead to secondary dopaminergic deficits, contributing to clinical signs. The hypothesis is that this deficit could be partially corrected by dopamine supplementation.
Regarding treatment, L-dopa (levodopa), used in dopaminergic disorders, has shown beneficial effects in a CTNNB1 patient. In our neuropediatrics department, two patients treated with L-dopa exhibited notable improvements in alertness, language, and motor skills within two months. These observations support the hypothesis that L-dopa may improve certain motor and non-motor symptoms in these patients.
In summary, CTNNB1 syndrome is a rare form of NDD, clinically similar to cerebral palsy, with complex motor disorders and a probable dopaminergic deficit. Current evidence calls for further research, including longitudinal studies and therapeutic trials targeting the dopaminergic pathway.
- Being tested
- L-Dopa
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
L-DopaDrug
Treatment with L-dopa combined with a peripheral decarboxylase inhibitor (carbidopa) will be introduced gradually over a period of one year from the start of treatment. Motor, cognitive, quality of life and tolerance assessments will be carried out before treatment and at 6 and 12 months.
| Study group | Role | What they receive |
|---|---|---|
| Participant | Experimental | Treatment with L-dopa combined with a peripheral decarboxylase inhibitor (carbidopa) will be introduced gradually over a period of one year from the start of treatment. Motor, cognitive, quality of life and tolerance assessments will be carried out before treatment and at 6 and 12 months. Receives: Drug: L-Dopa |
What is being measured
The primary outcome is the main question the study is designed to answer.
Assessment of motor skills
Change in overall motor score using the GMFM-88 scale before treatment (D1) and at 6 months.
Measured: Baseline and 6 month follow-up visit
Secondary outcomes (10)
Assessment of motor skills
Change in motor skills score using the GMFM-88 scale before treatment (D1) and at 12 months, as well as between 6 months and 12 months
Measured: 6 month follow-up visit and end-of-study visit at 12 months
Assessment of motor skills
Changes in the five motor subscores of the five dimensions of the GMFM-88 scale before treatment (D1), at 6 months and 12 months, and between 6 months and 12 months
Measured: Baseline, 6 month follow-up visit and end-of-study visit at 12 months
Cognitive assessment
Change in developmental scores (Bayley III) from baseline to 12 months after treatment
Measured: Baseline and end-of-study visit at 12 months
Cognitive assessment
Change in cognitive scores (WPPSI or WISC, according to age) from baseline to 12 months after treatment
Measured: Baseline and end-of-study visit at 12 months
Cognitve assessment
Change in adaptive behavior scores (Vineland) from baseline to 12 months after treatment
Measured: Baseline and end-of-study visit at 12 months
Quality of life assessment
Change from baseline to Month 6 and Month 12 in quality of life scores (CP-CHILD)
Measured: Baseline, 6 month follow-up visit and end-of-study visit at 12 months
Quality of life assessment
Change from baseline to Month 6 and Month 12 in Clinical Global Impression of Severity scores (CGI)
Measured: Baseline, 6 month follow-up ans end-of-study visit at 12 months
Assessment of tolerance
Number and severity of adverse events from baseline to Month 12
Measured: From baseline to the end-of-study visit at 12 months (continuous assessment throughout the study period)
Assessment of tolerance
Changes in clinical status based on neurological and osteoarticular examinations from baseline to Month 12
Measured: From baseline to the end-of-study visit at 12 months (continuous assessment throughout the study period)
Assessment of tolerance
Frequency and severity of patient-reported symptoms (diary) from baseline to Month 12
Measured: From baseline to the end-of-study visit at 12 months (continuous assessment throughout the study period)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 May 2026
- Study start8 Apr 2026
- Primary completionDec 2026 (estimated)
- Study completionMay 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (18)Papers the sponsor has linked to this study.
- Other trials for CTNNB1Studies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe 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
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 7 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Collaborators
- PTC Therapeutics
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07614126
- Sponsor's protocol ID
- RECMPL23_0426
- Acronym
- CTNNB1
- Status last verified
- May 2026
- First submitted
- 26 Dec 2025
- Last updated
- 29 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Yu X, Malenka RC. Beta-catenin is critical for dendritic morphogenesis. Nat Neurosci. 2003 Nov;6(11):1169-77. doi: 10.1038/nn1132. Epub 2003 Oct 5.
PubMed 14528308Wang H, Zhao Y, Yang L, Han S, Qi M. Identification of a novel splice mutation in CTNNB1 gene in a Chinese family with both severe intellectual disability and serious visual defects. Neurol Sci. 2019 Aug;40(8):1701-1704. doi: 10.1007/s10072-019-03823-5. Epub 2019 Mar 30.
PubMed 30929091Tucci V, Kleefstra T, Hardy A, Heise I, Maggi S, Willemsen MH, Hilton H, Esapa C, Simon M, Buenavista MT, McGuffin LJ, Vizor L, Dodero L, Tsaftaris S, Romero R, Nillesen WN, Vissers LE, Kempers MJ, Vulto-van Silfhout AT, Iqbal Z, Orlando M, Maccione A, Lassi G, Farisello P, Contestabile A, Tinarelli F, Nieus T, Raimondi A, Greco B, Cantatore D, Gasparini L, Berdondini L, Bifone A, Gozzi A, Wells S, Nolan PM. Dominant beta-catenin mutations cause intellectual disability with recognizable syndromic features. J Clin Invest. 2014 Apr;124(4):1468-82. doi: 10.1172/JCI70372. Epub 2014 Mar 10.
PubMed 24614104Tang M, Miyamoto Y, Huang EJ. Multiple roles of beta-catenin in controlling the neurogenic niche for midbrain dopamine neurons. Development. 2009 Jun;136(12):2027-38. doi: 10.1242/dev.034330. Epub 2009 May 13.
PubMed 19439492Tan WH, Bird LM, Sadhwani A, Barbieri-Welge RL, Skinner SA, Horowitz LT, Bacino CA, Noll LM, Fu C, Hundley RJ, Wink LK, Erickson CA, Barnes GN, Slavotinek A, Jeremy R, Rotenberg A, Kothare SV, Olson HE, Poduri A, Nespeca MP, Chu HC, Willen JM, Haas KF, Weeber EJ, Rufo PA. A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A. 2018 May;176(5):1099-1107. doi: 10.1002/ajmg.a.38457. Epub 2017 Sep 25.
PubMed 28944563Roubertie A, Roze E, Bahi-Buisson N, Payet C, Echenne B, Doummar D. [Treatment of childhood dystonia]. Arch Pediatr. 2010 May;17(5):540-53. doi: 10.1016/j.arcped.2010.02.016. Epub 2010 Apr 1. French.
PubMed 20362421Pipo-Deveza J, Fehlings D, Chitayat D, Yoon G, Sroka H, Tein I. Rationale for dopa-responsive CTNNB1/ss-catenin deficient dystonia. Mov Disord. 2018 Apr;33(4):656-657. doi: 10.1002/mds.27320. Epub 2018 Feb 13. No abstract available.
PubMed 29436745Nouri N, Patel MJ, Joksimovic M, Poulin JF, Anderegg A, Taketo MM, Ma YC, Awatramani R. Excessive Wnt/beta-catenin signaling promotes midbrain floor plate neurogenesis, but results in vacillating dopamine progenitors. Mol Cell Neurosci. 2015 Sep;68:131-42. doi: 10.1016/j.mcn.2015.07.002. Epub 2015 Jul 9.
PubMed 26164566Murase S, Mosser E, Schuman EM. Depolarization drives beta-Catenin into neuronal spines promoting changes in synaptic structure and function. Neuron. 2002 Jul 3;35(1):91-105. doi: 10.1016/s0896-6273(02)00764-x.
PubMed 12123611Mirosevic S, Khandelwal S, Susjan P, Zakelj N, Gosar D, Forstneric V, Lainscek D, Jerala R, Osredkar D. Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature. Int J Mol Sci. 2022 Oct 19;23(20):12564. doi: 10.3390/ijms232012564.
PubMed 36293418Liu J, Xiao Q, Xiao J, Niu C, Li Y, Zhang X, Zhou Z, Shu G, Yin G. Wnt/beta-catenin signalling: function, biological mechanisms, and therapeutic opportunities. Signal Transduct Target Ther. 2022 Jan 3;7(1):3. doi: 10.1038/s41392-021-00762-6.
PubMed 34980884Leguire LE, Komaromy KL, Nairus TM, Rogers GL. Long-term follow-up of L-dopa treatment in children with amblyopia. J Pediatr Ophthalmol Strabismus. 2002 Nov-Dec;39(6):326-30; quiz 345-6. doi: 10.3928/0191-3913-20021101-05.
PubMed 12458842Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, van Bokhoven H, van den Boogaard MJ, Bramswig N, Buttner C, Cremer K, Czeschik JC, Engels H, van Gassen K, Graf E, van Haelst M, He W, Hogue JS, Kempers M, Koolen D, Monroe G, de Munnik S, Pastore M, Reis A, Reuter MS, Tegay DH, Veltman J, Visser G, van Hasselt P, Smeets EE, Vissers L, Wieland T, Wissink W, Yntema H, Zink AM, Strom TM, Ludecke HJ, Kleefstra T, Wieczorek D. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet. 2015 Jan;134(1):97-109. doi: 10.1007/s00439-014-1498-1. Epub 2014 Oct 19.
PubMed 25326669Koy A, Lin JP, Sanger TD, Marks WA, Mink JW, Timmermann L. Advances in management of movement disorders in children. Lancet Neurol. 2016 Jun;15(7):719-735. doi: 10.1016/S1474-4422(16)00132-0. Epub 2016 May 9.
PubMed 27302239Kayumi S, Perez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, Garcia-Minaur S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Miguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernandez-Cuesta MA, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-Francois L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genet Med. 2022 Nov;24(11):2351-2366. doi: 10.1016/j.gim.2022.08.006. Epub 2022 Sep 9.
PubMed 36083290
Study at a glance
From the registry record, last updated by the sponsor on 29 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Pilot Study of L-dopa Treatment in Patients With a Neurodevelopmental Disorder Related to a Pathogenic Variant of the CTNNB1 Gene
- ClinicalTrials.gov ID
- NCT07614126
- Acronym / sponsor ID
- CTNNB1 / RECMPL23_0426
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 7 participants (estimated)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Collaborators
- PTC Therapeutics
- Study start
- 8 Apr 2026 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- May 2027 (estimated)
- First posted
- 29 May 2026 (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.
Neurodevelopmental disorders (NDD) encompass conditions that impair cognitive and/or emotional development in children, significantly impacting school, social, and family life. They are often linked to genetic causes and, in most cases, lack curative treatment. Among these disorders, monoallelic variations in the CTNNB1 gene cause a rare syndrome known as NEDSDV (Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM: 615075). About twenty patients are reported in France. This syndrome is characterized by global developmental delay, intellectual disability, axial hypotonia, autistic traits, microcephaly, and sometimes ocular anomalies. The clinical profile resembles that of cerebral palsy, and CTNNB1 syndrome is considered a genetic form of this condition, accounting for roughly 4% of cases where a gene has been identified.
Motor impairment is a core feature, with a wide range of movement disorders. Research remains limited, except for a recent publication. Dystonic hypertonia of the lower limbs is frequently described, more pronounced distally than proximally, without pyramidal signs. Spasticity is less common. Gait has been poorly studied: it may be absent or, when acquired, unstable, often tiptoe, and sometimes broad-based, resembling ataxia despite the absence of cerebellar signs. These motor features are difficult to detect before one year of age. To date, no longitudinal studies exist on motor or cognitive progression in CTNNB1 patients; available data are cross-sectional and do not suggest cognitive decline.
From a pathophysiological perspective, the CTNNB1 gene encodes β-catenin, a key protein in cell adhesion and Wnt signaling, involved in cell differentiation and tissue homeostasis. It plays an essential role in embryonic brain development, particularly neuritogenesis and synaptic organization, with a specific impact on dopaminergic structures in the midbrain. Knock-out animal models show severe reduction in dopaminergic neurogenesis. These findings suggest that CTNNB1 anomalies lead to secondary dopaminergic deficits, contributing to clinical signs. The hypothesis is that this deficit could be partially corrected by dopamine supplementation.
Regarding treatment, L-dopa (levodopa), used in dopaminergic disorders, has shown beneficial effects in a CTNNB1 patient. In our neuropediatrics department, two patients treated with L-dopa exhibited notable improvements in alertness, language, and motor skills within two months. These observations support the hypothesis that L-dopa may improve certain motor and non-motor symptoms in these patients.
In summary, CTNNB1 syndrome is a rare form of NDD, clinically similar to cerebral palsy, with complex motor disorders and a probable dopaminergic deficit. Current evidence calls for further research, including longitudinal studies and therapeutic trials targeting the dopaminergic pathway.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participant | Experimental | Drug: L-DopaTreatment with L-dopa combined with a peripheral decarboxylase inhibitor (carbidopa) will be introduced gradually over a period of one year from the start of treatment. Motor, cognitive, quality of life and tolerance assessments will be carried out before treatment and at 6 and 12 months. |
Who may qualify
- Ages
- 1 year to 15 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- Aged between 1 and 15 years inclusive,
- Carrier of a pathogenic variant of CTNNB1,
- Patient with dystonia,
- Patient willing to comply with the contraception requirements detailed in the protocol.
Key exclusion criteria (9 listed)
- Contraindication to treatment with L-dopa and carbidopa or any of its excipients,
- Current treatment with L-dopa, dopamine agonist, or dopamine blocker,
- Patients with peptic ulcer disease,
- Patients with open-angle glaucoma,
- Patients with orthostatic hypotension,
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 |
|---|---|---|
| L-DopaTreatment with L-dopa combined with a peripheral decarboxylase inhibitor (carbidopa) will be introduced gradually over a period of one year from the start of treatment. Motor, cognitive, quality of life and tolerance assessments will be carried out before treatment and at 6 and 12 months. | Drug | Participant |
Primary outcome
Assessment of motor skills
Time frame: Baseline and 6 month follow-up visit
Change in overall motor score using the GMFM-88 scale before treatment (D1) and at 6 months.
10 secondary outcomes
Assessment of motor skills
Time frame: 6 month follow-up visit and end-of-study visit at 12 months
Assessment of motor skills
Time frame: Baseline, 6 month follow-up visit and end-of-study visit at 12 months
Cognitive assessment
Time frame: Baseline and end-of-study visit at 12 months
Cognitive assessment
Time frame: Baseline and end-of-study visit at 12 months
Cognitve assessment
Time frame: Baseline and end-of-study visit at 12 months
Quality of life assessment
Time frame: Baseline, 6 month follow-up visit and end-of-study visit at 12 months
Quality of life assessment
Time frame: Baseline, 6 month follow-up ans end-of-study visit at 12 months
Assessment of tolerance
Time frame: From baseline to the end-of-study visit at 12 months (continuous assessment throughout the study period)
Assessment of tolerance
Time frame: From baseline to the end-of-study visit at 12 months (continuous assessment throughout the study period)
Assessment of tolerance
Time frame: From baseline to the end-of-study visit at 12 months (continuous assessment throughout the study period)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 May 2026.
- Background: PubMed 14528308Yu X, Malenka RC. Beta-catenin is critical for dendritic morphogenesis. Nat Neurosci. 2003 Nov;6(11):1169-77. doi: 10.1038/nn1132. Epub 2003 Oct 5.
- Background: PubMed 30929091Wang H, Zhao Y, Yang L, Han S, Qi M. Identification of a novel splice mutation in CTNNB1 gene in a Chinese family with both severe intellectual disability and serious visual defects. Neurol Sci. 2019 Aug;40(8):1701-1704. doi: 10.1007/s10072-019-03823-5. Epub 2019 Mar 30.
- Background: PubMed 24614104Tucci V, Kleefstra T, Hardy A, Heise I, Maggi S, Willemsen MH, Hilton H, Esapa C, Simon M, Buenavista MT, McGuffin LJ, Vizor L, Dodero L, Tsaftaris S, Romero R, Nillesen WN, Vissers LE, Kempers MJ, Vulto-van Silfhout AT, Iqbal Z, Orlando M, Maccione A, Lassi G, Farisello P, Contestabile A, Tinarelli F, Nieus T, Raimondi A, Greco B, Cantatore D, Gasparini L, Berdondini L, Bifone A, Gozzi A, Wells S, Nolan PM. Dominant beta-catenin mutations cause intellectual disability with recognizable syndromic features. J Clin Invest. 2014 Apr;124(4):1468-82. doi: 10.1172/JCI70372. Epub 2014 Mar 10.
- Background: PubMed 19439492Tang M, Miyamoto Y, Huang EJ. Multiple roles of beta-catenin in controlling the neurogenic niche for midbrain dopamine neurons. Development. 2009 Jun;136(12):2027-38. doi: 10.1242/dev.034330. Epub 2009 May 13.
- Background: PubMed 28944563Tan WH, Bird LM, Sadhwani A, Barbieri-Welge RL, Skinner SA, Horowitz LT, Bacino CA, Noll LM, Fu C, Hundley RJ, Wink LK, Erickson CA, Barnes GN, Slavotinek A, Jeremy R, Rotenberg A, Kothare SV, Olson HE, Poduri A, Nespeca MP, Chu HC, Willen JM, Haas KF, Weeber EJ, Rufo PA. A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A. 2018 May;176(5):1099-1107. doi: 10.1002/ajmg.a.38457. Epub 2017 Sep 25.
- Background: PubMed 20362421Roubertie A, Roze E, Bahi-Buisson N, Payet C, Echenne B, Doummar D. [Treatment of childhood dystonia]. Arch Pediatr. 2010 May;17(5):540-53. doi: 10.1016/j.arcped.2010.02.016. Epub 2010 Apr 1. French.
- Background: PubMed 29436745Pipo-Deveza J, Fehlings D, Chitayat D, Yoon G, Sroka H, Tein I. Rationale for dopa-responsive CTNNB1/ss-catenin deficient dystonia. Mov Disord. 2018 Apr;33(4):656-657. doi: 10.1002/mds.27320. Epub 2018 Feb 13. No abstract available.
- Background: PubMed 26164566Nouri N, Patel MJ, Joksimovic M, Poulin JF, Anderegg A, Taketo MM, Ma YC, Awatramani R. Excessive Wnt/beta-catenin signaling promotes midbrain floor plate neurogenesis, but results in vacillating dopamine progenitors. Mol Cell Neurosci. 2015 Sep;68:131-42. doi: 10.1016/j.mcn.2015.07.002. Epub 2015 Jul 9.
- Background: PubMed 12123611Murase S, Mosser E, Schuman EM. Depolarization drives beta-Catenin into neuronal spines promoting changes in synaptic structure and function. Neuron. 2002 Jul 3;35(1):91-105. doi: 10.1016/s0896-6273(02)00764-x.
- Background: PubMed 36293418Mirosevic S, Khandelwal S, Susjan P, Zakelj N, Gosar D, Forstneric V, Lainscek D, Jerala R, Osredkar D. Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature. Int J Mol Sci. 2022 Oct 19;23(20):12564. doi: 10.3390/ijms232012564.
- Background: PubMed 34980884Liu J, Xiao Q, Xiao J, Niu C, Li Y, Zhang X, Zhou Z, Shu G, Yin G. Wnt/beta-catenin signalling: function, biological mechanisms, and therapeutic opportunities. Signal Transduct Target Ther. 2022 Jan 3;7(1):3. doi: 10.1038/s41392-021-00762-6.
- Background: PubMed 12458842Leguire LE, Komaromy KL, Nairus TM, Rogers GL. Long-term follow-up of L-dopa treatment in children with amblyopia. J Pediatr Ophthalmol Strabismus. 2002 Nov-Dec;39(6):326-30; quiz 345-6. doi: 10.3928/0191-3913-20021101-05.
- Individual participant dataSharing planned: No
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing L-Dopa in people with CTNNB1 and L-DOPA, run by University Hospital, Montpellier 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 4 inclusion and 9 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: looking for participants now, as of the sponsor's last update on 29 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. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Agathe Roubertie, Pr. (+33 4.67.33.01.82, a-roubertie@chu-montpellier.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Assessment of motor skills (time frame: Baseline and 6 month follow-up visit). 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 NCT07614126, which also lists 18 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 29 May 2026.