An observational study in Non-progressive Congenital Ataxia and Ataxic Cerebral Palsy, sponsored by Vastra Gotaland Region. Recruiting at 7 sites in 7 countries. Open to participants aged 5 Years to 8 Years. Per ClinicalTrials.gov, last updated 2026-08-27.
Sponsored by Vastra Gotaland Region · Observational
This multinational European observational clinical study focuses on non-progressive congenital ataxia (NPCA), a very rare early-onset neurological condition also within the cerebral palsy (CP) concept as ataxic CP. The study aims to improve the diagnosis and care of affected children through a comprehensive approach that integrates detailed clinical assessments, brain imaging analyses, and advanced genetic testing. By identifying developmental trajectories, specific impairment profiles, brain MRI patterns, and genetic variants, the researchers aim to elucidate underlying mechanisms, origins and clinical heterogeneity of NPCA. The study also assesses the broader impact of the condition on the quality of life of affected children and the associated burden on their families. Preliminary data found a high prevalence of cognitive and neuropsychiatric impairments, and a frequent lack of identifiable brain lesions on MRI, raising the hypothesis of a strong genetic contribution.
Non-progressive congenital ataxia (NPCA), also known as ataxic cerebral palsy (CP), is a very rare (0.8 p 10.000 livebirths) early-onset motor disorder characterized by disordered muscular coordination, affecting the force, rhythm, and accuracy of movements. The ARTEMIS clinical study is a European multinational, multicentre, observational study, designed to study the natural history of NPCA, and investigate the clinical, neuroimaging, and genetic characteristics of NPCA. Its collects comprehensive data from children aged 5 to 8 years with a confirmed diagnosis according to the Surveillance of Cerebral Palsy in Europe (SCPE) definition from neonatal period (retrospective data collection) to time of assessment (5 to 8 years of age).
The study involves reference centres across France, Belgium, Denmark, Germany, Greece, Norway, Hungary, and Sweden. The study aims to comprehensively characterize NPCA by assessing clinical impairments, developmental trajectories, brain MRI findings, and genetic data, while also evaluating children's quality of life, parental burden, and healthcare pathways.
352 studies on the registry are indexed under Neurodevelopmental Disorders; 141 are open to participants now.
This study's planned enrollment of 50 is below the median of 200 across 133 observational studies indexed under Neurodevelopmental Disorders.
Browse Neurodevelopmental Disorders studies →Vastra Gotaland Region is the lead sponsor of 275 studies on the registry; 109 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Children, aged 5 to 8 years at time of data collection, with a confirmed diagnosis of NPCA/ataxic CP (according to SCPE criteria), will be identified through university hospitals, regional hospitals, outpatient neurology / rehabilitation clinics, and CP registries, in eight European participating countries (France, Belgium, Denmark, Germany, Greece, Norway, Hungary and Sweden). Recruitment will take place during routine follow-up or planned clinical visits.
Inclusion Criteria: • male or female children
Exclusion Criteria: Children with all other diagnoses of movement disorders or other CP subtypes
-
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Eligible population: male and female children, aged 5 to 8 years at time of clinical examination, with a confirmed diagnosis of non-progressive congenital ataxia (NPCA)/Ataxic cerebral palsy, according to SCPE criteria. Participants are recruited from eight European countries (France, Belgium, Denmark, Germany, Greece, Norway and Sweden) through university and regional hospitals, outpatient neurology/rehabilitation clinics and CP registries. Standardized data collection will include comprehensive clinical evaluation, brain MRI (review of images from neonatal or post neonatal periods), genetic analyses, assessment of children's quality of life and parental psychological health. Genetics: Genomic and transcriptomic analyses Advanced genomic analyses (exome, genome, RNA-seq) performed on existing or newly collected blood samples from children with NPCA/ataxic CP to identify disease-associated variants. This includes re-analysis of existing sequencing data and/or new datasets.
Characterization of NPCA/ataxic CP
Characterization of non-progressive congenital ataxia(NPCA)/ataxic cerebral palsy (CP) through integrated analysis of clinical features, brain imaging, and advanced genomic testing
Time frame: At time of clinical examination, between ages 5 and 8 years, and review of MRI and genetic findings
Clinical characterisation
Characterisation of ataxic features using the Scale for the Assessment and Rating of Ataxia (SARA) score Clinical assessment of ataxic and other motor features includes muscle tone, tremor, balance, spasticity, and dystonia. Evaluation with the (SARA), a validated tool with scores from 0 (no ataxia) to 40 (most severe).
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Cognition and neuropsychiatric features
Composite multidimensional assessment of intelligence or developmental quotient (IQ or DQ), Attention-Deficit/Hyperactivity Disorder (ADHD) and/or Autism Spectrum Disorder (ASD) (according to Diagnostic and Statistical Manual of Mental Disorder V criteria).
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Speech
Impairment profile: Speech is classified using the Viking Speech Scale (VSS) I-IV where level IV is the least functional level
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Communication
Impairment profile: Communication is classified using the the Communication Function Classification System (CFCS) I-V, where level V is the least functional level
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Gross motor function
Gross motor function is classified with the Gross Motor Function Classification System levels I-V, where level V is the least functional level
Time frame: At time of examination at 5 to 8 years of age
Fine motor function
Fine motor function is classified with the Bimanual Fine Motor Function classification (BFMF) levels I-V, where level V is the least functional level
Time frame: At time of examination at 5 to 8 years of age
Manual ability
Manual ability is classified with the Manual Ability Classification System (MACS) level I-V where level V is the least functional level
Time frame: At time of examination at 5 to 8 years of age
Epilepsy
Epilepsy type is documented Focal/generalized/multiple types
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Epilepsy characteristics
:Frequency of seizures last year Seizure-free/seldom or monthly/weekly or daily/cluster or unclear
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Epilepsy treatment
Antiseizure treatment is documented none/monotherapy/Polytherapy/other treatment (surgery, ketogenic diet, vagal nerve stimulation)
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Onset of epilepsy
Age at onset of epilepsy is documented During first year/second year/third year/fourth year/fifth year or later
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Visual impairment
Vision impairments are documented yes/no If yes: severe: yes/no Severe: \<0.1 (Decimal scale) in the better eye after correction
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Hearing impairment
Hearing impairments are documented yes/no If yes: severe yes/no Severe Hearing loss greater than 70 decibel (dB) before correction in the better ear
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Magnetic Resonance Imaging (MRI)
MRI analysis: neuroimaging classification and cerebral/cerebellar volumetry Systematic review of previously acquired (neonatal and/or postneonatal periods) brain MRIs. In the subgroup of children with normal images (group E of the Neonatal Neuroimaging Classification System and Magnetic Resonance Imaging Classification System), in addition cerebellar and cerebral volumetry compared to age- and sex-matched controls to identify structural correlates
Time frame: through study completion, an average of 1 year
Genomic analysis
Identification of disease-associated variants Analysis of existing or newly generated exome/genome sequencing data to identify single nucleotide variants, small insertions/deletions, structural variants, and repeat expansions.
Time frame: through study completion, an average of 1 year
Family interactions with healthcare system and care utilization
Parent questionnaire assessing the child's healthcare journey, including age at first specialist visit, therapies received, multidisciplinary evaluations, access to aids/support, social services, and disability-related resources.
Time frame: through study completion, an average of 1 year
Child´s quality of life (proxy-reported)
Child's quality of life (proxy-reported) using KIDSCREEN-27 Assessment of child's quality of life using the KIDSCREEN-27 questionnaire completed by parents. Includes five domains: physical well-being, psychological well-being, autonomy and parent relations, social support and peers, and school environment. Higher values indicate better quality of life. Population norm mean 50, sd 10.
Time frame: through study completion, an average of 1 year
Perceived family burden (parent report)
Family impact of Childhood Disability (+4) is used to report perceived burden related to time, stress, work, health, finances, and family relationships, assessing impact of child's disability on family well-being. Scores 10-40, higher scores indicate a higher impact on the family.
Time frame: through study completion, an average of 1 year
Parental psychological health (parent report)
Parental psychological health is reported using General Health Questionnaire (GHQ-12) Total score 0-36, higher results indicate that the parents experience psychological distress
Time frame: through study completion, an average of 1 year
Plan to share: Yes — Supporting information
Supporting information: Study protocol
No publications or documents are linked to this record.
Started May 2026 (actual). Primary completion is estimated for Jun 2027, 13 months after the start.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Neurodevelopmental Disorders →