Skip to main content
OpenTrials
Not Yet Recruiting

NCT Number: NCT07421219

ARTEMIS - The ARTEMIS Cohort

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.

Not Yet Recruiting

Trial opening soon.

Get Notified

Key information

Conditions

Non-progressive Congenital Ataxia Ataxic Cerebral Palsy Cerebral Palsy, Ataxic, Autosomal Recessive Mental Disorders Neurodevelopmental Disorders

Age range

5 year–8 year

Sex eligibility

All sexes

Study type

Observational

Primary location

KU Leuven, Leuven, Belgium

Loading trial locations.

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

• male or female children

  • confirmed diagnosis of NPCA/Ataxic CP (SCPE definition)
  • aged ≥ 5 years and ≤ 8 years at time of data collection
  • written informed consent of at least one parent or legal representative in accordance to country regulations, and verbal assent of the child when possible

Exclusion criteria

Children with all other diagnoses of movement disorders or other CP subtypes

-

Treatment and study plan

Primary outcomes

  1. Characterization of NPCA/ataxic CP

    Time frame: At time of clinical examination, between ages 5 and 8 years, and review of MRI and genetic findings

    Characterization of non-progressive congenital ataxia(NPCA)/ataxic cerebral palsy (CP) through integrated analysis of clinical features, brain imaging, and advanced genomic testing

Secondary outcomes

  1. Clinical characterisation

    Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]

    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).

  2. Cognition and neuropsychiatric features

    Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]

    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).

  3. Speech

    Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]

    Impairment profile: Speech is classified using the Viking Speech Scale (VSS) I-IV where level IV is the least functional level

  4. Communication

    Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]

    Impairment profile: Communication is classified using the the Communication Function Classification System (CFCS) I-V, where level V is the least functional level

  5. Gross motor function

    Time frame: At time of examination at 5 to 8 years of age

    Gross motor function is classified with the Gross Motor Function Classification System levels I-V, where level V is the least functional level

  6. Fine motor function

    Time frame: At time of examination at 5 to 8 years of age

    Fine motor function is classified with the Bimanual Fine Motor Function classification (BFMF) levels I-V, where level V is the least functional level

  7. Manual ability

    Time frame: At time of examination at 5 to 8 years of age

    Manual ability is classified with the Manual Ability Classification System (MACS) level I-V where level V is the least functional level

  8. Epilepsy

    Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]

    Epilepsy type is documented Focal/generalized/multiple types

  9. Epilepsy characteristics

    Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]

    :Frequency of seizures last year Seizure-free/seldom or monthly/weekly or daily/cluster or unclear

  10. Epilepsy treatment

    Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]

    Antiseizure treatment is documented none/monotherapy/Polytherapy/other treatment (surgery, ketogenic diet, vagal nerve stimulation)

  11. Onset of epilepsy

    Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]

    Age at onset of epilepsy is documented During first year/second year/third year/fourth year/fifth year or later

  12. Visual impairment

    Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]

    Vision impairments are documented yes/no If yes: severe: yes/no Severe: <0.1 (Decimal scale) in the better eye after correction

  13. Hearing impairment

    Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]

    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

  14. Magnetic Resonance Imaging (MRI)

    Time frame: through study completion, an average of 1 year

    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

  15. Genomic analysis

    Time frame: through study completion, an average of 1 year

    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.

  16. Family interactions with healthcare system and care utilization

    Time frame: through study completion, an average of 1 year

    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.

  17. Child´s quality of life (proxy-reported)

    Time frame: through study completion, an average of 1 year

    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.

  18. Perceived family burden (parent report)

    Time frame: through study completion, an average of 1 year

    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.

  19. Parental psychological health (parent report)

    Time frame: through study completion, an average of 1 year

    Parental psychological health is reported using General Health Questionnaire (GHQ-12) Total score 0-36, higher results indicate that the parents experience psychological distress

Study contacts

Contact information is provided by the study sponsor or research team.

Catherine Arnaud

CONTACT

[email protected]

+33 05 67 77 12 85

Kate Himmelmann, MD PhD

CONTACT

[email protected]

+46 702225589, +46 722039472

Sponsors and collaborators

Lead sponsor

Vastra Gotaland Region

Other Gov

Collaborators

  • Aarhus University Hospital
  • Göteborg University
  • IASO Children's Hospital, Maroussi, Athens, Greece
  • KU Leuven
  • Sahlgrenska University Hospital
  • Sykehuset i Vestfold Hospital Trust
  • University Hospital Tuebingen
  • University Hospital, Toulouse
  • Universität Tübingen

Registry information

Official study title

Non-progressive Congenital Ataxia - Advancing Diagnosis to Enhance Chances for Targeted Therapy

Acronym: ARTEMIS

Important dates

Study start
2026
Primary completion
2027
Study completion
2027
First posted
Feb 19, 2026
Registry last updated
Feb 19, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.