ARTEMIS - The ARTEMIS Cohort (ARTEMIS)

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

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Ataxic Cerebral Palsy; Non-progressive Congenital Ataxia

Detailed Description

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.

• Study Type: Observational
• Enrollment (Estimated): 50

Contacts and Locations

• Study Contact: Name: Kate Himmelmann, MD PhD; Phone Number: +46 702225589, +46 722039472; Email: kate.himmelmann@vgregion.se
• Study Contact Backup: Name: Catherine Arnaud; Phone Number: +33 05 67 77 12 85; Email: catherine.arnaud@utoulouse.fr

Study Locations

• Belgium
  • Leuven, Belgium
    • KU Leuven
    • Contact: Els Ortibus, MD PhD; Email: els.ortibus@uzleuven.be
    • Contact: Joke Opdenacker; Email: joke opdenacker <joke.opdenacker@kuleuven.be>
• Denmark
  • Aarhus, Denmark
    • Aarhus University Hospital
    • Contact: Gija Rackauskaite, MD PhD; Email: Gija Rackauskaite <gija.rackauskaite@auh.rm.dk>
• France
  • Toulouse, France
    • Toulouse University Hospital
    • Contact: Catherine Arnaud; Phone Number: +33 05 67 77 12 85; Email: catherine.arnaud@utoulouse.fr
    • Contact: Caroline Karsenty; Phone Number: +33; Email: karsenty.c@chu-toulouse.fr
• Germany
  • Tübingen, Germany
    • University Hospital Tübingen
    • Contact: Veronka Horber, MD; Phone Number: +49 17209276720; Email: veronka.horber@med.uni-tuebingen.de
    • Contact: Janine Magg; Email: janine.magg@med.uni-tuebingen
• Greece
  • Athens, Greece
    • IASO Children's Hospital
    • Contact: Antigone Papavasiliou, MD PhD; Email: theon@otenet.gr
    • Contact: Nikoletta Smyrni, MD; Email: nicolsmy7@gmail.com
• Norway
  • Tønsberg, Norway
    • Vestfold Hospital Trust
    • Contact: Guro L Andersen, MD PhD; Email: Guro.Andersen@siv.no
    • Contact: Sandra Julsen Hollung, PhD; Email: sandra.julsen.hollung@siv.no
• Sweden
  • Gothenburg, Sweden, 416 50
    • Queen Silvia Children's Hospital at Sahlgrenska University Hospital
    • Contact: Kate Himmelmann, MD PhD; Phone Number: +31 702 225589, +31 722039472; Email: kate.himmelmann@vgregion.se
    • Contact: Magnus Påhlman, MD PhD; Phone Number: +31 703 91 35 61; Email: magnus.pahlman@vgregion.se

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

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

-

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Children with non-progressive congenital ataxia (NPCA); 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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	At time of clinical examination, between ages 5 and 8 years, and review of MRI and genetic findings

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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: 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: 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: 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: 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	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	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	At time of examination at 5 to 8 years of age
Epilepsy	Epilepsy type is documented Focal/generalized/multiple types	[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: 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: 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: 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: 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: 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	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.	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.	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.	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.	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	through study completion, an average of 1 year

Collaborators and Investigators

• Sponsor: Vastra Gotaland Region
• Collaborators: Göteborg University; Aarhus University Hospital; KU Leuven; University Hospital, Toulouse; University Hospital Tuebingen; Sykehuset i Vestfold Hospital Trust; Universität Tübingen; Sahlgrenska University Hospital; IASO Children's Hospital, Maroussi, Athens, Greece
• Investigators: Study Director: Catherine Arnaud, MD PhD, University Hospital of Toulouse

Study record dates

Study Major Dates

• Study Start (Estimated): April 1, 2026
• Primary Completion (Estimated): October 1, 2027
• Study Completion (Estimated): December 31, 2027

Study Registration Dates

• First Submitted: September 24, 2025
• First Submitted That Met QC Criteria: February 11, 2026
• First Posted (Actual): February 19, 2026

Study Record Updates

• Last Update Posted (Actual): February 19, 2026
• Last Update Submitted That Met QC Criteria: February 11, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Keywords: Quality of Life; Neuroimaging; Genetic etiology; Neurodevelopmental disorders; Ataxic Cerebral Palsy; Non-progressive Congenital Ataxia
• Additional Relevant MeSH Terms: Mental Disorders; Neurodevelopmental Disorders; Cerebral Palsy, Ataxic, Autosomal Recessive
• Other Study ID Numbers: 825575 - 2023-00546

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Supporting information
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No