ARTEMIS - The ARTEMIS Cohort

NCT07421219 | Not Yet Recruiting

• 1 other identifier: 825575 - 2023-00546
• Study Type: observational
• Target: 50
• Locations: 7 countries
• Sites: 7

Brief Summary

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.

Conditions

Non-progressive Congenital Ataxia; Ataxic Cerebral Palsy

Keywords

Non-progressive Congenital Ataxia; Ataxic Cerebral Palsy; Genetic etiology; Neuroimaging; Neurodevelopmental disorders; Quality of Life

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (19)

• Clinical characterisation

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

• Cognition and neuropsychiatric features

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

• Speech

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

• Communication

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

• Gross motor function

  At time of examination at 5 to 8 years of age

Study Arms (1)

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.

Eligibility Criteria

• Age: 5 Years - 8 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• 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.

You may qualify if:

• 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

Sponsors & Collaborators

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

Study Sites (7)

KU Leuven

Leuven, Belgium

Location

Aarhus University Hospital

Aarhus, Denmark

Location

Toulouse University Hospital

Toulouse, France

Location

University Hospital Tübingen

Tübingen, Germany

Location

IASO Children's Hospital

Athens, Greece

Location

Vestfold Hospital Trust

Tønsberg, Norway

Location

Queen Silvia Children's Hospital at Sahlgrenska University Hospital

Gothenburg, 416 50, Sweden

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood samples (EDTA) and PAXgene blood samples will be retained for genomic and transcriptomic analyses. Samples may be obtained from affected children and, when available, from parents and similarly affected siblings. DNA will be extracted for whole genome sequencing, and RNA for transcriptome analysis.

MeSH Terms

Conditions

Cerebral Palsy, Ataxic, Autosomal Recessive; Neurodevelopmental Disorders

Condition Hierarchy (Ancestors)

Mental Disorders

Study Officials

• Catherine Arnaud, MD PhD

  University Hospital of Toulouse

  STUDY DIRECTOR

Central Study Contacts

Kate Himmelmann, MD PhD

CONTACT

+46 702225589, +46 722039472; kate.himmelmann@vgregion.se

Catherine Arnaud

CONTACT

+33 05 67 77 12 85; catherine.arnaud@utoulouse.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Coordinating investigator

Study Record Dates

• First Submitted: September 24, 2025
• First Posted: February 19, 2026
• Study Start: April 1, 2026
• Primary Completion (Estimated): October 1, 2027
• Study Completion (Estimated): December 31, 2027
• Last Updated: February 19, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL

Locations

SE (1); FR (1); DK (1); BE (1); DE (1); GR (1); NO (1)