NCT07421219

ARTEMIS - The ARTEMIS Cohort

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

• Status: Not Yet Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 50 (estimated)
• Sponsor: Vastra Gotaland Region · Other Government
• Sex: All
• Age: 5 Years – 8 Years
• Healthy volunteers: Not accepted

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.

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.

Conditions

• Non-progressive Congenital Ataxia
• Ataxic Cerebral Palsy

Timeline

• Start date: 2026-04-01
• Primary completion: 2027-10-01
• Completion: 2027-12-31
• First posted: 2026-02-19
• Last updated: 2026-02-19

Locations

7 sites across 7 countries: Belgium, Denmark, France, Germany, Greece, Norway, Sweden