ARTEMIS - The ARTEMIS Cohort

ConditionsNon-progressive Congenital Ataxia Ataxic Cerebral Palsy

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

Age5-8

SponsorVastra Gotaland Region

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

None

Trial 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.

Trial design

Design model

Cohort

Time perspective

Retrospective

Treatments tested in this trial

Not listed

Trial groups

50 Participants

are grouped into 1 trial group

Group A: Children with non-progressive congenital ataxia (NPCA)

Trial outcomes

Primary outcomes

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

Secondary outcomes

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]