Non-progressive Congenital AtaxiaARTEMISNCT07421219
ARTEMIS - The ARTEMIS Cohort
An observational study of Non-progressive Congenital Ataxia and Ataxic Cerebral Palsy, run by Vastra Gotaland Region at 7 sites in 7 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 5 to 8 years
- Conditions the study is for
- Non-progressive Congenital Ataxia, Ataxic Cerebral Palsy
- How many people
- 50 participants
- Where
- 7 sitesin 7 countries
- Study dates
- 15 May 2026to 31 Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 to 8 years
- All sexes
- No healthy volunteers
- Child
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.
Who may be able to join
- 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
- -
Who cannot join
None listed.
Trial locations and contacts
7 sites in 7 countries. Contact the study team or a site near you to ask about taking part.
7 sites in 7 countries
Belgium1 site, 1 recruiting
- Not yet recruiting
KU Leuven
Leuven
Els Ortibus, MD PhD, els.ortibus@uzleuven.be
Joke Opdenacker, joke opdenacker <joke.opdenacker@kuleuven.be>
Denmark1 site, 1 recruiting
- Not yet recruiting
Aarhus University Hospital
Aarhus
Gija Rackauskaite, MD PhD, Gija Rackauskaite <gija.rackauskaite@auh.rm.dk>
France1 site, 1 recruiting
- Not yet recruiting
Toulouse University Hospital
Toulouse
Caroline Karsenty, +33, karsenty.c@chu-toulouse.fr
Catherine Arnaud, +33 05 67 77 12 85, catherine.arnaud@utoulouse.fr
Germany1 site, 1 recruiting
- Recruiting
University Hospital Tübingen
Tübingen
Veronka Horber, MD, +49 17209276720, veronka.horber@med.uni-tuebingen.de
Janine Magg, janine.magg@med.uni-tuebingen
Greece1 site, 1 recruiting
- Not yet recruiting
IASO Children's Hospital
Athens
Antigone Papavasiliou, MD PhD, theon@otenet.gr
Nikoletta Smyrni, MD, nicolsmy7@gmail.com
Norway1 site, 1 recruiting
- Not yet recruiting
Vestfold Hospital Trust
Tønsberg
Guro L Andersen, MD PhD, Guro.Andersen@siv.no
Sandra Julsen Hollung, PhD, sandra.julsen.hollung@siv.no
Sweden1 site, 1 recruiting
- Recruiting
Queen Silvia Children's Hospital at Sahlgrenska University Hospital
Gothenburg, 416 50
Kate Himmelmann, MD PhD, +31 702 225589, +31 722039472, kate.himmelmann@vgregion.se
Magnus Påhlman, MD PhD, +31 703 91 35 61, magnus.pahlman@vgregion.se
About this study
Official title: 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.
Read the 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.
- Keywords
- Non-progressive Congenital Ataxia, Ataxic Cerebral Palsy, Genetic etiology, Neuroimaging, Neurodevelopmental disorders, Quality of Life
- Medical subject headings
- Cerebral Palsy, Ataxic, Autosomal Recessive, Neurodevelopmental Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: At time of clinical examination, between ages 5 and 8 years, and review of MRI and genetic findings
Secondary outcomes (19)
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).
Measured: [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).
Measured: [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
Measured: [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
Measured: [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
Measured: 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
Measured: 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
Measured: At time of examination at 5 to 8 years of age
Epilepsy
Epilepsy type is documented Focal/generalized/multiple types
Measured: [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
Measured: [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)
Measured: [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
Measured: [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
Measured: [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
Measured: [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
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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
Measured: through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Feb 2026
- Study start15 May 2026
- Primary completionJun 2027 (estimated)
- Study completion31 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Non-progressive Congenital AtaxiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Vastra Gotaland Region
- Sponsor type
- Other government
- Collaborators
- University Hospital, Toulouse, Universität Tübingen, University Hospital Tuebingen, Sykehuset i Vestfold Hospital Trust, Aarhus University Hospital, KU Leuven, Sahlgrenska University Hospital, Göteborg University, IASO Children's Hospital, Maroussi, Athens, Greece
- Responsible party
- Principal investigator, Kate Himmelmann, Vastra Gotaland Region
- Investigators
- Catherine Arnaud, MD PhD, Study director, University Hospital of Toulouse
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07421219
- Sponsor's protocol ID
- 825575 - 2023-00546
- Acronym
- ARTEMIS
- Status last verified
- Aug 2026
- First submitted
- 24 Sep 2025
- Last updated
- 27 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Supporting information
Study at a glance
From the registry record, last updated by the sponsor on 27 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Non-progressive Congenital Ataxia - Advancing Diagnosis to Enhance Chances for Targeted Therapy
- ClinicalTrials.gov ID
- NCT07421219
- Acronym / sponsor ID
- ARTEMIS / 825575 - 2023-00546
- Keywords
- Non-progressive Congenital Ataxia, Ataxic Cerebral Palsy, Genetic etiology, Neuroimaging, Neurodevelopmental disorders, Quality of Life
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Vastra Gotaland RegionOther government
- Collaborators
- University Hospital, Toulouse, Universität Tübingen, University Hospital Tuebingen, Sykehuset i Vestfold Hospital Trust, Aarhus University Hospital, KU Leuven, Sahlgrenska University Hospital, Göteborg University, IASO Children's Hospital, Maroussi, Athens, Greece
- Study start
- 15 May 2026 (actual)
- Primary completion
- Jun 2027 (estimated)
- Study completion
- 31 Dec 2027 (estimated)
- First posted
- 19 Feb 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 5 to 8 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- 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.
Key inclusion criteria (5 listed)
- 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
- -
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
19 secondary outcomes
Clinical characterisation
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Cognition and neuropsychiatric features
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Speech
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Communication
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Gross motor function
Time frame: At time of examination at 5 to 8 years of age
Fine motor function
Time frame: At time of examination at 5 to 8 years of age
Manual ability
Time frame: At time of examination at 5 to 8 years of age
Epilepsy
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Epilepsy characteristics
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Epilepsy treatment
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Onset of epilepsy
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Visual impairment
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Hearing impairment
Time frame: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]
Magnetic Resonance Imaging (MRI)
Time frame: through study completion, an average of 1 year
Genomic analysis
Time frame: through study completion, an average of 1 year
Family interactions with healthcare system and care utilization
Time frame: through study completion, an average of 1 year
Child´s quality of life (proxy-reported)
Time frame: through study completion, an average of 1 year
Perceived family burden (parent report)
Time frame: through study completion, an average of 1 year
Parental psychological health (parent report)
Time frame: through study completion, an average of 1 year
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Aug 2026.
- Individual participant dataSharing planned: Yes. Supporting information
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Catherine Arnaud, MD PhD study director
University Hospital of Toulouse
7 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Non-progressive Congenital Ataxia and Ataxic Cerebral Palsy, run by Vastra Gotaland Region at 7 sites in 7 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 27 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in Belgium, Denmark, France, Germany, Greece and 2 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Kate Himmelmann, MD PhD (+46 702225589, +46 722039472, kate.himmelmann@vgregion.se), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Aug 2026.