A European study of non-progressive ataxia in children

Non-progressive congenital ataxia advancing diagnosis to enhance chances for targeted therapy (Icke-progressiv kongenital ataxi - förbättrad diagnostik för ökad möjlighet till riktad behandling)

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ISRCTN

Registry ID

ISRCTN89285040

Enrollment

Registered

2025-10-28

Start date

2025-11-27

Completion date

Unknown

Last updated

2025-11-11

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Non-progressive congenital ataxia (NPCA), ataxic cerebral palsy Nervous System Diseases

Interventions

1. Clinical assessment of ataxia 2. Impairment profile (gross and fine motor function, speech and communication function, cognitive function including neuropsychiatric disorders, epilepsy, vision and

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1. Male or female 2. Confirmed diagnosis of non-progressive congenital ataxia/ataxic cerebral palsy 3. Aged =5 and =8 years

Exclusion criteria

Exclusion criteria: 1. Child with another diagnosis of movement disorders 2. Child with another cerebral palsy subtype

Design outcomes

Primary

Measure	Time frame
Characterization of non-progressive congenital ataxia (NPCA)/ataxic cerebral palsy through integral analysis of clinical features, brain imaging, and advanced genomic testing at the time of study visit	—

Secondary

Measure	Time frame
1. Clinical assessment of ataxic features includes muscle tone, tremor, balance, spasticity, and dystonia. Evaluation of ataxic features with the Scale for the Assessment and Rating of Ataxia (SARA) at the time of study visit 2. 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) at the time of study visit 3. Speech is classified using the Viking Speech Scale (VSS) at the time of study visit 4. Communication is classified using the Communication Function Classification System (CFCS) at the time of study visit 5. Gross motor function is classified with the Gross Motor Function Classification System (GMFCS) at the time of study visit 6. Fine motor function is classified with the Bimanual Fine Motor Function (BFMF) at the time of study visit 7. Manual ability is classified with the Manual Ability Classification System (MACS) at the time of study visit 8. Epilepsy seizure onset (first year/second year/fourth year/fifth year or later) assessed by parent interview at the time of study visit 9. Epilepsy type (focal/generalized/multiple types) assessed by parent interview at the time of study visit and retrospective data collection from medical records 10. Epilepsy frequency last year (seizure-free/seldom or monthly/weekly or daily/other (cluster or unclear) assessed by parent interview at the time of study visit and retrospective data collection from medical records 11. Epilepsy treatment: none/monotherapy/polytherapy (specify), drug resistant: yes/no, other treatment (specify), assessed by parent interview at the time of study visit and retrospective data collection from medical records 12. Visual impairment: yes/no. If yes: severe/not severe (Severe visual impairment definition: Defined as blind or no useful vision (after correction, on the better eye). If the level of	—

Measure

Time frame

1. Clinical assessment of ataxic features includes muscle tone, tremor, balance, spasticity, and dystonia. Evaluation of ataxic features with the Scale for the Assessment and Rating of Ataxia (SARA) at the time of study visit 2. 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) at the time of study visit 3. Speech is classified using the Viking Speech Scale (VSS) at the time of study visit 4. Communication is classified using the Communication Function Classification System (CFCS) at the time of study visit 5. Gross motor function is classified with the Gross Motor Function Classification System (GMFCS) at the time of study visit 6. Fine motor function is classified with the Bimanual Fine Motor Function (BFMF) at the time of study visit 7. Manual ability is classified with the Manual Ability Classification System (MACS) at the time of study visit 8. Epilepsy seizure onset (first year/second year/fourth year/fifth year or later) assessed by parent interview at the time of study visit 9. Epilepsy type (focal/generalized/multiple types) assessed by parent interview at the time of study visit and retrospective data collection from medical records 10. Epilepsy frequency last year (seizure-free/seldom or monthly/weekly or daily/other (cluster or unclear) assessed by parent interview at the time of study visit and retrospective data collection from medical records 11. Epilepsy treatment: none/monotherapy/polytherapy (specify), drug resistant: yes/no, other treatment (specify), assessed by parent interview at the time of study visit and retrospective data collection from medical records 12. Visual impairment: yes/no. If yes: severe/not severe (Severe visual impairment definition: Defined as blind or no useful vision (after correction, on the better eye). If the level of

—

Countries

Belgium, Denmark, France, Germany, Greece, Norway, Sweden

Contacts

Public ContactCatherine Arnaud

catherine.arnaud@univ-tlse3.fr+33 (0)5671285

Outcome results

None listed

Source: ISRCTN (via WHO ICTRP) · Data processed: Feb 4, 2026