Non-progressive Congenital Ataxia - Advancing Diagnosis to Enhance Chances for Targeted Therapy
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 50
- 试验地点
- 14
- 主要终点
- Characterization of NPCA/ataxic CP
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 5 Years 至 8 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •male or female children
- •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
排除标准
- •Children with all other diagnoses of movement disorders or other CP subtypes
研究组 & 干预措施
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.
结局指标
主要结局
Characterization of NPCA/ataxic CP
时间窗: 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
次要结局
- Epilepsy([Time Frame: At time of clinical assessment, between ages 5 and 8 years])
- 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)
- Fine motor function(At time of examination at 5 to 8 years of age)
- Manual ability(At time of examination at 5 to 8 years of age)
- Epilepsy characteristics([Time Frame: At time of clinical assessment, between ages 5 and 8 years])
- Epilepsy treatment([Time Frame: At time of clinical assessment, between ages 5 and 8 years])
- Onset of epilepsy([Time Frame: At time of clinical assessment, between ages 5 and 8 years])
- Visual impairment([Time Frame: At time of clinical assessment, between ages 5 and 8 years])
- Hearing impairment([Time Frame: At time of clinical assessment, between ages 5 and 8 years])
- Parental psychological health (parent report)(through study completion, an average of 1 year)
- Magnetic Resonance Imaging (MRI)(through study completion, an average of 1 year)
- Genomic analysis(through study completion, an average of 1 year)
- Family interactions with healthcare system and care utilization(through study completion, an average of 1 year)
- Child´s quality of life (proxy-reported)(through study completion, an average of 1 year)
- Perceived family burden (parent report)(through study completion, an average of 1 year)
研究者
Kate Himmelmann
Coordinating investigator
Vastra Gotaland Region