Combining biomArkers and Tele-health Solutions for Delivering at Home and in the Community Precision Medicine and Intervention for the Upper Limb in cHildren With HEMIplegia Due to Stroke (CATCH-HEMI)
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 60
- 试验地点
- 1
- 主要终点
- Score of the Assisting Hand Assessment (AHA)
研究概览
简要总结
Paediatric (including perinatal) stroke has an incidence of between 1.3 and 13.0 per 100.000 yearly in Europe. 1/3 of children with neonatal and 50% of post-natal stroke will develop a hemiplegia with upper limb being generally more affected than lower limb and a severe impact on children's participation and quality of life. Opportunities to advance scientific knowledge of the influence of genomic variation on the pattern, presentations and prognosis of paediatric stroke are lacking. Conversely, the discovery could have an enormous potential to drive the rehabilitation that is the major component of the stroke patient's care and to achieve a good functional outcome. The present proposal aims to change the current management of care and intervention of children with hemiplegia due to stroke, by identifying relevant biomarkers coming from four different areas (omics, clinical assessment, neuroimaging, Information and Communication Technologies) in order to stratify the children and to create a novel transdisciplinary patient-centred model to optimize and tailor the rehabilitation treatment. As a diagnostic tool, the new workflow allows the set-up for planning an individualized treatment based on patient specific needs, creating a model for an evidence-based clinical decision-making process that starts from the measurements of specific biomarkers, clinical measurements and effective use of patient's Upper Limb. The feasibility of the planned approach can be applied for deeply analysing and understanding results of previous researches and in new pilot studies on already available rehabilitative treatments. The results will provide an example of how different kinds of integrated assessments can contribute to create a plan for the management of children with hemiplegia due to stroke, thus leading to a better understanding of the correlation between genetic and phenotypic data. Finally, the Health Technology Assessment will provide estimates of its national and regional cost effectiveness.
详细描述
Etiological causes of stroke in children are manifold and comprise both genetic and epigenetic factors but there are no reliable predictors for prevention or treatment strategies. Phenotypic variation of clinical features poses several challenges to the application of precision stroke medicine, making a simple genetic risk assessment only partially informative on an individual basis. The high incidence and prevalence, together with the high hetereogeneity of the etiology and phenotypic profiles, candidates the stroke in childhood as one of the main disorders in childhood that needs of a Personalised Medicine (PM) approach. The guiding principles of PM in adult stroke underscore, in fact, the need to identify, value, organise and analyse the multitude of variables obtained from each individual to generate a precise approach to optimise rehabilitation target.
The present proposal aims to change the current management of care and intervention of children with hemiplegia due to stroke, providing a new model of precision transdisciplinary approach. The main goal is to identify relevant biomarkers coming from four different areas (omics, clinical assessment, neuroimaging, kinematic analysis) in order to stratify the children and create a novel children stroke Patient Specific Model (PSM) to optimize and tailor the rehabilitation treatment. This approach is highly requested by the need of tailoring the rehabilitation treatment not only on the base of rough estimates of outcomes for a particular treatment planning and intervention but on the identification and analysis of the multitude of variables obtained from each individual. Moreover, much of comprehensive data are already collected by clinicians, but yet not readily used, during previous focused diagnostic and/or rehabilitative research project in a whole and personalized treatment approach (called theranostic, in PM approach). CATCH-HEMI will contribute to the improvement of quality of care of each child with hemiplegia due to stroke.
The investigators will collect all the data in a sample of at least 60 children with hemiplegia due to stroke.
The four areas that will be assessed will be: GENETIC (just a blood sample will be collected); NEUROIMAGING (just the already available structural brain MRI images will be collected); CLINICAL ASSESSMENT: all the 60 participants will be clinically evaluated at baseline with a comprehensive battery of standardised outcome measures (the evaluation will last around 2 hours covering all the domains underlined by the ICF, i.e. International Classification of Functioning, Disability and Health). Additional time will be required for children and parents to fill in questionnaires investigating the participation and quality of life. These questionnaires could be filled in at home and then send via mail to the clinicians. Moreover, for the KINEMATIC evaluation, participants will be asked to worn wearable smart commercial technological solutions (e.g. bracelets with sensors inside, app for registering daily life) for one month after the clinical evaluation.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 6 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •mild to moderately severe impairment of upper limb function with minimal ability to grasp and hold objects with affected hand (MACS level I-IV);
- •no obvious motor dyspraxia or communication deficits as assessed by ability to imitate action with the non-paretic upper limb;
- •sufficient cooperation, cognitive and communicative understanding to perform assessments and participate in the intervention;
- •adequate attention, engagement and visual abilities to perform
排除标准
- •severe or very minor UpL disability (MACS V);
- •Botulinum toxin-A injections in upper limb within 6 months prior to study entry;
- •upper limb surgery in UpL within 6 months prior to study entry
结局指标
主要结局
Score of the Assisting Hand Assessment (AHA)
时间窗: Months 1-24
This assessment measures bimanual performance in children with unilateral upper limb disabilities, during a semi-structured session with specific toys or activities. Is a standardized criterion-referenced test and the sum of scores may vary between 20 and 80, where a higher score indicates a higher ability level; the scaled score ranges between 0 and 100 and is a transformation of the sum score to a percentage distribuition within the scale, where 100 indicates that all test items were performed with the highest scores, and 0 means that all test items were performed with the lowest points.
Score of magnetic resonance images with the semi-quantitative magnetic resonance image (sqMRI) scale
时间窗: Months 1-24
The sqMRI is comprised of a global score and a number of subscores specifically assessing the involvement of different brain regions and the severity of brain lesion based on its structural MRI apearance (i.e. sequences, timing from the stroke event, digitalization)
Kinematic parameters (i.e. speed, jerk, time) of upper limb abilities by means of Virtual Reality Rehabilitation System (VRRS)
时间窗: Months 1-24
VRRS activities will quantitatively evaluate unimanual abilities, through kinematic parameters.
Vector magnitude of upper limbs activities detected with ActigraphGXT3+ during clinical assessment
时间窗: Months 1-24
ActigraphGXT3+, that will be worn on the two wrists, will quantitatively measure the movements of upper limbs during the clinical assessment.
Numbers and type of stroke-related mutation by means of Whole Exome Sequencing (WES)
时间窗: Months 1-24
To study the prevalence and genotype-phenotype correlation of mutations in genes already associated with pediatric stroke and to discover new possible candidate genes, a blood sample (7 cc) will be acquired and Whole Exome Sequencing (WES) will be applied to search rare potentially damaging single nucleotide variants (SNVs).
次要结局
- Scores of Cerebral Palsy Quality of Life Questionnaire for Adolescents (CP QOL -Teen, 13-18 years)(Months 1-24)
- Scores of upper limbs activities detected with ActigraphGXT3+ during daily life(Months 1-24)
- Scores of Cognitive assessment with Wechsler Adult Intelligence Scale - Fourth Edition (WAIS-IV)(Months 1-24)
- Scores of Melbourne Assessment 2 (MA2)(Months 1-24)
- Scores of patient and Environment Measure - Children and Youth (PEM-CY)(Months 1-24)
- Scores of Cerebral Palsy Quality of Life Questionnaire for Children (CP QOL -Child, 4-12 years)(Months 1-24)
- Scores of Child behavior checklist (CBCL)(Months 1-24)
- Scores of Behavior Rating Inventory of Executive Function - Second Edition (BRIEF-2)(Months 1-24)
- Scores of Box and Block Tests (BBT)(Months 1-24)
- Scores of Children's Hand-use Experience Questionnaire (CHEQ)(Months 1-24)
- Scores of Cognitive assessment with Wechsler Intelligence Scale for Children - Fourth Edition (WISC-IV)(Months 1-24)
- Cognitive assessment with Wechsler Preschool and Primary Scale of Intelligence - Fourth Edition (WPPSI-IV)(Months 1-24)
- Scores of Developmental test of Visual-Motor Integration (VMI)(Months 1-24)
- Scores of auditory attention and response set with NEPSY-II(Months 1-24)
- Scores of verbal fluency with NEPSY-II(Months 1-24)
- Scores of inhibition with NEPSY-II(Months 1-24)
- Scores of BVS Corsi test(Months 1-24)
- Scores of sustained attention with LEITER-3(Months 1-24)