Combining biomArkers and Tele-health Solutions for Delivering at Home and in the Community Precision Medicine for the Upper Limb in cHildren With HEMIplegia Due to Stroke

NCT06012617 | Unknown

• 1 other identifier: ERAPERMED2019-254
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Congenital Hemiplegia; Unilateral Cerebral Palsy

Keywords

stroke; hemiplegia; children; upper limb; precision specific model

Outcome Measures

Primary Outcomes (5)

• Score of the Assisting Hand Assessment (AHA)

  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.

  Months 1-24

• Kinematic parameters (i.e. speed, jerk, time) of upper limb abilities by means of Virtual Reality Rehabilitation System (VRRS)

  VRRS activities will quantitatively evaluate unimanual abilities, through kinematic parameters.

  Months 1-24

• Vector magnitude of upper limbs activities detected with ActigraphGXT3+ during clinical assessment

  ActigraphGXT3+, that will be worn on the two wrists, will quantitatively measure the movements of upper limbs during the clinical assessment.

  Months 1-24

• Score of magnetic resonance images with the semi-quantitative magnetic resonance image (sqMRI) scale

  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)

  Months 1-24

• Numbers and type of stroke-related mutation by means of Whole Exome Sequencing (WES)

  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).

  Months 1-24

Secondary Outcomes (18)

• Scores of Melbourne Assessment 2 (MA2)

  Months 1-24

• Scores of Box and Block Tests (BBT)

  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 Cerebral Palsy Quality of Life Questionnaire for Adolescents (CP QOL -Teen, 13-18 years)

  Months 1-24

Study Arms (1)

UCP group

children with hemiplegia due to stroke

Eligibility Criteria

• Age: 6 Years - 18 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

We will include patiens with confirmed diagnosis of hemiplegia due to pre-peri or post-neonatal, arterious ischemic or hemorragic venous stroke.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• IRCCS Fondazione Stella Maris: lead
• Karolinska Institutet: collaborator
• Karlsruhe Institute of Technology: collaborator
• Alexandria University: collaborator
• Khymeia: collaborator

Study Sites (1)

Prof. Tarek Omar

Alexandria, Egypt

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood sample

MeSH Terms

Conditions

Stroke; Hemiplegia

Condition Hierarchy (Ancestors)

Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Paralysis; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Giuseppina Sgandurra, MD, PhD

CONTACT

050 886233/224; g.sgandurra@fsm.unipi.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 20, 2023
• First Posted: August 25, 2023
• Study Start: September 1, 2023
• Primary Completion: September 30, 2024
• Study Completion: September 30, 2024
• Last Updated: August 25, 2023

Record last verified: 2023-08

Locations

EG (1)