Pediatric Movement Disorders of Unknown Etiology in Vietnam (VPeMD)
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeUp to 18
SponsorUniversity of Medicine and Pharmacy at Ho Chi Minh City
About this trial
This observational patient registry aims to describe the clinical phenotypes and genetic findings of Vietnamese children with movement disorders of unknown etiology. Eligible participants are children with clinically confirmed movement disorders after evaluation by pediatric neurology specialists and after exclusion of clear acquired causes.
The study will collect clinical data, neurological examination findings, available laboratory and imaging results, and video recordings of abnormal movements when consent is provided. Blood samples will be collected for whole-exome sequencing and related genetic analysis. Genetic variants will be classified according to accepted clinical genetics standards and compared with the patients' clinical phenotypes.
The study is expected to improve understanding of the phenotypic and genotypic spectrum of pediatric movement disorders in Vietnam, support genetic counseling, and evaluate how genetic results may influence diagnosis, follow-up, prognosis, and treatment planning.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Children younger than 18 years old.
Patients with clinically confirmed movement disorders based on direct examination and/or video review by at least two pediatric neurology specialists.
Patients with movement disorders of unknown etiology after appropriate neurological evaluation and exclusion of clear acquired causes.
Patients evaluated or treated at University Medical Center Ho Chi Minh City or Children's Hospital 1 during the study period.
Disqualifiers
Patients with isolated or transient primary tic disorders.
Patients with a confirmed acquired cause of movement disorder.
Patients or legal guardians who decline participation or withdraw from the study.
Patients with insufficient clinical information or unavailable biological samples for genetic analysis.
Trial population
Vietnamese children with clinically confirmed movement disorders of unknown etiology who are evaluated or treated at University Medical Center Ho Chi Minh City or Children's Hospital 1. Participants will be enrolled after clinical assessment by pediatric neurology specialists and after informed consent is obtained from legal guardians and/or participants when appropriate.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Whole-Exome Sequencing
Diagnostic testWhole-exome sequencing will be performed on DNA extracted from peripheral blood samples to identify genetic variants associated with pediatric movement disorders. The test is used for genetic analysis and genotype-phenotype correlation in this observational registry and is not assigned as a treatment intervention.
Treatment groups
50 Participants
are divided into 1 treatment groupGroup A: Vietnamese Pediatric Movement Disorder Cohort1 intervention
Trial outcomes
Primary outcomes
1
Clinical Phenotypes of Pediatric Movement Disorders
Distribution of clinical movement disorder phenotypes among enrolled participants, including dystonia, chorea, ataxia, myoclonus, tremor, parkinsonism, stereotypies, and mixed movement disorders, based on pediatric neurology assessment and clinical records.
Time frame
At enrollmentSecondary outcomes
1
Diagnostic Yield of Whole-Exome Sequencing
Proportion of enrolled participants with pathogenic or likely pathogenic genetic variants identified by whole-exome sequencing and related genetic analysis.
Time frame
From enrollment to return of genetic results, up to 12 months2
Genotype-Phenotype Correlation
Correlation between identified genetic variants and clinical phenotypes of pediatric movement disorders will be assessed. Genetic findings will be obtained from WES. Clinical phenotypes will be characterized using standardized neurological assessments, including movement disorder classification, age at onset, symptom distribution, disease progression, neurological comorbidities, developmental status, and neuroimaging findings when available. The correlation between genotype and phenotype will be evaluated by comparing identified genetic variants with clinical characteristics of enrolled participants.
Time frame
From enrollment to completion of clinical and genetic data analysis, up to 24 months3
Impact of Genetic Diagnosis on Clinical Management
Proportion of participants whose diagnosis, prognosis, follow-up plan, genetic counseling, or treatment strategy is changed after genetic testing results become available.
Time frame
From return of genetic results to follow-up assessment, up to 12 monthsSponsors and contacts
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Source ClinicalTrials.gov