An observational study in Movement Disorders in Children, Neuro Developmental Delay and Neurogenetic Disorders, sponsored by University of Medicine and Pharmacy at Ho Chi Minh City. Recruiting at 2 sites in Vietnam. Open to participants aged Up to 18 Years. Per ClinicalTrials.gov, last updated 2026-07-10.
Sponsored by University of Medicine and Pharmacy at Ho Chi Minh City · Observational
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.
Movement disorders in children represent a heterogeneous group of neurological conditions that include dystonia, chorea, ataxia, myoclonus, tremor, tics, parkinsonism, and mixed movement disorders. The underlying causes are highly diverse and include genetic, metabolic, neurodegenerative, structural, immune-mediated, and acquired disorders. However, a substantial proportion of pediatric patients remain without a definitive diagnosis after standard clinical evaluation and routine investigations.
Recent advances in next-generation sequencing technologies, particularly whole-exome sequencing, have significantly improved the diagnostic yield in pediatric movement disorders and have contributed to the identification of novel disease-causing genes and genotype-phenotype correlations. Nevertheless, data regarding the clinical and genetic spectrum of pediatric movement disorders in Vietnam remain limited.
The VPeMD registry is a prospective observational patient registry designed to collect standardized clinical and genetic data from Vietnamese children with movement disorders of unknown etiology. Participants will undergo detailed clinical evaluation by pediatric neurology specialists, including assessment of movement phenomenology, neurological findings, developmental history, family history, neuroimaging findings, laboratory investigations, and treatment history.
Biological samples will be collected for genetic analysis, including whole-exome sequencing and additional molecular investigations when appropriate. Genetic variants will be interpreted according to internationally accepted standards and correlated with clinical manifestations.
The study aims to characterize the phenotypic and genotypic spectrum of pediatric movement disorders in Vietnam, evaluate diagnostic yield of genetic testing, identify genotype-phenotype correlations, and assess the potential impact of genetic diagnosis on patient management, prognosis, genetic counseling, and future therapeutic strategies.
University of Medicine and Pharmacy at Ho Chi Minh City is the lead sponsor of 118 studies on the registry; 39 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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.
Exclusion Criteria:
Vietnamese children with clinically confirmed movement disorders of unknown etiology who meet the study eligibility criteria and are enrolled in the VPeMD registry. Participants will undergo standardized clinical data collection and genetic testing using whole-exome sequencing.
Diagnostic Test: Whole-Exome Sequencing
Whole-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.
Also known as: WES, Next-generation sequencing
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 enrollment
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 months
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 months
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 months
Plan to share: No — Individual participant data will not be shared because the study involves pediatric participants and sensitive genetic data. Data sharing is restricted by the approved ethics protocol, informed consent, and privacy considerations related to clinical and genomic information.
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University of Medicine and Pharmacy at Ho Chi Minh City