Pediatric Movement Disorders of Unknown Etiology in Vietnam (VPeMD)

NCT07695610 | Recruiting

• 1 other identifier: UMP-VPeMD-26298
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 2

Brief Summary

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.

Conditions

Movement Disorders in Children; Neuro Developmental Delay; Neurogenetic Disorders

Keywords

VPeMD; Vietnam; Whole Exome Sequencing; Pediatric movement disorders

Outcome Measures

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.

  At enrollment

Secondary Outcomes (3)

• Diagnostic Yield of Whole-Exome Sequencing

  From enrollment to return of genetic results, up to 12 months

• Genotype-Phenotype Correlation

  From enrollment to completion of clinical and genetic data analysis, up to 24 months

• Impact of Genetic Diagnosis on Clinical Management

  From return of genetic results to follow-up assessment, up to 12 months

Study Arms (1)

Vietnamese Pediatric Movement Disorder Cohort

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

Interventions

Whole-Exome Sequencing DIAGNOSTIC_TEST

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

Vietnamese Pediatric Movement Disorder Cohort

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study 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.

You may qualify if:

• 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 evaluated or treated at University Medical Center Ho Chi Minh City or Children's Hospital 1 during the study period.
• Patients and/or legal guardians who provide written informed consent for study participation and genetic testing.

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Medicine and Pharmacy at Ho Chi Minh City: lead

Study Sites (2)

Children's Hospital 1, Ho Chi Minh City

Ho Chi Minh City, Ho Chi Minh City, 700000, Vietnam

RECRUITING

University Medical Center Ho Chi Minh City

Ho Chi Minh City, Ho Chi Minh City, 700000, Vietnam

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Peripheral blood samples will be collected from enrolled participants for DNA extraction and whole-exome sequencing. DNA samples may be retained for genetic variant analysis, confirmation testing when needed, and genotype-phenotype correlation according to the approved study protocol and informed consent.

MeSH Terms

Interventions

Exome

Intervention Hierarchy (Ancestors)

Genome; Genetic Structures; Genetic Phenomena

Study Officials

• Linh B. Y Nguyen, MD, MSc, PHD Candidate

  University of Medicine and Pharmacy at Ho Chi Minh City

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Bich Y L Nguyen, MD, MSc, PhD Candidate

CONTACT

+84 939077089; nbylinh.ncs25@ump.edu.vn

Hieu L. T. Nguyen, Assoc Prof, MD, PhD

CONTACT

+84 908393616; ngletrunghieu@ump.edu.vn

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 12 Months
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MSc, PhD Candidate

Study Record Dates

• First Submitted: July 1, 2026
• First Posted: July 10, 2026
• Study Start: April 17, 2026
• Primary Completion (Estimated): February 1, 2028
• Study Completion (Estimated): January 31, 2029
• Last Updated: July 10, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share

Locations

VN (2)