Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-01-18

Study Completion Date

2019-03-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and undiagnosed diseases

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

The China Neonatal Genomes Project

NCT03931707

Newborn Hereditary Disease Genetic Predisposition to Disease +1 more

RECRUITING

Newborn Sequencing Screening in China

NCT05476640

Newborns

NOT_YET_RECRUITING

Use of Long Read Genome Sequencing in Patients Suffering From Neurodevelopmental Troubles

NCT05643274

Genetic Disease Neurologic Disorder Developmental Delay Disorder +1 more

COMPLETED

Whole-exome Sequencing in Childhood Obesity

NCT02418377

Childhood Obesity

COMPLETED

Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants

NCT05161169

Genetic Predisposition to Disease Hereditary Diseases

COMPLETED NA

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

This project will recruit 100 rare, undiagnosed pediatric genetic disease families (core families: patients, patients' parents, immediate family members such as brothers and sisters, all of them can be enrolled whether they have disease or not, so generally 3, for a few cases 4 or 5) all over the country. The expert team will review the clinical materials, the molecular team will review the experimental process, and the bioinformatics team will review the chip, the analysis of whole exome sequencing data and screen the samples all over the country;

Whole-genome sequencing of 100 rare, undiagnosed pediatric genetic disease families (Illumina NovaSeq High-throughput Sequencer);

The study will provide preliminarily performance data on the comparison of whole exome data and whole genome data. In addition, it will generate the Chinese Consensus on Clinical Applications of Whole-genome sequencing in the Diagnosis of Birth Defects and Undiagnosed Rare Genetic Diseases in Children based on the statistical analysis of clinical phenotype and genotype association, which could guide the clinical application of pediatrics, laboratory testing and reporting.

Construction of the Chinese detection genome database of genetic disease

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Intellectual Disability Multiple Congenital Anomaly Rare Diseases

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Patients with unexplained DD/ID

Whole genome sequencing will be performed on pediatric patients with unexplained developmental delay(DD)/intellectual disability(ID), multiple congenital abnormalities and other rare and undiagnosed diseases.

Whole genome sequencing

Intervention Type DIAGNOSTIC_TEST

WGS will be performed for the trio

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Whole genome sequencing

WGS will be performed for the trio

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

1. Intelligence tests results of less than 40 (patients \<3 years old using the Gesell Developmental Scale for screening; patients of 3-6 years old using Little Wechsler Intelligence Scale for screening; patients \>6 years old using Old Wechsler Intelligence Scale for screening).
2. Neurodevelopmental defects can be expressed as mental retardation, motor development retardation, language delay, epilepsy, etc. May have or not have Multiple congenital abnormalities, families with more than one affected patient will be enrolled priority
3. Families went through at least one of the high throughput technology(WES or CMA) and receive the negative result

Exclusion Criteria

1. Intellectual disability caused by pregnancy, perinatal infection, ischemia, and hypoxia and other non-hereditary causes,
2. Obvious genetic metabolic diseases (such as different types of genetic metabolic diseases, bone disease, fragile X syndrome, etc.);

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Yongguo Yu

Associate chief physician

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Yongguo Yu, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Specify Unaffiliated

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Peking Union Medical College Hospital

Beijing, Beijing Municipality, China

Site Status RECRUITING

Children's Hospital, Capital Institute of Pediatrics

Beijing, Beijing Municipality, China

Site Status RECRUITING

Department of Pediatrics, Peking University First Hospital

Beijing, Beijing Municipality, China

Site Status RECRUITING

The Maternal & Child Health Hospital, The Children's Hospital, The Obstetrics & Gynecology Hospital of Guangxi Zhuang Autonomous Region

Nanning, Guangxi, China

Site Status RECRUITING

The Maternal and Child Health Hospital of Hunan Province

Changsha, Hunan, China

Site Status RECRUITING

Xiangya Hospital, Central-south University / Hunan Jiahui genetics hospital

Changsha, Hunan, China

Site Status RECRUITING

Hunan Children's Hospital

Changsha, Hunan, China

Site Status RECRUITING