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

February 6, 2018 updated by: Yongguo Yu, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

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

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

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Detailed Description

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

Study Type

Observational

Enrollment (Anticipated)

100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • China
    • Beijing
      • Beijing, Beijing, China, 100005
        • Recruiting
        • Peking Union Medical College Hospital
        • Contact:
        • Sub-Investigator:
          • Zhengqing Qiu, PhD
      • Beijing, Beijing, China, 100020
        • Recruiting
        • Children's Hospital, Capital Institute of Pediatrics
        • Contact:
        • Sub-Investigator:
          • Xiaoli Chen, PhD
      • Beijing, Beijing, China, 100034
        • Recruiting
        • Department of Pediatrics, Peking University First Hospital
        • Contact:
        • Sub-Investigator:
          • Yuwu Jiang, PhD
    • Guangxi
      • Nanning, Guangxi, China, 530005
        • Recruiting
        • The Maternal & Child Health Hospital, The Children's Hospital, The Obstetrics & Gynecology Hospital of Guangxi Zhuang Autonomous Region
        • Contact:
        • Sub-Investigator:
          • Yiping Shen, PhD
    • Hunan
      • Changsha, Hunan, China, 410008
        • Recruiting
        • The Maternal and Child Health Hospital of Hunan Province
        • Contact:
        • Sub-Investigator:
          • Hua Wang, PhD
      • Changsha, Hunan, China, 410008
        • Recruiting
        • Xiangya Hospital, Central-south University / Hunan Jiahui genetics hospital
        • Contact:
        • Sub-Investigator:
          • Lingqian Wu, PhD
      • Changsha, Hunan, China, 410011
        • Recruiting
        • Hunan Children's Hospital
        • Contact:
        • Sub-Investigator:
          • Jing Peng, PhD
    • Jiangsu
      • Nanjing, Jiangsu, China, 210004
        • Recruiting
        • Nanjing maternal and children hospital
        • Contact:
        • Sub-Investigator:
          • Zhengfeng Xu, PhD
    • Shanghai
      • Shanghai, Shanghai, China, 200025
        • Recruiting
        • Ruijin Hospital affiliated to Shanghai Jiaotong University
        • Contact:
        • Sub-Investigator:
          • Wei Wang, PhD
      • Shanghai, Shanghai, China, 200041
        • Recruiting
        • Children's Hospital of Shanghai
        • Contact:
        • Sub-Investigator:
          • Pin Li, PhD
      • Shanghai, Shanghai, China, 200092
        • Recruiting
        • Shanghai Institute for Pediatric Research
        • Contact:
        • Principal Investigator:
          • Yongguo Yu, MD, PhD
      • Shanghai, Shanghai, China, 200092
        • Recruiting
        • Xin Hua Hospital, Shanghai Jiaotong University School of Medicine
        • Contact:
        • Sub-Investigator:
          • Xuefan Gu
      • Shanghai, Shanghai, China, 201712
        • Recruiting
        • Shanghai Children's Medical Center
        • Contact:
        • Sub-Investigator:
          • Fei Li, PhD
    • Zhejiang
      • Wenzhou, Zhejiang, China, 325099
        • Recruiting
        • Wenzhou Central Hospital
        • Contact:
        • Sub-Investigator:
          • Shaohua Tang, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 18 years (ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Undiagnosed Children with intellectual disability/developmental delay and/or multiple congenital abnormalites in China

Description

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.);

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
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.
Diagnostic test: Whole genome sequencing
WGS will be performed for the trio

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of diagnosed families
Time Frame: 1 year
Families with rare and undiagnosed pediatric genetic disease will be benefitted by WGS.
1 year

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Numbers of pathogenic variants in different variation types
Time Frame: 1 year
WGS would have the potential to detect different types of genetic alterations, such as structure variations, point mutation, small insertion/deletion, trinucleotide repeat, etc. Some types could not be identified by exome sequencing and chromosomal microarray. The numbers of the pathogenic variants in these types will be calculated to examine the benefit of WGS.
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Investigators

  • Principal Investigator: Yongguo Yu, MD, PhD, specify unaffiliated

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

January 18, 2018

Primary Completion (ANTICIPATED)

December 1, 2018

Study Completion (ANTICIPATED)

March 1, 2019

Study Registration Dates

First Submitted

January 30, 2018

First Submitted That Met QC Criteria

February 5, 2018

First Posted (ACTUAL)

February 7, 2018

Study Record Updates

Last Update Posted (ACTUAL)

February 8, 2018

Last Update Submitted That Met QC Criteria

February 6, 2018

Last Verified

February 1, 2018

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • XH-18-001

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

IPD Plan Description

We have not yet decided which part of individual participant data(IPD) can be shared.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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