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Recruiting NCT04528303

Whole Genome Sequencing Versus Whole Exome Sequencing for Congenital Diarrhea and Enteropahty

No phase Interventional Diarrhea, Infantile Enteropathy

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Whole genome sequencing, Whole exome sequencing.
Who it may be relevant to
Registry conditions: Diarrhea, Infantile, Enteropathy. Basic parameters: up to 6 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
China
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

A Randomized, Controlled Trial of the Effectiveness of Whole Genome Sequencing Versus Whole Exome Sequencing for Screening Patients With Congenital Diarrhea and Enteropathy (CODESeq)

Overview

This study will seek to determine if whole genome sequencing (WGS) improves diagnostic rates, and outcomes for congenital diarrhea and enteropathy (CODE) patients. The investigator will enroll 180 patients in a randomized controlled study to either WGS or whole exome sequencing (WES). This study is designed to evaluate whether CODE patients would benefit from WGS guided precision medicine.

Interventions

  • Genetic Whole genome sequencing
    Genomic sequencing and molecular diagnostic results
  • Genetic Whole exome sequencing
    Genomic sequencing and molecular diagnostic results

Primary outcome measures

  • Diagnostic rates between WGS and WES [Time frame: Within approximately 60 days of enrollment]
Secondary outcome measures (4)
  • Number of patients receiving precision medicine guided by sequencing results [Time frame: Within approximately 60 days of enrollment]
  • Mortality of patients [Time frame: Within approximately 1 year of enrollment]
  • Rate of parental satisfaction with sequencing [Time frame: Within one week of patient enrollment]
  • Number of parents who are available for trio sequencing [Time frame: Within one week of patient enrollment]

Eligibility criteria

Inclusion criteria

  • Patients with chronic diarrhea lasting greater than 2 months
  • Patients with consent from parents or legal guardians
  • Biological relative of a patient enrolled in this study.

Exclusion criteria

  • Chronic diarrhea caused by specific infections, i.e. CMV, Clostridioides difficile
  • Chronic diarrhea with necrotizing enterocolitis, short bowel syndrome
  • Functional diarrhea
  • Patients with previously confirmed monogenic diarrhea
  • Patients with poor compliance

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation
Randomized
Model
Parallel assignment
Masking
Double blind
Primary purpose
Diagnostic

Study locations

China · 1 center
  • Ying Huang — Shanghai

Identifiers

NCT: NCT04528303 · WGS_CODE_01

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗