Enhancing collaboration for genetic disease diagnosis in critically ill infants

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study focuses on utilizing third-generation genome sequencing to rapidly diagnose genetic diseases in critically ill infants and young children through multinational collaboration in the Asia-Pacific region. Participants, who are infants under 18 months admitted to intensive care, will undergo genetic studies using nanopore sequencing after providing consent. The goal is to achieve early diagnosis for targeted treatment, particularly for those with specific anomalies suggestive of genetic conditions.

Why it matters

Who can join: the full rules

Inclusion Criteria:

1. Age: infant/newborn less than 18 months
2. Admitted to intensive care unit
3. At least one of the following conditions A. Specific anomaly highly suggestive of a genetic etiology

   * Multiple birth defects
   * Single major malformation that required intervention (surgery or medication)
   * Significantly abnormal EKG
   * Significant hypotonia

B. Children with high-risk stratification on assessment of a Brief Resolved Unexplained Event (BRUE) with any of the following:

* Recurrent severe infection events
* Recurrent or prolonged seizures
* Unexplained cardiopulmonary resuscitation (CPR)
* Suspect inborn error of metabolism

Exclusion Criteria:

1. Infants with a definitive non-genetic diagnosis: ex as below A. An infection with normal response to therapy B. Isolated prematurity C. Transient hypoglycemia D. Isolated unconjugated hyperbilirubinemia E. Isolated Transient Neonatal Tachypnea F. Those where the clinical course can be explained without genetic testing
2. Confirmed genetic diagnosis explains illness
3. Lack of consent: Families who do not consent to genetic testing or data sharing.
4. Infants without sufficient DNA sample quality/quantity: Where the quality or quantity of the DNA sample is inadequate for sequencing.

Where it's running

• National Taiwan University Hospital
  Taipei, Taiwan Recruiting

Study contacts

• Study coordinator: Ni-Chung Lee, MDPhD
• Email: ncleentu@ntu.edu.tw
• Phone: +886-2-23123456

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.