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Gene tests for sick newborns: a lifesaver in the NICU?

NCT ID NCT02551081

Knowledge-focused Sponsor: Children's Hospital of Fudan University Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 26, 2026 · Last updated Jun 26, 2026

Summary

This study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized treatment based on genetics improves outcomes.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
Next Generation Sequencing (genetic testing)
What this could lead to
If successful, this could show that rapid genetic testing helps doctors diagnose and treat birth defects faster, potentially improving survival and development for newborns.
What could go wrong
This is an observational study, not a treatment trial. It may not directly improve outcomes, and the benefits of faster diagnosis are still unproven.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 2,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Oct 2015

Expected to finish

Dec 2025

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

The study population will be recruited from Hospital inpatient population, primarily the neonatal intensive care unit who has some anomaly or abnormal laboratory testing suggestive of a genetic disease.

Ages

Up to 28 days

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: One of the following criteria required. 1. Neonates admitted to the Neonatal Intensive Care Units in one of the study hospitals 2. Clinical genetic testing or a genetic consult is ordered 3. Subject has one major structural anomaly or three or more minor anomalies 4. Abnormal laboratory testing suggestive of a genetic disease 5. Abnormal response to standard therapy for a major underlying condition Exclusion Criteria: 1. Previously performed exome/genome sequencing on patient 2. Any infant in which clinical considerations preclude drawing 1.0 ml of blood 3. Has features pathognomonic for a large chromosomal aberration (Trisomy 13, 18, 21 or other) 4. Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician 5. Parents refuse consent

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Conditions

The condition(s) this trial relates to.

Congenital Abnormalities developmental defect during embryogenesis hereditary disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Congenital malformation Genetic disease Multiple malformation

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Children Hospital of Fudan University

    RECRUITING

    Shanghai, Shanghai Municipality, China

More trials for these conditions

Other studies related to the condition(s) this trial covers.