Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Can a quick genetic test save critically ill newborns?

NCT ID NCT04848090

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study looks at whether whole genome sequencing can help doctors diagnose genetic disorders faster in newborns admitted to intensive care. Researchers will compare the time to diagnosis and care costs for 400 infants who receive this advanced genetic test versus standard testing. The goal is to see if quicker answers lead to better medical decisions and outcomes.

What this could mean

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

Active substance
whole genome sequencing (a detailed genetic test)
What this could lead to
If successful, this could show that rapid genetic testing helps doctors diagnose seriously ill newborns faster and improve their care.
What could go wrong
This is an observational study, not a treatment trial. It may not prove that faster diagnosis leads to better outcomes, and results may not apply to all hospitals.

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.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

About 400 people

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

Started

Jul 2020

Expected to finish

Jun 2027

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.

Ages

Up to 1 year

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: * Neonates: In order to be approached to participate, a neonate must meet all of the following criteria: 1. Greater than 24 weeks gestational age 2. Birth weight greater than 600 grams 3. Admitted to the intensive care unit at UPMC Children's Hospital (CHP) and/or Magee Women's Hospital 4. Possibility of a genetic disorder based on signs, symptoms, and laboratory values triggering a formal clinical medical genetics consult by the clinical care team. 5. Triaged by PI or attending co-investigators and prioritized to introduction of this research study based on patient-specific clinical concerns 6. Documented informed consent from parent/guardian * Parents: Parent of a neonate who meets the above inclusion criteria and who has been consented to participate in the study. * Siblings: Siblings of a neonate who meets the above inclusion criteria and who has been consented to participate in the study. Siblings will only be recruited if their participation has been determined to be essential to the accurate interpretation of the neonate's genetic studies. * Historical Controls: Individuals who have been evaluated by Medical Genetics within the last 24 months and who meet the criteria for matched controls as defined by propensity score matching. Exclusion Criteria: * Neonates: An individual who meets any of the following criteria will be excluded from participating in this study: 1. Has a known etiologic diagnosis (e.g. prenatal testing) 2. Has a major congenital anomaly (renal, cardiac, hepatic, neurological, or pulmonary malformations) associated with a chromosomal anomaly detected on prenatal testing (e.g. ultrasound, genetic testing) 3. Sequencing sent after birth for any other reason than the genetics consult that triggers the study 4. Presence of documented significant congenital infection (e.g. congenital cytomegalovirus) * Parents: 1. Is not the biological parent of the identified neonate 2. There is no exclusion for parent participation. If the parent is less than 18 years of age, however, these individuals will be asked to assent to the study and their parent(s) will be asked to provide permission/consent for the minor parent's participation 3. Having had previous genetic testing does not exclude the parent from participating in this study. * Siblings: 1. Is not a biological sibling of a neonate who meets the inclusion criteria 2. Is not require for accurate interpretation of neonate results 3. Having had previous genetic testing does not exclude the sibling from participating in this study. * Historical Control: Has not been seen within the past 24 months and/or does not meet the criteria for matched control as defined by propensity score matching. Part of this matching requires that the historical control be matched to a study participant based on age, thus they will be selected based on all matching criteria and will be excluded if they do not meet the criteria, including age.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for Genetic disease are added.

Vår säkerhetsrekommendation!

Genom att skicka in godkänner du våra Användarvillkor

Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

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

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

    The full official record for this study. This one lists no contact details, but it is the first place any would appear.

    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

  • UPMC Children's Hospital of Pittsburgh

    Pittsburgh, Pennsylvania, 15224, United States

More trials for these conditions

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