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100,000 babies to get DNA screening for hidden genetic diseases

NCT ID NCT05990179

Knowledge-focused Sponsor: Columbia 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 25, 2026 · Last updated Sep 21, 2026 · Updated 2 times

Summary

This study will use genome sequencing on dried blood spots from 100,000 newborns to screen for rare genetic conditions that are not part of routine newborn screening. Families can choose to learn about treatable conditions or those with treatments in development. The goal is to see if this approach can be effectively added to public health programs to give all babies an equal chance at early diagnosis and care.

What this could mean

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

Active substance
genome sequencing-based newborn screening
What this could lead to
If successful, this could expand newborn screening to detect many more rare genetic conditions early, giving babies a healthier start.
What could go wrong
This is an early-stage study focused on feasibility, not a treatment. It may not lead to immediate changes in public health screening, and false positives could cause anxiety.

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 100,000 people

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

Started

Sep 2022

Expected to finish

Sep 2029

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

1 day to 1 month

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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: * Newborns admitted to the well-baby nurseries from the recruiting hospitals * Newborns born after 33 weeks of gestation * Newborns whose parents are English, Mandarin, or Spanish speaking

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As listed by the trial registrant

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

Early onset genetic conditions with near complete penetrance

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

  • Columbia University Irving Medical Center/NYP

    RECRUITING

    New York, New York, 10032, United States