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Newborn DNA screening could slash time to rare disease diagnosis

NCT ID NCT06549218

Knowledge-focused Sponsor: University Hospital Freiburg 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 27, 2026 · Last updated Jun 27, 2026

Summary

This study aims to speed up the diagnosis of rare diseases in newborns by offering genetic screening shortly after birth. About 20,000 families will be invited to participate. The approach uses a targeted gene panel for treatable conditions and, if symptoms appear, whole genome sequencing to find the cause. Researchers will follow up with families to see how screening affects the child's health and family well-being.

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 20,000 people

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

Started

Dec 2024

Expected to finish

Dec 2026

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 2 years

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: * TREAT-panel: * newborns * Infants born in one of the participating hospitals and birth centres * Informed consent signed by both parents/legal guardian to participate in genetic newborn screening (TREAT-panel) * Whole genome sequencing: * Participation in the TREAT-panel study * Symptoms suggestive of a genetic disease within the first 2 years of life * Informed consent signed by both parents/legal guardian to participate in genetic newborn screening (TREAT-panel) and the whole genome sequencing Exclusion Criteria: * Missing informed consent of parents/legal guardian

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As listed by the trial registrant

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

Newborn screening

How to take part

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

  1. The places running it

    6 sites in 2 countries. 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

  • Azienda Ospedaliero Universitaria di Modena, Neonatology Unit

    RECRUITING

    Modena, 41100, Italy

  • Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants

    COMPLETED

    Dijon, 21079, France

  • Charité University Medicine Berlin

    RECRUITING

    Berlin, 13353, Germany

  • Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center

    RECRUITING

    Freiburg im Breisgau, 79106, Germany

  • Ospedale Pediatrivo Bambino Gesu IRCCS

    RECRUITING

    Rome, Lazio, 00165, Italy

  • San Pietro Fatebenefratelli Hospital

    RECRUITING

    Roma, 00189, Italy

  • Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna

    COMPLETED

    Ferrara, 44122, Italy

  • University Medical Center Göttingen, Clinic for Neurology

    RECRUITING

    Göttingen, 37075, Germany