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French study explores genome screening for newborns

NCT ID NCT06875089

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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jun 27, 2026 · Updated 1 time

Summary

This pilot study aims to see if it is feasible and acceptable to use genome sequencing to screen newborns for rare diseases in France. Researchers will offer the test to parents of 2,500 newborns across five hospitals, targeting treatable and actionable genetic conditions. The study will also explore why some parents decline and the emotional impact on families who receive results.

What this could mean

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

What this could lead to
If successful, this could pave the way for routine genome-based newborn screening in France, enabling early detection and management of rare diseases.
What could go wrong
This is a small pilot study (2,500 newborns) focused on feasibility, not on proving health benefits. It may not show clear clinical utility or be accepted by all families.

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 5,000 people

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

Started

May 2025

Expected to finish

Jul 2032

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

all the parents of live newborns in each participating maternity unit

Ages

0 to 28 days

Sex

Anyone

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: For satisfaction study about the information \& identification of determinants of acceptability : Inclusion criteria for parents/legal guardians : * All future parents approached for whom the unborn child will be cared for in the participating maternity unit * At least one parent/legal guardian who received information about the study * Future parents/legal guardian who do not object to the use of their data * Parent(s) or legal guardian(s) affiliated to a social security system or beneficiaries of such a system For pGS-NBS : Inclusion criteria for newborn : * All babies born in one of the participating centers or born by chance outside the maternity but whom care will be carried out in the participating center * Newborn who are less than 28 days at the date of the collection of PGC1 blotting paper Inclusion criteria for parents/legal guardians * At least one biological parent who received information about the study * Parent(s) or legal guardian(s) who do not object to "conventional" NBS * At least one parent/legal guardian able to provide consent for testing the infant * Informed consent signed by at least one parent/legal guardian * Agreement of the second parent/legal guardian for testing the infant (unless he is unknown or loss of contact) obtained from the first parent/legal guardian if his written informed consent has not been obtained * Parent(s) or legal guardian(s) affiliated to a social security system or beneficiaries of such a system Exclusion Criteria: Non inclusion criteria for satisfaction studies and pGS-NBS : Non-inclusion criteria for parents/legal guardians : * Parent(s) or legal guardian(s) under legal protection (guardianship, tutorship) or to a court order Non-inclusion criteria for newborn * Babies born under anonymous birth according to the French law, known as "nés sous X"

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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

    5 sites. 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

  • CHU Besançon

    NOT_YET_RECRUITING

    Besançon, 25000, France

  • CHU Dijon Bourgogne

    RECRUITING

    Dijon, 21000, France

  • CHU Hôtel Dieu

    NOT_YET_RECRUITING

    Nantes, 44093, France

  • CHU Rennes - Hôpital Sud

    NOT_YET_RECRUITING

    Rennes, 35203, France

  • CHU d'Angers

    NOT_YET_RECRUITING

    Angers, 49933, France