French study explores genome screening for newborns
NCT ID NCT06875089
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
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About 5,000 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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May 2025
- Expected to finish
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Jul 2032
An estimate. End dates often move.
- Lead sponsor
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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
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0 to 28 days
- Sex
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Anyone
Show the full entry requirements Hide 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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Genom att skicka in godkänner du våra Användarvillkor
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.
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The places running it
5 sites. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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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
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CHU Besançon
NOT_YET_RECRUITINGBesançon, 25000, France
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CHU Dijon Bourgogne
RECRUITINGDijon, 21000, France
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CHU Hôtel Dieu
NOT_YET_RECRUITINGNantes, 44093, France
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CHU Rennes - Hôpital Sud
NOT_YET_RECRUITINGRennes, 35203, France
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CHU d'Angers
NOT_YET_RECRUITINGAngers, 49933, France