Status:
RECRUITING
A Pilot Study to Assess the Feasibility and Acceptability of Newborn Screening Using in Silico Panel-based Solo Genome Sequencing in France
Lead Sponsor:
Centre Hospitalier Universitaire Dijon
Conditions:
Newborn Screening Programmes for Rare Diseases
Eligibility:
All Genders
Up to 28 years
Brief Summary
Newborn Screening (NBS) based on genome sequencing (GS) is currently the subject of particular attention at both European and international levels. Over the past three years, several publications have...
Eligibility Criteria
Inclusion
- 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
- 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"
Key Trial Info
Start Date :
May 5 2025
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
July 1 2031
Estimated Enrollment :
5000 Patients enrolled
Trial Details
Trial ID
NCT06875089
Start Date
May 5 2025
End Date
July 1 2031
Last Update
November 21 2025
Active Locations (5)
Enter a location and click search to find clinical trials sorted by distance.
1
CHU d'Angers
Angers, France, 49933
2
CHU Besançon
Besançon, France, 25000
3
CHU Dijon Bourgogne
Dijon, France, 21000
4
CHU Hôtel Dieu
Nantes, France, 44093