Assessing Newborn Screening Using Genome Sequencing in France

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This pilot study evaluates the feasibility and acceptability of implementing newborn screening programs based on genome sequencing in France. It aims to gather data from parents and newborns in participating maternity units to understand the potential benefits and challenges of such screening. The study will involve qualitative and quantitative assessments, including satisfaction questionnaires and interviews with healthcare researchers. The goal is to explore how genome sequencing can be integrated into existing newborn screening practices for rare diseases.

Why it matters

Who can join: the full rules

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"

Where it's running

• CHU Dijon Bourgogne
  Dijon, France Recruiting
• CHU d'Angers
  Angers, France Not yet recruiting
• CHU Besançon
  Besançon, France Not yet recruiting
• CHU Hôtel Dieu
  Nantes, France Not yet recruiting
• CHU Rennes - Hôpital Sud
  Rennes, France Not yet recruiting

Study contacts

• Study coordinator: Laurence OLIVIER-FAIVRE
• Email: laurence.faivre@chu-dijon.fr
• Phone: 0380295313

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.