Assessing Newborn Screening Using Genome Sequencing in France

A Pilot Study to Assess the Feasibility and Acceptability of Newborn Screening Using in Silico Panel-based Solo Genome Sequencing in France PERIGENOMED-CLINICS 1 (PGC1 Study)

This study is testing whether using genome sequencing for newborn screening in France can be accepted by parents and help identify rare diseases in babies.

Quick facts

• Study type: Observational
• Enrollment: 5000 (estimated)
• Ages: 0 Days to 28 Days
• Sex: All
• Sponsor: Centre Hospitalier Universitaire Dijon (Academic / other)
• Locations: 5 sites (Angers and 4 other locations)
• Trial ID: NCT06875089 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates include parents or legal guardians of newborns born in participating maternity units who are open to conventional newborn screening.

Not a fit: Patients who may not benefit include those whose newborns are not born in the participating centers or who object to the use of their data.

Why it matters

Potential benefit: If successful, this study could enhance early detection and intervention for rare diseases in newborns, potentially improving health outcomes.

How similar studies have performed: While similar genome sequencing approaches have shown success in other countries, this specific implementation in France is novel and untested.

Eligibility criteria

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 this trial is running

Angers and 4 other locations

• CHU d'Angers — Angers, France (Not_yet_recruiting)
• CHU Besançon — Besançon, France (Not_yet_recruiting)
• CHU Dijon Bourgogne — Dijon, France (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

Conditions Newborn Screening Programmes for Rare Diseases