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Search / Trial NCT06875089

A Pilot Study to Assess the Feasibility and Acceptability of Newborn Screening Using in Silico Panel-based Solo Genome Sequencing in France

Launched by CENTRE HOSPITALIER UNIVERSITAIRE DIJON · Mar 10, 2025

Trial Information

Current as of May 09, 2025

Not yet recruiting

Keywords

ClinConnect Summary

This clinical trial, called the PERIGENOMED Project, is looking into a new way to screen newborns for rare diseases using advanced genome sequencing technology. The goal is to see how well this method works and how acceptable it is for families in France. The trial will focus on screening 2,500 newborns at five healthcare centers, specifically targeting two groups of genes: one for rare diseases that can be treated and another for those that may have future treatment options. The results will help researchers understand the effectiveness of this new screening method and its impact on families, especially those who find out their baby has a rare disease.

To participate in the trial, parents must have a newborn less than 28 days old and be willing to provide consent for testing. Parents will receive information about the study and must agree to the use of their data. The trial is not yet recruiting participants, but it is an exciting step towards potentially improving how newborns are screened for serious health conditions in the future. Families can expect to receive results within four weeks, and the study will also explore how parents feel about the screening process and the results.

Gender

ALL

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 physically 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
  • 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 physically 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

About Centre Hospitalier Universitaire Dijon

The Centre Hospitalier Universitaire Dijon (CHU Dijon) is a leading academic medical institution in France, dedicated to advancing healthcare through innovative research and clinical trials. With a focus on patient-centered care, CHU Dijon integrates comprehensive medical services with cutting-edge research initiatives across various specialties. The institution is committed to enhancing clinical outcomes and improving health standards by facilitating rigorous scientific investigations and collaborations with national and international partners. By prioritizing ethical practices and adherence to regulatory standards, CHU Dijon aims to contribute significantly to the development of new therapies and medical technologies.

Locations

Besançon, , France

Angers, , France

Nantes, , France

Dijon, , France

Rennes, , France

Patients applied

0 patients applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported