Trial Now Recruiting: A Pilot Study to Assess the Feasibility and Acceptability of Newborn Screening Using in Silico Panel-based Solo Genome Sequencing in France (NCT06875089)

WHY IT MATTERS

This trial could expand newborn screening in France to detect dozens of additional rare genetic diseases at birth, potentially allowing earlier treatment and better health outcomes for babies with conditions that currently go undiagnosed until symptoms appear.

Researchers in France are recruiting 5,000 newborns to test a new way of screening for rare diseases using genome sequencing—a complete reading of a baby's DNA. Instead of the current blood spot tests that check for only a few dozen conditions, this study will see if reading a baby's entire genome can safely and effectively find many more rare genetic diseases at birth. This is one of the first major studies in Europe to test this approach.

NCT ID: NCT06875089 Status: RECRUITING Conditions: Newborn Screening Programmes for Rare Diseases Enrollment: 5000 Sponsor: Centre Hospitalier Universitaire Dijon 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 discussed the opportunities and challenges of using GS for NBS. To date, only two Chinese programs have published their results, the first on a series of 29,601 healthy newborns and the second on a series of 10,334 healthy newborns and 668 high-risk infants. Globally, more than twenty pilot project

YOU CAN ACT ON THIS

If you are a parent of a newborn in France or have access to French healthcare, contact Centre Hospitalier Universitaire Dijon to ask if your baby is eligible for enrollment in this study (NCT06875089).