Trial Now Recruiting: Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project (NCT06549218)

WHY IT MATTERS

This trial offers families the chance to screen their newborn for treatable rare genetic diseases before symptoms appear, potentially preventing serious complications through early intervention.

Researchers are recruiting 20,000 newborns to test their DNA for rare diseases that can be treated early in life. Babies will get a special genetic test called whole genome sequencing if they show symptoms of a genetic condition. The goal is to find these diseases faster so doctors can start treatment right away, before serious problems develop.

NCT ID: NCT06549218 Status: RECRUITING Conditions: Newborn Screening Phase: NA Enrollment: 20000 Sponsor: University Hospital Freiburg Summary: The main objective of the genetic newborn screening part of the Screen4Care-project is to shorten the path to rare disease diagnosis and to facilitate early intervention. Therefore, genetic newborn screening for currently treatable rare diseases (TREAT-panel approach) will be offered to families expecting a baby. Whole genome sequencing (WGS) will be offered as additional diagnostic approach to newborns participating in Screen4Care TREAT-panel approach, if they develop symptoms suggestive of a g

YOU CAN ACT ON THIS

If you are expecting a baby in Germany, contact University Hospital Freiburg or visit clinicaltrials.gov (NCT06549218) to learn if your family qualifies for enrollment.