Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project

Condition(s) studied

Investigational drug(s) / intervention(s)

newborn genetic screening and whole genome sequencing: newborn genetic screening (panel of treatable diseases); whole genome sequencing (if newborn develops symptoms suggestive of a genetic disease)

Study 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 genetic disease.

To evaluate to what extend genetic newborn screening has an impact on participating infants and their families, a follow-up with standardised questionnaires will be performed for all participating families.

Eligibility

Primary outcome measure(s)

• TREAT-panel — 1 year
  • Percentage of eligible couples who will accept to participate to the genetic newborn screening
• TREAT-panel — 1 year
  • Percentage of infants in whom pathogenic or likely pathogenic variants that predict one of the target diseases will be identified
• Whole Genome Sequencing — 2 years
  • Percentage of symptomatic patients whom parents will accept to be enrolled in whole genome sequencing
• Whole Genome Sequencing — 2 years
  • Percentage of known disease genes where pathogenic variations will be identified by whole genome sequencing in enrolled patients
• Whole Genome Sequencing — 2 years
  • Percentage of infants where genetic diagnosis is achieved by whole genome sequencing

Trial sites (8)

More University Hospital Freiburg trials in Germany