Genetic Newborn Screening for Rare Diseases within the Screen4Care Project

Genetic Newborn Screening for Rare Diseases within the Screen4Care Project - Screen4Care

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00033501

Enrollment

18000

Registered

2024-07-23

Start date

2025-04-30

Completion date

Unknown

Last updated

2026-03-30

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

genetic newborn screening

Interventions

Group 1: Genetic Newborn Screening for Rare Diseases

Eligibility

Sex/Gender

All

Age

No minimum to 2 Months

Inclusion criteria

Inclusion criteria: TREAT-panel: • Infants born in one of the participating hospitals and birth centres • Informed consent signed by both parents/legal guardian to participate in genetic newborn screening (TREAT-panel) Whole genome sequencing: • Participation in the TREAT-panel study • Symptoms suggestive of a genetic disease • Informed consent signed by both parents/legal guardian to participate in genetic newborn screening (TREAT-panel) and the whole genome sequencing

Exclusion criteria

Exclusion criteria: Missing informed consent of parents/legal guardian

Design outcomes

Primary

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

Measure

Time frame

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

—

Secondary

Measure	Time frame
TREAT-panel: • Clinical follow-up of infants with positive findings in gNBS • Impact of genetic NBS on parents as assessed by standardized questionnaires • Carrier frequency of recessive diseases (both autosomal and X-linked) and percentage of variants of unknown significance identified through gNBS. • Percentage of study participants who develop symptoms of a genetic disease after negative newborn screening and are diagnosed by whole genome sequencing (aggregated data analysis, not reported to participants) • Impact of positive findings in gNBS on the health care and outcome of study participants Whole Genome Sequencing: • Percentage of novel disease genes (phenotype discovery) where pathogenic variations will be identified by Whole Genome Sequencing in enrolled patients • Number of VUS identified in known disease genes • Number of VUS identified in novel disease genes/phenotypes • Diagnostic yield of Whole Genome Sequencing compared to genetic newborn screening	—

Measure

Time frame

TREAT-panel: • Clinical follow-up of infants with positive findings in gNBS • Impact of genetic NBS on parents as assessed by standardized questionnaires • Carrier frequency of recessive diseases (both autosomal and X-linked) and percentage of variants of unknown significance identified through gNBS. • Percentage of study participants who develop symptoms of a genetic disease after negative newborn screening and are diagnosed by whole genome sequencing (aggregated data analysis, not reported to participants) • Impact of positive findings in gNBS on the health care and outcome of study participants Whole Genome Sequencing: • Percentage of novel disease genes (phenotype discovery) where pathogenic variations will be identified by Whole Genome Sequencing in enrolled patients • Number of VUS identified in known disease genes • Number of VUS identified in novel disease genes/phenotypes • Diagnostic yield of Whole Genome Sequencing compared to genetic newborn screening

—

Countries

France, Germany, Italy

Contacts

Public ContactJanbernd Kirschner

Universitätsklinikum Freiburg; Klinik für Neuropädiatrie und Muskelerkrankungen

Zkj.direktion-neuropaediatrie@uniklinik-freiburg.de+49 761 270 43150

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Apr 4, 2026