Genetic Newborn Screening for Rare Diseases within the Screen4Care Project
- Conditions
- genetic newborn screening
- Registration Number
- DRKS00033501
- Lead Sponsor
- niversitätsklinikum Freiburg; Klinik für Neuropädiatrie und Muskelerkrankungen
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- All
- Target Recruitment
- 20000
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
Missing informed consent of parents/legal guardian
Study & Design
- Study Type
- observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method TREAT-panel:<br>•Percentage of eligible couples who will accept to participate to the genetic newborn screening<br>•Percentage of infants in whom pathogenic or likely pathogenic variants that predict one of the target diseases will be identified<br><br>Whole Genome Sequencing:<br>•Percentage of symptomatic patients whom parents will accept to be enrolled in whole genome sequencing<br>•Percentage of known disease genes where pathogenic variations will be identified by whole genome sequencing in enrolled patients<br>•Percentage of infants where genetic diagnosis is achieved by whole genome sequencing
- Secondary Outcome Measures
Name Time Method TREAT-panel:<br>•Clinical follow-up of infants with positive findings in gNBS<br>•Impact of genetic NBS on parents as assessed by standardized questionnaires<br>•Carrier frequency of recessive diseases (both autosomal and X-linked) and percentage of variants of unknown significance identified through gNBS.<br>•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)<br>•Impact of positive findings in gNBS on the health care and outcome of study participants<br><br>Whole Genome Sequencing:<br>•Percentage of novel disease genes (phenotype discovery) where pathogenic variations will be identified by Whole Genome Sequencing in enrolled patients<br>•Number of VUS identified in known disease genes<br>•Number of VUS identified in novel disease genes/phenotypes<br>•Diagnostic yield of Whole Genome Sequencing compared to genetic newborn screening