An interventional study of newborn genetic screening and whole genome sequencing in Newborn Screening, sponsored by University Hospital Freiburg. Recruiting at 8 sites in 3 countries. Open to participants aged Up to 2 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-05-04.
Sponsored by University Hospital Freiburg · Not applicable, Interventional, and Screening
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.
University Hospital Freiburg is the lead sponsor of 94 studies on the registry; 18 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
TREAT-panel:
Whole genome sequencing:
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
All newborns participating in the study will receive a genetic newborn screening for predefined treatable diseases. Newborns participating in the TREAT-panel developing symptoms suggestive of a genetic disease during the first 2 years of life can receive whole genome sequencing.
Diagnostic Test: 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)
TREAT-panel
• Percentage of eligible couples who will accept to participate to the genetic newborn screening
Time frame: 1 year
TREAT-panel
• Percentage of infants in whom pathogenic or likely pathogenic variants that predict one of the target diseases will be identified
Time frame: 1 year
Whole Genome Sequencing
• Percentage of symptomatic patients whom parents will accept to be enrolled in whole genome sequencing
Time frame: 2 years
Whole Genome Sequencing
• Percentage of known disease genes where pathogenic variations will be identified by whole genome sequencing in enrolled patients
Time frame: 2 years
Whole Genome Sequencing
• Percentage of infants where genetic diagnosis is achieved by whole genome sequencing
Time frame: 2 years
TREAT-panel
• Clinical follow-up of infants with positive findings in gNBS
Time frame: 1 year
TREAT-panel
• Impact of genetic NBS on parents as assessed by standardized questionnaires
Time frame: 1 year
TREAT-panel
• Carrier frequency of recessive diseases (both autosomal and X-linked) and percentage of variants of unknown significance identified through gNBS.
Time frame: 1 year
TREAT-panel
• 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)
Time frame: 1 year
TREAT-panel
• Impact of positive findings in gNBS on the health care and outcome of study participants
Time frame: 1 year
Whole Genome Sequencing
• Percentage of novel disease genes (phenotype discovery) where pathogenic variations will be identified by Whole Genome Sequencing in enrolled patients
Time frame: 2 years
Whole Genome Sequencing
• Number of VUS identified in known disease genes
Time frame: 2 years
Whole Genome Sequencing
• Number of VUS identified in novel disease genes/phenotypes
Time frame: 2 years
Whole Genome Sequencing
• Diagnostic yield of Whole Genome Sequencing compared to genetic newborn screening
Time frame: 2 years
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University Hospital Freiburg