Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
ConditionNewborn Screening
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
AgeUp to 2
SponsorUniversity Hospital Freiburg
About this trial
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 criteria
This trial accepts healthy volunteersQualifiers
newborns
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)
Participation in the TREAT-panel study
Disqualifiers
Missing informed consent of parents/legal guardian
Trial design
Design model
Single group
Treatments tested in this trial
newborn genetic screening and whole genome sequencing
Diagnostic testnewborn genetic screening (panel of treatable diseases); whole genome sequencing (if newborn develops symptoms suggestive of a genetic disease)
Treatment groups
20,000 Participants
are divided into 1 treatment groupGroup A: newborn screeningOther 1 intervention
Trial outcomes
Primary outcomes
1
TREAT-panel
• Percentage of eligible couples who will accept to participate to the genetic newborn screening
Time frame
1 year2
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 year3
Whole Genome Sequencing
• Percentage of symptomatic patients whom parents will accept to be enrolled in whole genome sequencing
Time frame
2 years4
Whole Genome Sequencing
• Percentage of known disease genes where pathogenic variations will be identified by whole genome sequencing in enrolled patients
Time frame
2 yearsSecondary outcomes
1
TREAT-panel
• Clinical follow-up of infants with positive findings in gNBS
Time frame
1 year2
TREAT-panel
• Impact of genetic NBS on parents as assessed by standardized questionnaires
Time frame
1 year3
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 year4
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 yearSponsors and contacts
Click on the lead sponsor to view all of their trials.
University Hospital Freiburg
Lead sponsor
Innovative Medicines Initiative
Collaborator
Università degli Studi di Ferrara
Collaborator
Ospedale Pediatrico Bambin Gesù
Collaborator
University of Siena
Collaborator
Centre Hospitalier Universitaire Dijon
Collaborator
Real Genix
Collaborator
University Hospital Goettingen
Collaborator
Centro Nacional de Análisis Genómico
Collaborator
Genoox
Collaborator
Municipal Hospital Karlsruhe
Collaborator
Schwarzwald-Baar Hospital
Collaborator
Illumina, Inc.
Collaborator
Charite University, Berlin, Germany
Collaborator
Brno University Hospital
Collaborator
General Hospital Of Thessaloniki Ippokratio
Collaborator
San Camillo Hospital, Rome
Collaborator
University of Rzeszow
Collaborator
Hospital San Pietro Fatebenefratelli
Collaborator
Source ClinicalTrials.gov