Newborn Screening
Conditions
Brief 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.
Interventions
DIAGNOSTIC_TESTnewborn 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)
Sponsors
University Hospital Freiburg
Innovative Medicines Initiative
Università degli Studi di Ferrara
Ospedale Pediatrico Bambin Gesù
University of Siena
Centre Hospitalier Universitaire Dijon
Real Genix
University Hospital Goettingen
Centro Nacional de Análisis Genómico
Genoox
Municipal Hospital Karlsruhe
Schwarzwald-Baar Hospital
Illumina, Inc.
Charite University, Berlin, Germany
Brno University Hospital
General Hospital Of Thessaloniki Ippokratio
San Camillo Hospital, Rome
University of Rzeszow
Hospital San Pietro Fatebenefratelli
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
No minimum to 2 Years
Healthy volunteers
Yes
Inclusion criteria
* TREAT-panel: * 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) * Whole genome sequencing: * Participation in the TREAT-panel study * Symptoms suggestive of a genetic disease within the first 2 years of life * 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| TREAT-panel | 1 year | • Percentage of eligible couples who will accept to participate to the genetic newborn screening |
| Whole Genome Sequencing | 2 years | • Percentage of symptomatic patients whom parents will accept to be enrolled in whole genome sequencing |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| TREAT-panel | 1 year | • Clinical follow-up of infants with positive findings in gNBS |
| Whole Genome Sequencing | 2 years | • Percentage of novel disease genes (phenotype discovery) where pathogenic variations will be identified by Whole Genome Sequencing in enrolled patients |
Countries
France, Germany, Italy
Contacts
CONTACTAlessandra Ferlini, Professor
PRINCIPAL_INVESTIGATORAlessandra Ferlini, Professor
Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
Outcome results
None listed