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| Name | Class |
|---|---|
| Innovative Medicines Initiative | OTHER |
| Università degli Studi di Ferrara | OTHER |
| Ospedale Pediatrico Bambin Gesù | OTHER |
| University of Siena |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| newborn screening | Other | 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| newborn genetic screening and whole genome sequencing | Diagnostic Test | newborn genetic screening (panel of treatable diseases); whole genome sequencing (if newborn develops symptoms suggestive of a genetic disease) |
| Measure | Description | Time Frame |
|---|---|---|
| TREAT-panel | • Percentage of eligible couples who will accept to participate to the genetic newborn screening | 1 year |
| TREAT-panel | • Percentage of infants in whom pathogenic or likely pathogenic variants that predict one of the target diseases will be identified | 1 year |
| Whole Genome Sequencing | • Percentage of symptomatic patients whom parents will accept to be enrolled in whole genome sequencing | 2 years |
| Whole Genome Sequencing | • Percentage of known disease genes where pathogenic variations will be identified by whole genome sequencing in enrolled patients | 2 years |
| Whole Genome Sequencing | • Percentage of infants where genetic diagnosis is achieved by whole genome sequencing | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| TREAT-panel | • Clinical follow-up of infants with positive findings in gNBS | 1 year |
| TREAT-panel | • Impact of genetic NBS on parents as assessed by standardized questionnaires |
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Inclusion Criteria:
TREAT-panel:
Whole genome sequencing:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Alessandra Ferlini, Professor | Contact | +39 0532 974439 | screen4care@unife.it |
| Name | Affiliation | Role |
|---|---|---|
| Alessandra Ferlini, Professor | Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants | Completed | Dijon | 21079 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 42359128 | Derived | Fortunato F, Selvatici R, Kirschner J, Sansen S, Agolini E, Ottombrino S, Bertini E, Novelli A, Einhorn M, Matalonga L, Beltran S, Gut IG, Pereira AM, Hiort O, Schaefer F, Verloes A, Lohse AW, Wilde AAM, Bodemer C, Jondeau G, Dollfus H, Graessner H, Mathijssen IMJ, L'khssim I, Blay JY, Sangiorgi L, Fenaux P, Manu Pereira MDM, Gutierrez Valle V, Mosca M, Hoogerbrugge N, Wijnen R, Evangelista T, D'Angelo C, Wagner TOF, Feitz WFJ, Ladenstein R, Dobai Z, Wulffraat N, Ruperto N, Jara Vega P, Bellettato CM, Scarpa M, Onali M, Tchaicha S, Arzimanoglou A, Oh J, Lenz D, Tumiene B, Zygmunt A, Ferlini A. European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework. Front Public Health. 2026 Jun 10;14:1822461. doi: 10.3389/fpubh.2026.1822461. eCollection 2026. |
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| OTHER |
| Centre Hospitalier Universitaire Dijon | OTHER |
| Real Genix | UNKNOWN |
| University Hospital Goettingen | OTHER |
| Centro Nacional de Análisis Genómico | UNKNOWN |
| Genoox | UNKNOWN |
| Municipal Hospital Karlsruhe | UNKNOWN |
| Schwarzwald-Baar Hospital | UNKNOWN |
| Illumina, Inc. | INDUSTRY |
| Charite University, Berlin, Germany | OTHER |
| Brno University Hospital | OTHER |
| General Hospital Of Thessaloniki Ippokratio | OTHER |
| San Camillo Hospital, Rome | OTHER |
| University of Rzeszow | OTHER |
| Hospital San Pietro Fatebenefratelli | OTHER |
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| 1 year |
| TREAT-panel | • Carrier frequency of recessive diseases (both autosomal and X-linked) and percentage of variants of unknown significance identified through gNBS. | 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) | 1 year |
| TREAT-panel | • Impact of positive findings in gNBS on the health care and outcome of study participants | 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 | 2 years |
| Whole Genome Sequencing | • Number of VUS identified in known disease genes | 2 years |
| Whole Genome Sequencing | • Number of VUS identified in novel disease genes/phenotypes | 2 years |
| Whole Genome Sequencing | • Diagnostic yield of Whole Genome Sequencing compared to genetic newborn screening | 2 years |
| Charité University Medicine Berlin | Recruiting | Berlin | 13353 | Germany |
|
| Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center | Recruiting | Freiburg im Breisgau | 79106 | Germany |
|
| University Medical Center Göttingen, Clinic for Neurology | Recruiting | Göttingen | 37075 | Germany |
|
| Ospedale Pediatrivo Bambino Gesu IRCCS | Recruiting | Rome | Lazio | 00165 | Italy |
|
| Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna | Completed | Ferrara | 44122 | Italy |
| Azienda Ospedaliero Universitaria di Modena, Neonatology Unit | Recruiting | Modena | 41100 | Italy |
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| San Pietro Fatebenefratelli Hospital | Recruiting | Roma | 00189 | Italy |
|