Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project

NCT06549218 | Recruiting

• 1 other identifier: 101034427
• Study Type: interventional
• Target: 20,000
• Locations: 3 countries
• Sites: 8

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.

Conditions

Newborn Screening

Outcome Measures

Primary Outcomes (5)

• 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

Secondary Outcomes (9)

• TREAT-panel

  1 year

• TREAT-panel

  1 year

• TREAT-panel

  1 year

• TREAT-panel

  1 year

• TREAT-panel

  1 year

Study Arms (1)

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.

Diagnostic Test: newborn genetic screening and whole genome sequencing

Interventions

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)

newborn screening

Eligibility Criteria

• Age: Up to 2 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)

You may qualify if:

• 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

You may not qualify if:

• Missing informed consent of parents/legal guardian

Sponsors & Collaborators

• Ospedale Pediatrico Bambin Gesù: collaborator
• Real Genix: collaborator
• University Hospital Goettingen: collaborator
• Centro Nacional de Análisis Genómico: collaborator
• Genoox: collaborator
• Municipal Hospital Karlsruhe: collaborator
• Illumina, Inc.: collaborator
• Charite University, Berlin, Germany: collaborator
• Brno University Hospital: collaborator
• General Hospital Of Thessaloniki Ippokratio: collaborator
• University of Rzeszow: collaborator
• Hospital San Pietro Fatebenefratelli: collaborator
• University Hospital Freiburg: lead
• Innovative Medicines Initiative: collaborator
• Università degli Studi di Ferrara: collaborator
• University of Siena: collaborator
• Centre Hospitalier Universitaire Dijon: collaborator
• Schwarzwald-Baar Hospital: collaborator
• San Camillo Hospital, Rome: collaborator

Study Sites (8)

Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants

Dijon, 21079, France

COMPLETED

Charité University Medicine Berlin

Berlin, 13353, Germany

RECRUITING

Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center

Freiburg im Breisgau, 79106, Germany

RECRUITING

University Medical Center Göttingen, Clinic for Neurology

Göttingen, 37075, Germany

RECRUITING

Ospedale Pediatrivo Bambino Gesu IRCCS

Rome, Lazio, 00165, Italy

RECRUITING

Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna

Ferrara, 44122, Italy

COMPLETED

Azienda Ospedaliero Universitaria di Modena, Neonatology Unit

Modena, 41100, Italy

RECRUITING

San Pietro Fatebenefratelli Hospital

Roma, 00189, Italy

RECRUITING

Study Officials

• Alessandra Ferlini, Professor

  Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Alessandra Ferlini, Professor

CONTACT

+39 0532 974439; screen4care@unife.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. Dr.

Study Record Dates

• First Submitted: July 29, 2024
• First Posted: August 12, 2024
• Study Start: December 3, 2024
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: May 4, 2026

Record last verified: 2025-07

Locations

FR (1); IT (4); DE (3)