Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project

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

Interventions

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)

Sponsors & Collaborators

• Innovative Medicines Initiative

  collaborator OTHER

• Università degli Studi di Ferrara

  collaborator OTHER

• Ospedale Pediatrico Bambin Gesù

  collaborator OTHER

• University of Siena

  collaborator OTHER

• Centre Hospitalier Universitaire Dijon

  collaborator OTHER

• Real Genix

  collaborator UNKNOWN

• University Hospital Goettingen

  collaborator OTHER

• Centro Nacional de Análisis Genómico

  collaborator UNKNOWN

• Genoox

  collaborator UNKNOWN

• Municipal Hospital Karlsruhe

  collaborator UNKNOWN

• Schwarzwald-Baar Hospital

  collaborator UNKNOWN

• Illumina, Inc.

  collaborator INDUSTRY

• Charite University, Berlin, Germany

  collaborator OTHER

• Brno University Hospital

  collaborator OTHER

• General Hospital Of Thessaloniki Ippokratio

  collaborator OTHER

• San Camillo Hospital, Rome

  collaborator OTHER

• University of Rzeszow

  collaborator OTHER

• Hospital San Pietro Fatebenefratelli

  collaborator OTHER

• University Hospital Freiburg

  lead OTHER

Principal Investigators

• Alessandra Ferlini, Professor · Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna

Study Design

Allocation

NA

Purpose

SCREENING

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Max Age

2 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2024-12-03

Primary Completion

2026-12-31

Completion

2026-12-31

Countries

• France
• Germany
• Italy

Study Locations