Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project

Not Applicable

Recruiting

• Conditions: Newborn Screening
• Interventions: Diagnostic Test: newborn genetic screening and whole genome sequencing

• Registration Number: NCT06549218
• Lead Sponsor: University Hospital Freiburg

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2024-07-29
• Study First Submitted QC: 2024-08-07
• Study First Posted: 2024-08-12
• Study Start: 2024-12-03
• Status Verified: 2025-01
• Last Update Submitted: 2025-03-19
• Last Update Posted: 2025-03-20
• Primary Completion: 2025-12
• Study Completion: 2025-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 20000

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
newborn screening	newborn genetic screening and whole genome sequencing	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.

Primary Outcome Measures

Name	Time	Method
TREAT-panel	1 year	• Percentage of infants in whom pathogenic or likely pathogenic variants that predict one of the target diseases will be identified
Whole Genome Sequencing	2 years	• Percentage of infants where genetic diagnosis is achieved by whole genome sequencing

Secondary Outcome Measures

Name	Time	Method
TREAT-panel	1 year	• Impact of positive findings in gNBS on the health care and outcome of study participants
Whole Genome Sequencing	2 years	• Diagnostic yield of Whole Genome Sequencing compared to genetic newborn screening

Trial Locations

Locations (5)

Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants; 🇫🇷 Dijon, France

Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center; 🇩🇪 Freiburg, Germany

Ospedale Pediatrivo Bambino Gesu IRCCS; 🇮🇹 Rome, Lazio, Italy

Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna; 🇮🇹 Ferrara, Italy

Università degli Studi Di Siena; 🇮🇹 Siena, Italy