ClinicalTrialsFinder
RecruitingNot ApplicableNCT06549218

Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project

Shortening the Path to Rare Disease Diagnosis by Using Newborn Genetic Screening and Digital Technologies (SCREEN4CARE): Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project

Sponsor

University Hospital Freiburg

Enrollment

20,000 participants

Start Date

Dec 3, 2024

Study Type

INTERVENTIONAL

Conditions

Newborn Screening

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.

Eligibility

Max Age: 2 Years

Inclusion Criteria8

  • 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 Criteria1

  • Missing informed consent of parents/legal guardian

Interested in this trial?

Get notified about updates and connect with the research team.

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)

Locations(8)

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

Dijon, France

Charité University Medicine Berlin

Berlin, Germany

Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center

Freiburg im Breisgau, Germany

University Medical Center Göttingen, Clinic for Neurology

Göttingen, Germany

Ospedale Pediatrivo Bambino Gesu IRCCS

Rome, Lazio, Italy

Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna

Ferrara, Italy

Azienda Ospedaliero Universitaria di Modena, Neonatology Unit

Modena, Italy

San Pietro Fatebenefratelli Hospital

Roma, Italy

View Full Details on ClinicalTrials.gov

For the most up-to-date information, visit the official listing.

Visit

NCT06549218