Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project

Last updated: July 24, 2025
Sponsor: University Hospital Freiburg
Overall Status: Active - Recruiting

Phase

N/A

Condition

Holoprosencephaly

Neuronal Ceroid Lipofuscinoses (Ncl)

Treatment

newborn genetic screening and whole genome sequencing

Clinical Study ID

NCT06549218
101034427
  • Ages < 2
  • All Genders
  • Accepts Healthy Volunteers

Study 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 Criteria

Inclusion

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 ingenetic 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 ingenetic newborn screening (TREAT-panel) and the whole genome sequencing

Exclusion

Exclusion Criteria:

  • Missing informed consent of parents/legal guardian

Study Design

Total Participants: 20000
Treatment Group(s): 1
Primary Treatment: newborn genetic screening and whole genome sequencing
Phase:
Study Start date:
December 03, 2024
Estimated Completion Date:
December 31, 2025

Connect with a study center

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

    Dijon, 21079
    France

    Active - Recruiting

  • Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center

    Freiburg, 79106
    Germany

    Active - Recruiting

  • Ospedale Pediatrivo Bambino Gesu IRCCS

    Rome, Lazio 00165
    Italy

    Active - Recruiting

  • Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna

    Ferrara, 44122
    Italy

    Active - Recruiting

  • Azienda Ospedaliero Universitaria di Modena, Neonatology Unit

    Modena, 41100
    Italy

    Active - Recruiting

  • San Pietro Fatebenefratelli Hospital

    Roma, 00189
    Italy

    Active - Recruiting

  • Università degli Studi Di Siena

    Siena, 53100
    Italy

    Site Not Available

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