Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
NCT ID: NCT06549218
Last Updated: 2025-07-29
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
NA
20000 participants
INTERVENTIONAL
2024-12-03
2025-12-31
Brief Summary
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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.
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Detailed Description
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Conditions
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Study Design
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NA
SINGLE_GROUP
SCREENING
NONE
Study Groups
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newborn screening
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.
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)
Interventions
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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)
Eligibility Criteria
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Inclusion Criteria
* 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
2 Years
ALL
Yes
Sponsors
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Innovative Medicines Initiative
OTHER
Università degli Studi di Ferrara
OTHER
Ospedale Pediatrico Bambin Gesù
OTHER
University of Siena
OTHER
Centre Hospitalier Universitaire Dijon
OTHER
Real Genix
UNKNOWN
University Hospital Goettingen
OTHER
Centro Nacional de Análisis Genómico
UNKNOWN
Genoox
UNKNOWN
Schwarzwald-Baar Clinic
UNKNOWN
Municipal Hospital Karlsruhe
UNKNOWN
University Hospital Freiburg
OTHER
Responsible Party
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Jan Kirschner
Prof. Dr.
Principal Investigators
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Alessandra Ferlini, Professor
Role: PRINCIPAL_INVESTIGATOR
Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
Locations
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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 im Breisgau, , 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
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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101034427
Identifier Type: -
Identifier Source: org_study_id
NCT06528548
Identifier Type: -
Identifier Source: nct_alias
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