Clinical trial NCT06549218: Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
Official title: 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
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Newborn Screening
Lead sponsor: University Hospital Freiburg
Sponsor class: OTHER
Collaborators: name: Innovative Medicines Initiative
name: Università degli Studi di Ferrara
name: Ospedale Pediatrico Bambin Gesù
name: University of Siena
name: Centre Hospitalier Universitaire Dijon
name: Real Genix
name: University Hospital Erlangen
name: University Hospital Goettingen
name: Centro Nacional de Análisis Genómico
name: Genoox
First posted: 2024-08-12
Enrollment: 20000
Sex: ALL
Maximum age (years): 2
Standard ages: CHILD
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: SCREENING

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.


Eligibility criteria: 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

Primary outcomes:
measure: TREAT-panel
timeFrame: 1 year
measure: TREAT-panel
timeFrame: 1 year
measure: Whole Genome Sequencing
timeFrame: 2 years
measure: Whole Genome Sequencing
timeFrame: 2 years
measure: Whole Genome Sequencing
timeFrame: 2 years
Secondary outcomes:
measure: TREAT-panel
timeFrame: 1 year
measure: TREAT-panel
timeFrame: 1 year
measure: TREAT-panel
timeFrame: 1 year
measure: TREAT-panel
timeFrame: 1 year
measure: TREAT-panel
timeFrame: 1 year
measure: Whole Genome Sequencing
timeFrame: 2 years
measure: Whole Genome Sequencing
timeFrame: 2 years
measure: Whole Genome Sequencing
timeFrame: 2 years
measure: Whole Genome Sequencing
timeFrame: 2 years
Other outcomes:
Locations:
city: Dijon
country: France
facility: Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants
city: Freiburg
country: Germany
facility: Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center
city: Rome
country: Italy
facility: Ospedale Pediatrivo Bambino Gesu IRCCS
state: Lazio
city: Ferrara
country: Italy
facility: Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
city: Siena
country: Italy
facility: Università degli Studi Di Siena
Study officials:
affiliation: Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
name: Alessandra Ferlini, Professor
role: PRINCIPAL_INVESTIGATOR
References: