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Recruiting NCT06549218

Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project

No phase Interventional Newborn Screening

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: newborn genetic screening and whole genome sequencing.
Who it may be relevant to
Registry conditions: Newborn Screening. Basic parameters: up to 2 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
France, Germany, Italy
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

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

Overview

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.

Interventions

  • Diagnostic test 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)

Primary outcome measures

  • TREAT-panel [Time frame: 1 year]
  • TREAT-panel [Time frame: 1 year]
  • Whole Genome Sequencing [Time frame: 2 years]
  • Whole Genome Sequencing [Time frame: 2 years]
  • Whole Genome Sequencing [Time frame: 2 years]
Secondary outcome measures (9)
  • TREAT-panel [Time frame: 1 year]
  • TREAT-panel [Time frame: 1 year]
  • TREAT-panel [Time frame: 1 year]
  • TREAT-panel [Time frame: 1 year]
  • TREAT-panel [Time frame: 1 year]
  • Whole Genome Sequencing [Time frame: 2 years]
  • Whole Genome Sequencing [Time frame: 2 years]
  • Whole Genome Sequencing [Time frame: 2 years]
  • Whole Genome Sequencing [Time frame: 2 years]

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Allocation
N/A
Model
Single group
Masking
Open label
Primary purpose
Screening

Study locations

Italy · 4 centers
  • Ospedale Pediatrivo Bambino Gesu IRCCS — Rome
  • Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna — Ferrara
  • Azienda Ospedaliero Universitaria di Modena, Neonatology Unit — Modena
  • San Pietro Fatebenefratelli Hospital — Roma
Germany · 3 centers
  • Charité University Medicine Berlin — Berlin
  • Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center — Freiburg im Breisgau
  • University Medical Center Göttingen, Clinic for Neurology — Göttingen
France · 1 center
  • Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malform — Dijon

Publications

  • Fortunato F, Selvatici R, Kirschner J, Sansen S, Agolini E, Ottombrino S, Bertini E, Novelli A, Einhorn M, Matalonga L, Beltran S, Gut IG, Pereira AM, Hiort O, Schaefer F, Verloes A, Lohse AW, Wilde AAM, Bodemer C, Jondeau G, Dollfus H, Graessner H, Mathijssen IMJ, L'khssim I, Blay JY, Sangiorgi L, Fenaux P, Manu Pereira MDM, Gutierrez Valle V, Mosca M, Hoogerbrugge N, Wijnen R, Evangelista T, D'A PMID 42359128

Identifiers

NCT: NCT06549218 · 101034427

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗