SCREEN4CARE
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 study identifier
interventional
20,000
3 countries
8
Study Start
December 3, 2024
Actual (reported)Primary Completion
December 2026
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
December 2026
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
December 2026
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Click on a node to explore related trials.
Some registry-reported names shown below are not yet linked in this graph.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
July 29, 2024
Actual (reported)August 12, 2024
Actual (reported)December 3, 2024
Actual (reported)December 2026
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
December 2026
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
TREAT-panel
• Percentage of eligible couples who will accept to participate to the genetic newborn screening
1 year
TREAT-panel
• Percentage of infants in whom pathogenic or likely pathogenic variants that predict one of the target diseases will be identified
1 year
Whole Genome Sequencing
• Percentage of symptomatic patients whom parents will accept to be enrolled in whole genome sequencing
2 years
Whole Genome Sequencing
• Percentage of known disease genes where pathogenic variations will be identified by whole genome sequencing in enrolled patients
2 years
Whole Genome Sequencing
• Percentage of infants where genetic diagnosis is achieved by whole genome sequencing
2 years
TREAT-panel
1 year
TREAT-panel
1 year
TREAT-panel
1 year
TREAT-panel
1 year
TREAT-panel
1 year
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 (panel of treatable diseases); whole genome sequencing (if newborn develops symptoms suggestive of a genetic disease)
Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.
Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants
Dijon, 21079, France
Charité University Medicine Berlin
Berlin, 13353, Germany
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'Angelo C, Wagner TOF, Feitz WFJ, Ladenstein R, Dobai Z, Wulffraat N, Ruperto N, Jara Vega P, Bellettato CM, Scarpa M, Onali M, Tchaicha S, Arzimanoglou A, Oh J, Lenz D, Tumiene B, Zygmunt A, Ferlini A. European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework. Front Public Health. 2026 Jun 10;14:1822461. doi: 10.3389/fpubh.2026.1822461. eCollection 2026.
Alessandra Ferlini, Professor
Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
First Submitted
July 29, 2024
First Posted
August 12, 2024
Study Start
December 3, 2024
Actual (reported)Primary Completion
December 2026
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Autonomic Nervous System Reactivity of the Newborn After a Nociceptive Stress: Interest of Sucrose and Non-nutritive Sucking
Contact the study team to confirm eligibility.
Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center
Freiburg im Breisgau, 79106, Germany
University Medical Center Göttingen, Clinic for Neurology
Göttingen, 37075, Germany
Ospedale Pediatrivo Bambino Gesu IRCCS
Rome, Lazio, 00165, Italy
Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
Ferrara, 44122, Italy
Azienda Ospedaliero Universitaria di Modena, Neonatology Unit
Modena, 41100, Italy
San Pietro Fatebenefratelli Hospital
Roma, 00189, Italy
Study Completion
December 2026
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
May 4, 2026
Record last verified: 2025-07
Download the complete ClinicalTrials.gov record imported by Syfrah, including fields not shown in this page. The registry may contain a newer revision.
Source: ClinicalTrials.gov.
JSON downloads include source attribution and retrieval details alongside the unchanged original record or the separately normalized values.
Source retrieved: