Newborn ScreeningSCREEN4CARENCT06549218
Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
A study testing newborn genetic screening and whole genome sequencing in people with Newborn Screening, run by University Hospital Freiburg at 8 sites in 3 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 2 yearsHealthy volunteers can take part
- Conditions the study is for
- Newborn Screening
- What is being tested?
- newborn genetic screening and whole genome sequencing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20,000 participants
- Where
- 8 sitesin 3 countries
- Study dates
- 3 Dec 2024to Dec 2026
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 2 years
- All sexes
- Healthy volunteers accepted
- Child
Who may be able to join
- 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
Who cannot join
- Missing informed consent of parents/legal guardian
Trial locations and contacts
8 sites in 3 countries. Contact the study team or a site near you to ask about taking part.
8 sites in 3 countries
Italy4 sites, 3 recruiting
- Completed
Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
Ferrara, 44122
- Recruiting
Azienda Ospedaliero Universitaria di Modena, Neonatology Unit
Modena, 41100
Prof. Alberto Berardi, alberto.berardi@unimore.it
Dr Licia Lugli, licia.lugli@gmail.com
- Recruiting
San Pietro Fatebenefratelli Hospital
Roma, 00189
Prof. Marco Bonito, UOC Obstetrics and Gynecology, bonito.marco@fbfrm.it
Dott.ssa Maria Eleonora Scapillati, UOC Pediatrics and Neonatology, scapillati.eleonora@fbfrm.it
- Recruiting
Ospedale Pediatrivo Bambino Gesu IRCCS
Rome, Lazio, 00165
Enrico S Bertini, +39 0668592104, enricosilvio.bertini@opbg.net
Germany3 sites, 3 recruiting
- Recruiting
Charité University Medicine Berlin
Berlin, 13353
Peter Kühnen, Prof. Dr., 0049 30 450 666 839, peter.kuehnen@charite.de
Janka K Hindricks, Dr., janka-katharina.hindricks@charite.de
- Recruiting
Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center
Freiburg im Breisgau, 79106
Janbernd Kirschner, Professor, +49 761 270-43650, kjk.screen4care@uniklinik-freiburg.de
Kathrin Freyler, Dr., kathrin.freyler@uniklinik-freiburg.de
- Recruiting
University Medical Center Göttingen, Clinic for Neurology
Göttingen, 37075
Jana Zschüntzsch, Priv.-Doz. Dr., 00495513965167, j.zschuentzsch@med.uni-goettingen.de
Elisabeth Nyoungui, elisabeth.nyoungui@med.uni-goettingen.de
France1 site
- Completed
Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants
Dijon, 21079
About this study
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
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.
- Conditions
- Newborn Screening
- Being tested
- newborn genetic screening and whole genome sequencing
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
newborn genetic screening and whole genome sequencingDiagnostic test
newborn genetic screening (panel of treatable diseases); whole genome sequencing (if newborn develops symptoms suggestive of a genetic disease)
| Study group | Role | What they receive |
|---|---|---|
| newborn screening | Other | 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. Receives: Diagnostic Test: newborn genetic screening and whole genome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
TREAT-panel
- Percentage of eligible couples who will accept to participate to the genetic newborn screening
Measured: 1 year
TREAT-panel
- Percentage of infants in whom pathogenic or likely pathogenic variants that predict one of the target diseases will be identified
Measured: 1 year
Whole Genome Sequencing
- Percentage of symptomatic patients whom parents will accept to be enrolled in whole genome sequencing
Measured: 2 years
Whole Genome Sequencing
- Percentage of known disease genes where pathogenic variations will be identified by whole genome sequencing in enrolled patients
Measured: 2 years
Whole Genome Sequencing
- Percentage of infants where genetic diagnosis is achieved by whole genome sequencing
Measured: 2 years
Secondary outcomes (9)
TREAT-panel
- Clinical follow-up of infants with positive findings in gNBS
Measured: 1 year
TREAT-panel
- Impact of genetic NBS on parents as assessed by standardized questionnaires
Measured: 1 year
TREAT-panel
- Carrier frequency of recessive diseases (both autosomal and X-linked) and percentage of variants of unknown significance identified through gNBS.
Measured: 1 year
TREAT-panel
- Percentage of study participants who develop symptoms of a genetic disease after negative newborn screening and are diagnosed by whole genome sequencing (aggregated data analysis, not reported to participants)
Measured: 1 year
TREAT-panel
- Impact of positive findings in gNBS on the health care and outcome of study participants
Measured: 1 year
Whole Genome Sequencing
- Percentage of novel disease genes (phenotype discovery) where pathogenic variations will be identified by Whole Genome Sequencing in enrolled patients
Measured: 2 years
Whole Genome Sequencing
- Number of VUS identified in known disease genes
Measured: 2 years
Whole Genome Sequencing
- Number of VUS identified in novel disease genes/phenotypes
Measured: 2 years
Whole Genome Sequencing
- Diagnostic yield of Whole Genome Sequencing compared to genetic newborn screening
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Aug 2024
- Study start3 Dec 2024
- Primary completionDec 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Newborn ScreeningStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 20,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital Freiburg
- Sponsor type
- University, hospital or other
- Collaborators
- Innovative Medicines Initiative, Università degli Studi di Ferrara, Ospedale Pediatrico Bambin Gesù, University of Siena, Centre Hospitalier Universitaire Dijon, Real Genix, University Hospital Goettingen, Centro Nacional de Análisis Genómico, Genoox, Municipal Hospital Karlsruhe, Schwarzwald-Baar Hospital, Illumina, Inc., Charite University, Berlin, Germany, Brno University Hospital, General Hospital Of Thessaloniki Ippokratio, San Camillo Hospital, Rome, University of Rzeszow, Hospital San Pietro Fatebenefratelli
- Responsible party
- Principal investigator, Jan Kirschner, University Hospital Freiburg
- Investigators
- Alessandra Ferlini, Professor, Principal investigator, Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06549218
- Sponsor's protocol ID
- 101034427
- Acronym
- SCREEN4CARE
- Status last verified
- Jul 2025
- First submitted
- 29 Jul 2024
- Last updated
- 4 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
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'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.
PubMed 42359128
Study at a glance
From the registry record, last updated by the sponsor on 4 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT06549218
- Acronym / sponsor ID
- SCREEN4CARE / 101034427
- Conditions
- Newborn Screening
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 20,000 participants (estimated)
- Lead sponsor
- University Hospital FreiburgUniversity, hospital or other
- Collaborators
- Innovative Medicines Initiative, Università degli Studi di Ferrara, Ospedale Pediatrico Bambin Gesù, University of Siena, Centre Hospitalier Universitaire Dijon, Real Genix, University Hospital Goettingen, Centro Nacional de Análisis Genómico, Genoox, Municipal Hospital Karlsruhe, Schwarzwald-Baar Hospital, Illumina, Inc., Charite University, Berlin, Germany, Brno University Hospital, General Hospital Of Thessaloniki Ippokratio, San Camillo Hospital, Rome, University of Rzeszow, Hospital San Pietro Fatebenefratelli
- Study start
- 3 Dec 2024 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 12 Aug 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| newborn screening | Other | Diagnostic Test: newborn genetic screening and whole genome sequencingAll 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. |
Who may qualify
- Ages
- Up to 2 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
Key inclusion criteria (8 listed)
- TREAT-panel:
- Whole genome sequencing:
Key exclusion criteria (1 listed)
- Missing informed consent of parents/legal guardian
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| newborn genetic screening and whole genome sequencingnewborn genetic screening (panel of treatable diseases); whole genome sequencing (if newborn develops symptoms suggestive of a genetic disease) | Diagnostic test | newborn screening |
Primary outcome
TREAT-panel
Time frame: 1 year
• Percentage of eligible couples who will accept to participate to the genetic newborn screening
TREAT-panel
Time frame: 1 year
• Percentage of infants in whom pathogenic or likely pathogenic variants that predict one of the target diseases will be identified
Whole Genome Sequencing
Time frame: 2 years
• Percentage of symptomatic patients whom parents will accept to be enrolled in whole genome sequencing
Whole Genome Sequencing
Time frame: 2 years
• Percentage of known disease genes where pathogenic variations will be identified by whole genome sequencing in enrolled patients
Whole Genome Sequencing
Time frame: 2 years
• Percentage of infants where genetic diagnosis is achieved by whole genome sequencing
9 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 May 2026.
- Derived from this study: PubMed 42359128Fortunato 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Alessandra Ferlini, Professor principal investigator
Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
8 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing newborn genetic screening and whole genome sequencing in people with Newborn Screening, run by University Hospital Freiburg at 8 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 4 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 8 sites in Italy, Germany, France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Alessandra Ferlini, Professor (+39 0532 974439, screen4care@unife.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
TREAT-panel (time frame: 1 year). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06549218, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 May 2026.