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Protein Biomarkers and Host RNA Expression Profiles in Congenital Cytomegalovirus Infection

4 juin 2026 mis à jour par: Kia Hee Schultz Dungu, Rigshospitalet, Denmark
This study seeks to identify and test host protein biomarkers and RNA expression profiles in dried blood spot samples as novel diagnostic markers of congenital cytomegalovirus sequelae and to improve the understanding of the pathogenesis of the disease.

Aperçu de l'étude

Statut

Recrutement

Les conditions

Description détaillée

Background:

Human cytomegalovirus (CMV) is one of the most common causes of congenital viral infection, leading to a significant number of children with permanent disabilities. It is recognized as the major infectious cause of sensorineural hearing loss (SNHL) and neurodevelopmental abnormalities in infants. Its pathogenesis is largely unknown due to the complex interplay between viral, maternal, placental, and child factors. In Western Europe the incidence is estimated to 0.5-0.7% of all live births. In Denmark there are 240-480 children born every year with CMV infection, but the incidence has not been studied since 1979. Among the congenitally infected infants, approximately 10% are estimated to have symptoms at birth, ranging from mild, such as petechiae, to severe, such as microcephaly. Approximately half of these symptomatic children develop permanent long-term disabilities, such as hearing loss, cognitive and motor developmental delay. Asymptomatic children are also at risk for CMV-related disabilities, and 10-15% will develop SNHL. SNHL after congenital CMV infection may be present at birth or occur later in childhood and therefore, a significant part of these will not be detected in time for diagnosis and appropriate treatment, e.g., ganciclovir within the first 30 days of life. At present, there is no reliable virological marker to determine which infants will develop sequelae.

Method:

A nationwide retrospective case-control study of all neonates with congenital CMV infection in Denmark from 2010 through 2025. DBS samples will be obtained from the Danish Neonatal Screening Biobank, Statens Serum Institut. Proteomic analyses and RNA sequencing will be performed at the Department for Congenital Disorders, Statens Serum Institut. Cases will be randomly assigned to a "Discovery cohort" and compared to a control group of neonates matched on gestational age, sex, birthweight and age at DBS sample collection.

Perspectives:

New molecular-based diagnostic tools may contribute to improve early diagnosis and treatment of infants with congenital CMV infection and potentially prevent development of sequelae. Additionally, understanding of the pathogenesis at a molecular level of severe disease manifestations of the disease, could form the basis for development of novel interventions for better prevention and treatment.

Type d'étude

Observationnel

Inscription (Estimé)

630

Contacts et emplacements

Cette section fournit les coordonnées de ceux qui mènent l'étude et des informations sur le lieu où cette étude est menée.

Coordonnées de l'étude

Sauvegarde des contacts de l'étude

Lieux d'étude

  • Danemark
      • Copenhagen, Danemark, 2100
        • Recrutement
        • Department of Paediatrics and Adolescent Medicine, Rigshospitalet
        • Contact:
      • Copenhagen, Danemark, 2300
        • Recrutement
        • Department of Congenital Disorders, Statens Serum Institut
        • Contact:
          • David M Hougaard, D.Sc (med)
          • Numéro de téléphone: +45 32683544
          • E-mail: dh@ssi.dk

Critères de participation

Les chercheurs recherchent des personnes qui correspondent à une certaine description, appelée critères d'éligibilité. Certains exemples de ces critères sont l'état de santé général d'une personne ou des traitements antérieurs.

Critère d'éligibilité

Âges éligibles pour étudier

  • Enfant

Accepte les volontaires sains

Oui

Méthode d'échantillonnage

Échantillon non probabiliste

Population étudiée

The study population consists of children born in Denmark between January 1, 2010 and December 31, 2025 with available neonatal dried blood spot samples collected through the Danish National Newborn Screening Program. The study includes children with verified congenital cytomegalovirus (CMV) infection and matched controls without congenital CMV infection. Children with congenital CMV infection will be categorized according to the presence or absence of CMV-associated sequelae based on clinical follow-up data.

La description

Inclusion Criteria:

  1. Children born between 1 January 2010 and 31 December 2025 with an available neonatal dried blood spot sample collected through the Danish National Newborn Screening Program.
  2. Cases: children with verified congenital CMV infection, defined as a positive CMV PCR result on neonatal dried blood spot, blood, or urine collected within the neonatal period.
  3. Controls: children without evidence of congenital CMV infection selected from the same newborn screening population and matched to cases on sex, gestational age, birthweight, and age at DBS sampling.

Exclusion Criteria:

  1. DBS samples not approved for research use.
  2. DBS samples with insufficient blood material for RNA expression profiling and/or proteomic analyses.
  3. Samples with inadequate analytical quality for molecular or proteomic analyses.

Plan d'étude

Cette section fournit des détails sur le plan d'étude, y compris la façon dont l'étude est conçue et ce que l'étude mesure.

Comment l'étude est-elle conçue ?

Détails de conception

Cohortes et interventions

Groupe / Cohorte
Cases

300 children with symptomatic congenital CMV infection.

Study procedures:

Diagnostic/prognostic test and disease pathogenesis: Host RNA expression profiling by RNA sequencing and proteomic analyses. Cases will be randomly assigned to a "Discovery Cohort" for identification of diagnostic/prognostic RNA and proteomic profiles).

Disease pathogenesis: Host RNA expression profiling by RNA sequencing and proteomic analyses will be performed to explore disease pathogenesis.
Control group 1

300 children without congenital CMV infection.

Study procedures:

Diagnostic/prognostic test and disease pathogenesis: Host RNA expression profiling by RNA sequencing and proteomic analyses. Cases will be randomly assigned to a "Discovery Cohort" for identification of diagnostic/prognostic RNA and proteomic profiles).

Disease pathogenesis: Host RNA expression profiling by RNA sequencing and proteomic analyses will be performed to explore disease pathogenesis.
Control group 2

30 neonates with asymptomatic congenital CMV infection and no sequelae

Study procedures:

Diagnostic/prognostic test and disease pathogenesis: Host RNA expression profiling by RNA sequencing and proteomic analyses. Cases will be randomly assigned to a "Discovery Cohort" for identification of diagnostic/prognostic RNA and proteomic profiles).

Disease pathogenesis: Host RNA expression profiling by RNA sequencing and proteomic analyses will be performed to explore disease pathogenesis.

Que mesure l'étude ?

Principaux critères de jugement

Mesure des résultats
Description de la mesure
Délai
Differential protein expression associated with sequelae following congenital cytomegalovirus infection
Délai: At neonatal dried blood spot sampling (typically 2-3 days after birth).
Normalized protein expression levels measured by Olink proteomics in neonatal dried blood spot samples obtained at birth from children with congenital cytomegalovirus infection who subsequently developed sequelae compared with children who did not develop sequelae and healthy controls.
At neonatal dried blood spot sampling (typically 2-3 days after birth).
Differential host RNA expression associated with sequelae following congenital cytomegalovirus infection
Délai: At neonatal dried blood spot sampling (typically 2-3 days after birth).
Host RNA expression profiles measured in neonatal dried blood spot samples obtained at birth from children with congenital cytomegalovirus infection who subsequently developed sequelae compared with children who did not develop sequelae and healthy controls.
At neonatal dried blood spot sampling (typically 2-3 days after birth).

Mesures de résultats secondaires

Mesure des résultats
Description de la mesure
Délai
Immune pathway enrichment based on proteomic and RNA expression profiles
Délai: At neonatal dried blood spot collection (typically 2-3 days after birth).
Immune and inflammatory pathways will be assessed by host RNA expression and normalized protein expression levels measured in neonatal dried blood spot samples. Pathway enrichment analyses will be used to identify biological pathways associated with congenital cytomegalovirus infection and subsequent sequelae. Exploratory comparisons will be made with previously published host RNA expression signatures related to infectious disease and immune responses.
At neonatal dried blood spot collection (typically 2-3 days after birth).

Collaborateurs et enquêteurs

C'est ici que vous trouverez les personnes et les organisations impliquées dans cette étude.

Parrainer

Rigshospitalet, Denmark

Collaborateurs

Statens Serum Institut

Les enquêteurs

  • Chercheur principal: Kia Hee Schultz Dungu, MD, Rigshospitalet, Denmark
  • Chaise d'étude: Ulrikka Nygaard, Ass Prof PhD, Rigshospitalet, Denmark

Dates d'enregistrement des études

Ces dates suivent la progression des dossiers d'étude et des soumissions de résultats sommaires à ClinicalTrials.gov. Les dossiers d'étude et les résultats rapportés sont examinés par la Bibliothèque nationale de médecine (NLM) pour s'assurer qu'ils répondent à des normes de contrôle de qualité spécifiques avant d'être publiés sur le site Web public.

Dates principales de l'étude

Début de l'étude (Réel)

21 avril 2026

Achèvement primaire (Estimé)

30 septembre 2026

Achèvement de l'étude (Estimé)

31 décembre 2026

Dates d'inscription aux études

Première soumission

18 avril 2023

Première soumission répondant aux critères de contrôle qualité

4 juin 2026

Première publication (Réel)

9 juin 2026

Mises à jour des dossiers d'étude

Dernière mise à jour publiée (Réel)

9 juin 2026

Dernière mise à jour soumise répondant aux critères de contrôle qualité

4 juin 2026

Dernière vérification

1 juin 2026

Plus d'information

Termes liés à cette étude

Termes MeSH pertinents supplémentaires

Autres numéros d'identification d'étude

  • H-21009288-CMV

Plan pour les données individuelles des participants (IPD)

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INDÉCIS

Informations sur les médicaments et les dispositifs, documents d'étude

Étudie un produit pharmaceutique réglementé par la FDA américaine

Non

Étudie un produit d'appareil réglementé par la FDA américaine

Non

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