Protein Biomarkers and Host RNA Expression Profiles in Congenital Cytomegalovirus Infection

NCT07635368 | Recruiting

• 1 other identifier: H-21009288-CMV
• Study Type: observational
• Target: 630
• Locations: 1 country
• Sites: 2

Brief Summary

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.

Conditions

Cytomegalovirus Infections; Neonatal Infection; Sensorineural Hearing Loss; Congenital Cytomegalovirus; Viral Infection

Outcome Measures

Primary Outcomes (2)

• Differential protein expression associated with sequelae following congenital cytomegalovirus infection

  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

  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).

Secondary Outcomes (1)

• Immune pathway enrichment based on proteomic and RNA expression profiles

  At neonatal dried blood spot collection (typically 2-3 days after birth).

Study Arms (3)

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.

Eligibility Criteria

• Age: 0 Days - 28 Days
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• 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.
• 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.
• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Rigshospitalet, Denmark: lead
• Statens Serum Institut: collaborator

Study Sites (2)

Department of Paediatrics and Adolescent Medicine, Rigshospitalet

Copenhagen, 2100, Denmark

RECRUITING

Department of Congenital Disorders, Statens Serum Institut

Copenhagen, 2300, Denmark

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

Dried blood spot samples will be obtained from the Danish Neonatal Screening Biobank, Statens Serum Institut. Proteomic analyses and RNA sequencing (in total 12 ul whole blood) will be performed at the Department for Congenital Disorders, Statens Serum Institut.

MeSH Terms

Conditions

Cytomegalovirus Infections; Hearing Loss, Sensorineural; Virus Diseases

Condition Hierarchy (Ancestors)

Herpesviridae Infections; DNA Virus Infections; Infections; Hearing Loss; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Kia Hee Schultz Dungu, MD

  Rigshospitalet, Denmark

  PRINCIPAL INVESTIGATOR

• Ulrikka Nygaard, Ass Prof PhD

  Rigshospitalet, Denmark

  STUDY CHAIR

Central Study Contacts

Kia Hee Schultz Dungu, MD

CONTACT

+45 22645782; kia.hee.schultz.dungu@regionh.dk

Ulrikka Nygaard, Ass Prof PhD

CONTACT

+45 35459761; Ulrikka.Nygaard@regionh.dk

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: April 18, 2023
• First Posted: June 9, 2026
• Study Start: April 21, 2026
• Primary Completion (Estimated): September 30, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: June 9, 2026

Record last verified: 2026-06

Locations

DK (2)