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Protein Biomarkers and Host RNA Expression Profiles in Congenital Cytomegalovirus Infection

4 de junio de 2026 actualizado por: 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.

Descripción general del estudio

Estado

Reclutamiento

Condiciones

Descripción detallada

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.

Tipo de estudio

De observación

Inscripción (Estimado)

630

Contactos y Ubicaciones

Esta sección proporciona los datos de contacto de quienes realizan el estudio e información sobre dónde se lleva a cabo este estudio.

Estudio Contacto

Copia de seguridad de contactos de estudio

Ubicaciones de estudio

  • Dinamarca
      • Copenhagen, Dinamarca, 2100
        • Reclutamiento
        • Department of Paediatrics and Adolescent Medicine, Rigshospitalet
        • Contacto:
      • Copenhagen, Dinamarca, 2300
        • Reclutamiento
        • Department of Congenital Disorders, Statens Serum Institut
        • Contacto:
          • David M Hougaard, D.Sc (med)
          • Número de teléfono: +45 32683544
          • Correo electrónico: dh@ssi.dk

Criterios de participación

Los investigadores buscan personas que se ajusten a una determinada descripción, denominada criterio de elegibilidad. Algunos ejemplos de estos criterios son el estado de salud general de una persona o tratamientos previos.

Criterio de elegibilidad

Edades elegibles para estudiar

  • Niño

Acepta Voluntarios Saludables

Sí

Método de muestreo

Muestra no probabilística

Población de estudio

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.

Descripción

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 de estudios

Esta sección proporciona detalles del plan de estudio, incluido cómo está diseñado el estudio y qué mide el estudio.

¿Cómo está diseñado el estudio?

Detalles de diseño

Cohortes e Intervenciones

Grupo / 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.

¿Qué mide el estudio?

Medidas de resultado primarias

Medida de resultado
Medida Descripción
Periodo de tiempo
Differential protein expression associated with sequelae following congenital cytomegalovirus infection
Periodo de tiempo: 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
Periodo de tiempo: 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).

Medidas de resultado secundarias

Medida de resultado
Medida Descripción
Periodo de tiempo
Immune pathway enrichment based on proteomic and RNA expression profiles
Periodo de tiempo: 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).

Colaboradores e Investigadores

Aquí es donde encontrará personas y organizaciones involucradas en este estudio.

Patrocinador

Rigshospitalet, Denmark

Colaboradores

Statens Serum Institut

Investigadores

  • Investigador principal: Kia Hee Schultz Dungu, MD, Rigshospitalet, Denmark
  • Silla de estudio: Ulrikka Nygaard, Ass Prof PhD, Rigshospitalet, Denmark

Fechas de registro del estudio

Estas fechas rastrean el progreso del registro del estudio y los envíos de resultados resumidos a ClinicalTrials.gov. Los registros del estudio y los resultados informados son revisados ​​por la Biblioteca Nacional de Medicina (NLM) para asegurarse de que cumplan con los estándares de control de calidad específicos antes de publicarlos en el sitio web público.

Fechas importantes del estudio

Inicio del estudio (Actual)

21 de abril de 2026

Finalización primaria (Estimado)

30 de septiembre de 2026

Finalización del estudio (Estimado)

31 de diciembre de 2026

Fechas de registro del estudio

Enviado por primera vez

18 de abril de 2023

Primero enviado que cumplió con los criterios de control de calidad

4 de junio de 2026

Publicado por primera vez (Actual)

9 de junio de 2026

Actualizaciones de registros de estudio

Última actualización publicada (Actual)

9 de junio de 2026

Última actualización enviada que cumplió con los criterios de control de calidad

4 de junio de 2026

Última verificación

1 de junio de 2026

Más información

Términos relacionados con este estudio

Términos MeSH relevantes adicionales

Otros números de identificación del estudio

  • H-21009288-CMV

Plan de datos de participantes individuales (IPD)

¿Planea compartir datos de participantes individuales (IPD)?

INDECISO

Información sobre medicamentos y dispositivos, documentos del estudio

Estudia un producto farmacéutico regulado por la FDA de EE. UU.

No

Estudia un producto de dispositivo regulado por la FDA de EE. UU.

No

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