Ensaio clínico em Perda de audição neurosensorial, Citomegalovírus congênito, Infecções por Citomegalovírus, Infecção Neonatal, Infecção viral - Registro de Ensaios Clínicos

Visão geral do estudo

Status

Recrutamento

Condições

Descrição detalhada

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 estudo

Observacional

Inscrição (Estimado)

630

Contactos e Locais

Esta seção fornece os detalhes de contato para aqueles que conduzem o estudo e informações sobre onde este estudo está sendo realizado.

Contato de estudo

Nome: Kia Hee Schultz Dungu, MD
Número de telefone: +45 22645782
E-mail: kia.hee.schultz.dungu@regionh.dk

Estude backup de contato

Nome: Ulrikka Nygaard, Ass Prof PhD
Número de telefone: +45 35459761
E-mail: Ulrikka.Nygaard@regionh.dk

Locais de estudo

Dinamarca
- - Copenhagen, Dinamarca, 2100
    - Recrutamento
    - Department of Paediatrics and Adolescent Medicine, Rigshospitalet
    - Contato:
      
      Kia Hee Schultz Dungu, MD
      
      Número de telefone: +45 22645782
      
      E-mail: kia.hee.schultz.dungu@regionh.dk
  - Copenhagen, Dinamarca, 2300
    - Recrutamento
    - Department of Congenital Disorders, Statens Serum Institut
    - Contato:
      
      David M Hougaard, D.Sc (med)
      
      Número de telefone: +45 32683544
      
      E-mail: dh@ssi.dk

Critérios de participação

Os pesquisadores procuram pessoas que se encaixem em uma determinada descrição, chamada de critérios de elegibilidade. Alguns exemplos desses critérios são a condição geral de saúde de uma pessoa ou tratamentos anteriores.

Critérios de elegibilidade

Idades elegíveis para estudo

Filho

Aceita Voluntários Saudáveis

Sim

Método de amostragem

Amostra Não Probabilística

População do estudo

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.

Descrição

Inclusion Criteria:

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.

Exclusion Criteria:

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.

Plano de estudo

Esta seção fornece detalhes do plano de estudo, incluindo como o estudo é projetado e o que o estudo está medindo.

Como o estudo é projetado?

Detalhes do projeto

Número de grupos/coortes

3

Coortes e Intervenções

Grupo / Coorte
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.

O que o estudo está medindo?

Medidas de resultados primários

Medida de resultado	Descrição da medida	Prazo
Differential protein expression associated with sequelae following congenital cytomegalovirus infection Prazo: 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 Prazo: 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 resultados secundários

Medida de resultado	Descrição da medida	Prazo
Immune pathway enrichment based on proteomic and RNA expression profiles Prazo: 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

É aqui que você encontrará pessoas e organizações envolvidas com este estudo.

Patrocinador

Rigshospitalet, Denmark

Colaboradores

Statens Serum Institut

Investigadores

Investigador principal: Kia Hee Schultz Dungu, MD, Rigshospitalet, Denmark
Cadeira de estudo: Ulrikka Nygaard, Ass Prof PhD, Rigshospitalet, Denmark

Datas de registro do estudo

Essas datas acompanham o progresso do registro do estudo e os envios de resumo dos resultados para ClinicalTrials.gov. Os registros do estudo e os resultados relatados são revisados pela National Library of Medicine (NLM) para garantir que atendam aos padrões específicos de controle de qualidade antes de serem publicados no site público.

Datas Principais do Estudo

Início do estudo (Real)

21 de abril de 2026

Conclusão Primária (Estimado)

30 de setembro de 2026

Conclusão do estudo (Estimado)

31 de dezembro de 2026

Datas de inscrição no estudo

Enviado pela primeira vez

18 de abril de 2023

Enviado pela primeira vez que atendeu aos critérios de CQ

4 de junho de 2026

Primeira postagem (Real)

9 de junho de 2026

Atualizações de registro de estudo

Última Atualização Postada (Real)