Support research
on childhood diseases

Search for urinary biomarkers of congenital cytomegalovirus in newborns

Research project directed by Professor Christiane Auray-Blais, Genetics Services of the Department of Pediatrics, Université de Sherbrooke-CIUSSS de l'Estrie-CHUS.

In collaboration with interdisciplinary and multicentre physician-researchers:

- Université de Montréal-CHU Sainte-Justine: Dr. Fatima Kakkar, Clinical Assistant Professor, Department of Infectious Diseases, Department of Pediatrics and Dr. Christian Renaud, Clinical Assistant Professor, Department of Microbiology, Infectiology and Immunology.

  • Université de Sherbrooke-CIUSSS de l'Estrie-CHUS: Professor Christiane Auray-Blais, LL.M., PhD, Genetics Services in the Department of Pediatrics and Professor Michel Boutin, PhD. Associate Professor, Genetics Services of the Department of Pediatrics.

Biomarkers and cytomegalovirus (CMV): What is it?

Biomarkers are indicators of change that measure transformations in a person's metabolism. They are used to monitor and predict the health status of an individual or population so that an appropriate therapeutic intervention can be planned.

Cytomegalovirus is the most common cause of congenital infection worldwide. This infection has an estimated annual incidence of between 500,000 and 1,300,000 new cases each year, surpassing other better known congenital infections such as the Zika virus or the human immunodeficiency virus (HIV). The incidence of CMV among newborns in Quebec is estimated at 800 cases per 80,000 births.

A proportion of 10% of affected babies are symptomatic and the majority of these babies can be diagnosed based on their symptoms. However, 90% of them are completely asymptomatic. In the latter group, it is estimated that 10-15% will be affected by a sensorineural hearing loss that may be present at birth, or may develop gradually during infancy. In the United States, congenital CMV is responsible for 6-30% of childhood hearing loss [1-2].

What are the objectives of the project?

The main objectives of the proposed study are as follows:

  1. To discover new biomarkers of CMV ;
  2. To develop and validate a method for the quantitative analysis of these biomarkers by tandem mass spectrometry allowing the possible analysis of a large number of samples;
  3. Evaluate the performance of the CMV PCR on urine filter papers.

Once these preliminary results are obtained, it will be necessary to proceed with the application for funding from government agencies and foundations to continue this evaluative research project for the detection of CMV in all newborns in Quebec. Also, biomarkers detected in urine could be tested in dried blood on filter paper in order to eventually be able to offer this screening also in the dried blood of newborns.

What will be the impact of these advances?

In recent years, various metabolomic studies in urine [8-10] and plasma [11-12] conducted in the laboratory of Professor Auray-Blais have led to the discovery of more than 70 new biomarkers for Fabry disease. These new biomarkers are now being used for high-risk screening, follow-up and monitoring of affected patients undergoing treatment. Continued research in rare diseases has been successful in finding new biomarkers that have shown an association with certain clinical manifestations of Fabry disease.

What is the originality of the project?

The originality of this project lies in the discovery of biomarkers that would be applicable to infrastructures already in place for the universal neonatal screening of this disease (analysis of urine and dried blood on filter paper by tandem mass spectrometry). Researchers may also believe that some of the biomarkers found could be predictive of a late onset form of congenital CMV.

What are the transformations targeted for children's health?

Babies with symptoms associated with CMV may benefit from therapy with antiviral drugs to reduce the severity of hearing loss. To optimize their communication and language skills, devices such as hearing aids and cochlear implants may be used, and they may also benefit from services such as speech therapy or occupational therapy. Children with hearing loss may also learn other ways to communicate, such as the use of sign language. Early management and intervention can minimize speech and language delays.

What is the potential leverage?

The results obtained from this study will be used as leverage to obtain government funding (CIHR, FRQS) as well as financial support from various foundations to evaluate these biomarkers and the associated analytical method in the context of the Quebec Neonatal Urinary Screening Program. Informed consent would then be obtained from the parents.