Quebec announces neonatal screening for cystic fibrosis

The D^R Larry Lands, director of the Department of Respiratory Medicine at the Montreal Children's Hospital, is one of the many people who were delighted to learn that Quebec was implementing neonatal screening for cystic fibrosis (CF) on September 17. “Quebec is the last authority in North America to introduce neonatal screening for cystic fibrosis,” explains Dr.^R Lands. This is an important step, and the result of the work of so many people over the last decade.”

In 2016, the Journal of Cystic Fibrosis published a study led by the D.^Re Denise Mak, Cystic Fibrosis Canada, and co-authored by Dr.^R Lands, which looked at data from the Canadian Cystic Fibrosis Registry for children in Alberta, Ontario, and Quebec. The study analyzed factors such as growth, the number of hospitalizations, and the rate of infections caused by two bacteria that are often associated with cystic fibrosis. Children who were diagnosed with cystic fibrosis at birth after undergoing a neonatal screening test had better results on all of these measures than children who were diagnosed later, due to the lack of neonatal screening. “Despite access to the best treatments, patients in Quebec did not do as well in terms of growth and development measures, reports the D.^R Lands. We concluded that newborn screening would improve the health of patients in the long term.”

Identification of a key enzyme

In Quebec, a small drop of blood is taken from all newborns and analyzed to check for the presence of certain diseases; screening for cystic fibrosis will now be part of this analysis. The CF test measures a baby's level of immunoreactive trypsinogen (TIR), an enzyme produced by the pancreas. “If the TIR level is high, a genetic test is recommended for the baby,” explains the D^R Lands. The genetic test then makes it possible to determine whether the child is a carrier of the gene that regulates transmembrane permeability in cystic fibrosis (CFTR gene).

Making new treatments available to more patients

For the D^R Lands, we are living in a promising time for the treatment of cystic fibrosis, because there are new treatments that can correct the main defect in the CFTR gene. The pharmaceutical companies that make the first generation of concealers have already started studying children under the age of two. “Our team members were among the first to adopt these new concealers, and we decided to tell families what is out there and to involve them in research trials,” explains Dr.^R Lands.

The McGill University Health Center (MUHC) is part of a national clinical trials network created by Cystic Fibrosis Canada, and it is the D^R Lands, who runs the MUHC site for the network. “This initiative will allow more patients to be involved in new treatments, and we will have the chance to involve patients from eastern Quebec,” he says. Right now, a variety of pediatric studies are ongoing, and we will soon be starting a phase I trial in adults with cystic fibrosis.”

Source: https://www.hopitalpourenfants.com/nouvelles-et-evenements/dernieres-nouvelles/quebec-annonce-le-depistage-neonatal-de-la-fibrose

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