Metabolic Disease Early inhalation therapy helps babies with cystic fibrosis

Congenital Metabolic Disease: Early inhalation therapy helps with cystic fibrosis

Around 8,000 people in Germany suffer from cystic fibrosis. Cure the congenital metabolic disease is not yet. But especially children with cystic fibrosis can often be treated well. As has now been shown in a study, babies can benefit from a prevention therapy from the first months of life.

Incurable multi-organ disease

Cystic fibrosis (CF) is a congenital metabolic disease. In Germany alone, around 8,000 people suffer from the incurable disease, especially children and young adults. Characteristic of the multi-organ disease is a limited functioning of the mucus-forming glands in the body, which forms a very tough mucus. This clogs the respiratory tract, favors a chronic infection and inflammation. Both destroy the lungs over time. Life expectancy is steadily increasing thanks to advanced therapies and ever earlier diagnosis. For patients, prevention therapy is also available from the first months of life. Babies can benefit enormously from this treatment, as shown in a study.

A new study has shown that babies with the congenital multi-organ disease cystic fibrosis benefit from very early-onset hypertonic saline inhalation therapy. (Image: Zerbor / fotolia.com)

Disease can affect various organs

The disease course of cystic fibrosis is very different and can affect various organs. The severity of the disease can vary enormously.

"Many sufferers mainly suffer from respiratory symptoms. Typical features are therefore constant cough to get rid of the tough mucus, shortness of breath, because the lung is impaired in their function, as well as recurrent infections and pneumonia, "explains the Association Cystic Fibrosis e. V. Federal Association of Cystic Fibrosis (CF) on its website.

But also the digestive system is impaired. "The viscous mucus clogs the pancreas and the liver. As a result, the digestive enzymes do not enter the intestine, "say the experts.

Therefore, the food can not be digested well and the result is abdominal pain, constipation, fat, severe underweight and in infants and toddlers also thriving.

Delay lung damage and complications

As the Heidelberg University Hospital has written in a communication, children with cystic fibrosis are impaired in their development due to the onset of lung damage and severely impaired digestion, and may lag behind their peers if therapy is inadequate in terms of growth and weight.

Therefore, the sooner the treatment starts and the sooner the reaction to slight deterioration is adequately responded, the longer the delay in lung damage and complications can be delayed.

The prerequisite for this is that of Heidelberg scientists around Professor Marcus Mall, which was launched in Germany in 2015, is a newborn screening program for cystic fibrosis that reliably identifies affected children.

For the first time, this early detection has opened a narrow window of time for preventive therapy approaches.

A recent study has now shown the effectiveness of prevention therapy from the first months of life.

The results were published in the American Journal of Respiratory and Critical Care Medicine.

Babies benefit from inhaled hypertonic saline solution

The multicentre study at the German Center for Lung Research (DZL) under the auspices of the Heidelberg Center for Pediatric and Adolescent Medicine showed that babies with cystic fibrosis benefit from a very early inhalation therapy with hypertonic saline solution.

Their lung function improves and they gain more weight over the course of a year than patients who inhale an isotonic saline solution.

It is reported to be the world's first completed controlled trial of preventive therapy at this age, as recently non-invasive methods of reliably detecting early lung damage have become available.

In view of the results, preventive inhalation therapy with hypertonic saline can now be recommended for infants and toddlers with cystic fibrosis. The participating study centers have already changed their treatment accordingly.

Therapy begins before the first symptoms

"The study shows for the first time the benefits of preventive therapy, which begins even before the first symptoms in infancy," says Professor. Marcus Mall, who led the study at Heidelberg University Hospital.

"In addition, we were able to show in the study that the examination methods used - the measurement of lung ventilation and magnetic resonance tomography - are very well suited to examine therapy effects with little stress for the children," says the scientist.

"The work paves the way for the development of further preventive therapies with the goal of preventing or at least significantly stopping the development of severe lung damage in patients with CF."

Moisten mucus in the respiratory tract better

For the study, a total of 42 babies in the first three months of life were randomly assigned to a treatment and a control group, and their lung ventilation and growth and weight development followed for one year.

The children of the treatment group inhaled a hypertonic saline solution twice daily, with a salt content above that of the pulmonary secretion, which helps to better moisturise the lung surface and mucus in the airways.

The babies of the control group inhaled an isotonic saline equivalent in concentration to the lung secretion.

Lung clearance index (LCI) measures children's lung function. It determines the number of breaths that are needed until all the air in the lungs has been changed.

"This measurement shows very sensitively whether breathing air in the lungs accumulates, because for example mucus plugs or inflammations obstruct the air circulation", explains first author Dr. med. Mirjam Stahl, Child Lung Specialist at the Cystic Fibrosis Center and Center for Translational Lung Research (TLRC) at Heidelberg University Hospital.

Tough mucus in the small airways not only complicates the breathing, but in the further course leads to inflammation and changes in the lung tissue.

In addition, MRI examinations of the lungs were performed in all children in order to detect such changes and sources of inflammation.

Simple and well-tolerated measure

After one year, lung ventilation in the treatment group's babies developed significantly better than in the control group; they were on average 500 grams heavier and 1.5 centimeters larger.

The cause of the good weight development see the doctors in the overall better health of the children. There were only slight differences between the two groups at this early stage in the MRI finding.

"This inhalation therapy is recommended as a simple and well-tolerated measure to mitigate or delay early lung changes in cystic fibrosis. It provides the affected children with significantly improved starting conditions for life, "Dr. stole.

All children will continue to be cared for as part of the follow-up study also coordinated by Heidelberg. The doctors want to clarify how preventive therapy affects the further course of the disease. (Ad)