Successful Restoration the Work of the Ion Channel in the Patient With Pancreatitis and Cystic Fibrosis for the First Time in Russia

Scientific staff of the scientific clinical department for cystic fibrosis at the Research Centre for Medical Genetics together with the group of experts of the Scientific Research Clinical Institute of Moskovskaya Oblast have managed to restore the work of the ion channel in a cystic fibrosis patient with pancreatitis for the first time in Russia.

Pathogenic changes in the CFTR gene can lead to a variety of disease progressions, from CFTR-associated pancreatitis, where the lungs are preserved and function, to severe cystic fibrosis when a patient has both lungs and pancreas affected.

In the scientific clinical department for cystic fibrosis at RCMG there is a child with genotype L138ins/ W1282R with preserved pancreatic function. The child suffered from frequent pancreatitis recurrences, acute attacks of which can lead to life-threatening necrosis of the pancreas. The therapy was ineffective and did not produce long-term results.

Specialists of the scientific clinical department for cystic fibrosis at RCMG together with the stem cell laboratory at RCMG within the state assignment of the Ministry of Science and Higher Education of the Russian Federation select effective targeted therapy with the help of a new method which was introduced in RCMG - a test on intestinal organoids.

Targeted therapy was a breakthrough in the treatment of cystic fibrosis, characterized by a great variety of genetic variants. The damage mechanism of the CFTR channel is different in patients with different genotypes, which must be taken into account when selecting a suitable drug. The method of determining the potential difference of intestinal organoids helps.

The Federal Council decided to provide the child with the preparation of lumakftor/ivakaftor off label through the Charity Fund “The Circle of Well” .

At present, the patient has been receiving treatment for more than one year. Pancreatitis relapsed during the entire observation, the child is growing and gaining weight. This was the first time that a successful selection of therapy was made by testing on intestinal organoids and pancreatitis against cystic fibrosis.

“Today there is no targeted therapy for CFTR-associated pancreatitis. Patient observation over the year showed that CFTR modulators are effective in such conditions.  This is the first case in Russia of the use of targeted drugs for hereditary pancreatitis, the cause of which is a defect in the CFTR gene. The entire medical community is discussing the possibility of treating CFTR-associated pancreatitis with targeted cystic fibrosis drugs. Doctors hope that this approach will prevent the recurrence of pancreatitis both in patients with cystic fibrosis and with pancreatitis caused by changes in the CFTR gene, but without cystic fibrosis disease”, - said professor Elena Kondratyeva, head of the scientific clinical department at RCMG, head of the department of respiratory system diseases genetics of the Institute of Higher and Supplementary Professional Education at RCMG.