World-Class Research Centre
for Personalized Medicine
2 Akkuratova street, St. Petersburg 197341
As part of the activities of the Competence Centre for Hereditary, Rare and Understudied Diseases established at the World-Class Research Centre for Personalized Medicine, the multidisciplinary team of its specialists, doctors from the Research Laboratory for Physiology and Diseases of Newborns, intensivists, pediatricians and neurologists of Almazov Centre held a case conference with Dr. Martin Samuels, a leading specialist in respiratory control disorders, paediatric sleep disordered breathing and long term ventilation (Staffordshire Children's Hospital, Stoke-on-Trent, Staffs, Great Ormond Street Hospital, London).
The participants discussed two patients, 2 and 3 months old, with congenital central hypoventilation syndrome, a rare genetic condition, also known as Ondine's curse. The main task of the Competence Centre is to implement the principles of personalized medicine, when several leading specialists select an individual treatment program. In this case, a strategy was developed for a non-invasive method of assisted ventilation of the lungs in one patient and an invasive method in the second, to ensure maximum safety during home ventilation, the normal pace of psychomotor and cognitive development of patients and the quality of life not only for children, but for their families.
Almazov Centre is one of two Russian institutions that treat patients with hypoventilation syndromes and the only one to have organized all stages of the management of such patients, including diagnosis, selection of home ventilation modes, preparation of the family for discharge, psychological support, regular comprehensive examinations in accordance with world standards, transfer from invasive to non-invasive ventilation with decannulation, staged treatment of Hirschsprung's disease complicating congenital central hypoventilation syndrome in 20 % of cases.
Today, there are 38 known cases of central hypoventilation syndrome in children in the Russian Federation, 22 of them are being monitored at Almazov Centre.
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