Ural doctors began to use an innovative drug for the treatment of children with a rare disease


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Doctors of the Sverdlovsk Regional Children’s Clinical Hospital (ODKB) have started using an innovative drug for the treatment of children with genetic dysplasia. Little patients will receive an expensive medicine for free.

Achondroplasia is caused by a genetic mutation. Without treatment, the growth of people, as a rule, does not reach 140 centimeters. Until now, the only way to help patients with such a pathology was a long-term correction with the Ilizarov apparatus, which painfully stretched the bones. Now this method has an alternative – a drug that blocks genetic deficiency and allows the child to grow. You can even enter it at home.

“Therapy with an innovative drug is planned for 18 children, 12 children have already started treatment. It is important to start treatment as early as possible, since the method is effective with open growth zones, that is, up to 14-15 years old, ”said Professor Aleksey Kiyaev, chief freelance pediatric endocrinologist of the regional Ministry of Health.

Doctors note that the treatment with the new drug is long-term, it is possible to talk about the first result no earlier than in a year. The drug, which allows young patients with achondroplasia to grow fully, was purchased by the Circle of Kindness charity foundation. All children to whom it is indicated will receive the medicine free of charge.

“A supply of the drug for 90 days, as prescribed by specialists, is issued to the patient’s parents at home. Before a child is discharged from the department, the accompanying parent undergoes the necessary training for the subsequent self-administration of the drug,” said Olga Pollak, an endocrinologist at the Pediatric Endocrinology Department of the CSTO.

The Circle of Kindness Foundation was established to help children with severe and chronic diseases, including rare ones. The decree on its creation was signed by Russian President Vladimir Putin at the beginning of 2021.

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