臨床および実験薬理学ジャーナル

概要

VIMIZIN (Elosulfatasealpfa) in an Adult Patient with Mucopolysaccharidosis Type IV Ð

Mariela Geneva-Popova

Lysosomal diseases include a group of over 40 inherited metabolic diseases due to enzyme deficiency. In them, the accumulation of undegraded substrate in the cells is observed. They are chronic diseases with a heterogeneous clinical picture. Mucopolysaccharidosis type IVA (Morquio syndrome) is a rare form of these diseases and occurs in a frequency of 1: 200,000 patients. Treating this condition is difficult, expensiveр, and often ineffective. We report a patient, a 22-year-old man suffering from Morquio syndrome, who was admitted to the hospital in a serious condition with an inability to move due to musculoskeletal problems (the patient walks 0 meters in a 6-minute walking test) and inability to climb stairs. In 2018, treatment with Vimizin (elosulfatasealfa) was started at a dosage of 2 mg/kg body weight every week. The patient's condition was monitored weekly, and the level of glycosaminoglycans in the urine was examined every 30 days (normal 0.9-6.7 mg/ mmol). Serious side effects include an allergic reaction during the 8. infusion, which has been affected by the administration of antihistamines and muscle pain. At 12 weeks the patient walks 18 meters alone, at 24 months - 51 meters. In the 1st year, the patient walks independently 650 meters and climbs 10 stairs, in the second year 900 meters and climbs 15 stairs. Gradually, the level of glycosaminoglycans in the urine returns to normal. Conclusion: VIMIZIN (Elosulfatasealfa) is a suitable and effective enzyme replacement in patients with Mucopolysaccharidosis type IVA, regardless of the initial condition of the patient.