Search Results - "enzyme replacement therapy"
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Hypophosphatasia in childhood: Diagnosis to management
Published 2025-06-01Subjects: Get full textHypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP). HPP is diagnosed based on a combination of clinical features, laboratory findings, radiographic...
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A case of Pompe disease in infant
Published 2015-02-01Subjects: Get full textA case of Pompe disease in infant in Orenburg is presented in this article. Clinical picture of the infantile form of the disease is described. Enzyme replacement therapy (ERT) with alglucosidase alfa is presented (alglucosidase alfa is not registered in Russia, was administered due tolife-threateni...
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EVALUATION OF ENZYME REPLACEMENT THERAPY EFFECTIVENESS IN CHILDREN WITH GAUCHER’S DISEASE ACCORDING TO THE INTERNATIONAL STUDIES
Published 2014-05-01Subjects: Get full textThe article presents data on the history of creation of pathogenetic enzyme replacement therapy and its introduction into clinical practice of managing patients with Gaucher’s disease. 2 primary stages are distinguished: beginning of use of enzyme β-D-glycosidase analog obtained from placenta and al...
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Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case
Published 2023-01-01Subjects: Get full textBackground. Mucopolysaccharidosis type II (MPS II) is a rare hereditary disease from the group of lysosomal storage diseases, with progressive course. There is effective enzyme replacement therapy (ERT) for this disease, it prevents the development of severe complications and improves patients’ qual...
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EFFECTIVENESS AND SAFETY OF VELAGLUCERASE ALFA IN TREATMENT OF GAUCHER DISEASE TYPE 1 (ACCORDING TO INTERNATIONAL STUDIES)
Published 2014-11-01Subjects: Get full textThe article is dedicated to modern approaches to treatment of Gaucher’s disease. The authors list the primary aspects of the disease and present data on the origin and introduction of pathogenetic enzyme replacement therapy to clinical practice. Review of international clinical studies demonstrates...
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MODERN APPROACHES TO THERAPY FOR CHILDREN WITH MUCOPOLYSACCHARIDOSIS
Published 2014-05-01Subjects: Get full textMucopolysaccharidosis is the group of hereditary metabolic disorders; it is characterized by accumulation of glycosaminoglycans owing to storage of specific lysosomal enzymes. Background: Research objective was to study the influence of enzyme replacement therapy on a somatic state and psychomotor d...
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A Randomized, Double‐Blind, 2‐Treatment, 2‐Period, Crossover Phase 1 Study to Compare the Pharmacokinetics, Safety and Tolerability of 60 IU/Kg of Abcertin and Cerezyme in Healthy...
Published 2025-06-01Subjects: Get full textABSTRACT Background Imiglucerase (Cerezyme; Sanofi, Paris, France), an analogue of β‐glucocerebrosidase produced by recombinant DNA technology, has been a safe and effective treatment for Gaucher disease (GD) for over 25 years. A new imiglucerase, Abcertin (Seongnam‐si, Gyeonggi‐do, Republic of Kore...
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ALGLUCOSIDASE ALFA — A NEW STAGE IN THE THERAPY OF INFANTILE POMPE DISEASE
Published 2014-09-01Subjects: Get full textPompe disease is a rare severe hereditary disease caused by excessive glycogen storage in organs and target tissues due to the acid α-glucosidase gene mutation. Infantile and adult Pompe disease is characterized by involvement of cardiovascular, respiratory and muscular systems in the pathological p...
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Modern Approaches in Management of Children with Cystic fibrosis
Published 2022-05-01Subjects: Get full textThe problem of timely diagnosis and proper management of patients with cystic fibrosis is crucial not only in our country, but throughout the world. Experts of the Union of Pediatricians of Russia have considered various issues of etiology, pathogenesis, epidemiology, diagnosis, and treatment of thi...
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Results of a phase I open randomized comparative crossover clinical trial to assess the safety and pharmacokinetics of Glurazyme® (imiglucerase) in comparison with the reference pr...
Published 2019-12-01Subjects: “…enzyme replacement therapy…”Background. Currently, the main treatment for Gaucher disease is enzyme replacement therapy. Recombinant glucocerebrosidase (imiglu-cerase) is the first biotechnological drug for enzyme replacement therapy with proven clinical efficacy and safety for the treatment of patients of different ages with...
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Damages of Cardiovascular System at Mucopolysaccharidosis Type I: Clinical Cases
Published 2020-01-01Subjects: Get full textBackground. Cardiac involvement in patients with mucopolysaccharidosis (MPS) type I, or Hurler syndrome, has various phenotypes.Clinical Case Description. In the first case symptoms were indicative of acute severe heart failure which was confirmed by laboratory and instrumental diagnostic methods. L...
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Idursulfase Beta (Hunterase) Therapeutic Experience in a Patient with Mucopolysaccharidosis Type II
Published 2023-08-01Subjects: Get full textBackground. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked recessive disease caused by lysosomal enzyme iduronate-2-sulfatase deficiency resulting in progressive glycosaminoglycans (GAG) accumulation in tissues (dermatan sulfate and heparan sulfate). GAG accumulation in cells...
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Experience of Idursulfase Beta Administration in the Child with Mucopolysaccharidosis Type II: Clinical Case
Published 2020-12-01Subjects: Get full textBackground. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare hereditary lysosomal storage disease associated with iduronate-2-sulfatase deficiency. Patients with MPS II require life-long enzyme replacement therapy (ERT) to replace the deficiency of endogenous enzyme. There are two m...
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EFFICACY AND SAFETY OF ENZYME REPLACEMENT THERAPY IN CHILDREN WITH MUCOPOLYSACCHARIDOSIS TYPE I, II, AND VI: A SINGLE-CENTER COHORT STUDY
Published 2018-04-01Subjects: Get full textBackground. There are limited data on the efficacy of long-term enzyme replacement therapy (ERT) in children with mucopolysaccharidosis (MPS).Objective. Our aim was to study the efficacy and safety of long-term ERT in children with MPS type I, II, and VI.Methods. We analyzed the results of ERT with...
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Infantile Pompe disease: Clinical picture, diagnosis, and treatment
Published 2015-02-01Subjects: Get full textPompe disease is a rare inherited disease that belongs to lysosomal accumulation diseases and can be considered as cardiac glycogenosistype II, as well as a severe neuromuscular disease or metabolic myopathy. Physicians of different specialties very rarely identify this pathology, which is due to bo...
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Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open‐label, single‐arm, phase 3, and postmarketing clinical study
Published 2023-07-01Subjects: Get full textAbstract Introduction Adenosine deaminase (ADA) deficiency is an ultrarare inherited purine metabolism disorder characterized by severe combined immunodeficiency. Elapegademase‐lvlr is a new pegylated recombinant bovine ADA used in enzyme‐replacement therapy (ERT) for ADA deficiency. Therefore, repl...
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Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Review
Published 2021-12-01Subjects: Get full textMucopolysaccharidosis type II (MPS II; Hunter syndrome) is X-linked hereditary disease from the group of lysosomal storage disease. Its prevalence is 3–7 cases per 1 million live-born boys. MPS II occurs due to the deficiency of iduronate-2-sulfatase enzyme because of pathological changes in the str...
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Mucopolysaccharidosis Type I (Hurler – Scheie Syndrome): Case Report
Published 2024-09-01Subjects: Get full textBackground. Mucopolysaccharidosis type I (MPS I) is an inherited disease caused by pathogenic variants in the IDUA gene, which encodes the lysosomal enzyme alpha-L-iduronidase. This clinical case demonstrates the importance of diagnosing rare diseases when patients have phenotypic features indicatin...
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Contemporary Understanding of Diagnosis and Treatment of Children with Cystic Fibrosi
Published 2015-12-01Subjects: Get full textThe issue of contemporary diagnosis and correct management of patients with cystic fibrosis is relevant not only for Russia, but for the entire world. Despite achievements of the contemporary medical science, underdiagnosis of this systemic genetic disorder leading to severe incapacitation and death...
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Modern Clinical Guidelines for the Management of Patients with Gaucher Disease
Published 2024-12-01Subjects: Get full textThis article presents data on the epidemiology, pathogenesis, modern classification and the main clinical manifestations of Gaucher disease in children. The criteria for differential diagnosis with other diseases are given. It has been shown that the only effective method of treating Gaucher disease...
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