RUSSIAN PEDIATRIC EXPERIENCE ON ASSESSING THE EFFECTIVENESS OF IMIGLUCERASE FOR LONG-TERM ENZYME REPLACEMENT THERAPY OF GAUCHER DISEASE TYPE 1 IN CHILDREN

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Abstract

Background: Today the gold standard for the treatment of Gaucher’s disease (GD) is an enzyme replacement therapy (ERT) which allows to stop the main clinical manifestations of the disease and to improve the quality of life in patients. In Russian pediatric practice, there are no publications which assess the effects of long-term ERT in children with GD type 1.

Aim: To evaluate the effectiveness of imiglucerase for the treatment of Gaucher’s disease of type 1 in child population of the Russian Federation.

Materials and methods: An evaluation of the effectiveness of enzyme replacement therapy was carried out by analyzing the monitoring data of 60 patients who were entered in the Russian pediatric registry of Gaucher disease at the National Scientific and Practical Center for Children’s Health for the period 2013−2016. Patients received continuous infusions of imiglucerase at a dose of 30−60 U/kg/2 weeks. Among of 60 children with Gaucher’s disease type 1, in 35 (group I) were recorded the dynamics of clinical and laboratory-instrumental indices during three years of therapy and in 25 (group II) ― an assessment of changes in quality of life parameters according to the PedsQL questionnaire within one year of treatment.

Results: In group I, statistically significant changes for all key parameters (p<0.001) were detected: median hemoglobin level and platelet count increased from 106 to 128 g/l and from 85 to 165×109/l, respectively; median chitotriosidase level decreased from 8303 to 1680 nmol/h/mL; median linear size of length and width of the spleen decreased by 54.5% and 40.0%, respectively, and the right lobe of the liver by 15%; parameters of physical development (height and weight) improved and median bone mineral density Z-score for the lumbar spine increased from -1.3 to -0.3. In group II: basing on the answers of children and parents, a statistically significant improvement (p<0,05) of physical, emotional, and social functioning and the total score of quality of life was observed in 17 children aged 5−18 years; according to the parents’ answers, the increase of physical functioning was detected in 8 children aged 2−4 years.

Conclusions: The timely appointment of ERT with imiglucerase in adequate dose and the regular infusion regime allows achievement of the key points of the treatment within 3 years and significant improvement of the quality of life parameters in children with GD type 1 in a year.

About the authors

G. B. Movsisyan

National Scientific and Practical Center of Children’s Health; N.I.Pirogov Russian National Research Medical University

Author for correspondence.
Email: gongurik@mail.ru
ORCID iD: 0000-0003-2881-4703
Moscow Россия

L. S. Namazova-Baranova

National Scientific and Practical Center of Children’s Health; I.M.Sechenov First Moscow State Medical University; N.I.Pirogov Russian National Research Medical University

Email: namazova@nczd.ru
ORCID iD: 0000-0002-2209-7531
Moscow Россия

K. V. Savostyanov

National Scientific and Practical Center of Children’s Health

Email: savostyanovKV@nczd.ru
ORCID iD: 0000-0003-4885-4171
Moscow Россия

O. S. Gundobina

National Scientific and Practical Center of Children’s Health

Email: gundobina@nczd.ru
ORCID iD: 0000-0001-6381-0367
Moscow Россия

E. L. Semikina

National Scientific and Practical Center of Children’s Health; I.M.Sechenov First Moscow State Medical University; N.I.Pirogov Russian National Research Medical University

Email: semikina@nczd.ru
ORCID iD: 0000-0001-8923-4652
Moscow Россия

M. V. Ryazanov

National Scientific and Practical Center of Children’s Health

Email: ryazanov@nczd.ru
ORCID iD: 0000-0001-7275-642X
Moscow Россия

M. L. Travina

National Scientific and Practical Center of Children’s Health

Email: tvtmarina@yandex.ru
ORCID iD: 0000-0003-3774-2721
Moscow Россия

V. V. Chernikov

National Scientific and Practical Center of Children’s Health

Email: chernikov@nczd.ru
ORCID iD: 0000-0002-8750-9285
Moscow Россия

A. A. Pushkov

National Scientific and Practical Center of Children’s Health

Email: pushkovAA@nczd.ru
ORCID iD: 0000-0001-6648-2063
Moscow Россия

T. M. Bukina

Medico-Genetic Scientific Center

Email: nbo-resultat@yandex.ru
ORCID iD: 0000-0001-8465-1131
Moscow Россия

References

  1. Rosenbloom BE, Weinreb NJ. Gaucher disease: a comprehensive review. Crit Rev Oncog. 2013;18(3):163–175. doi: 10.1615/critrevoncog.2013006060.
  2. Beutler E, Grabowski G. Glucosylceramide lipidosis ― Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited diseases. 8th ed. New York: McGraw-Hill; 2001. pp. 3635–3668.
  3. Baris HN, Cohen IJ, Mistry PK. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev. 2014;12 Suppl 1:72–81.
  4. Grabowski GA, Kolodny EH, Weinreb NJ, Rosenbloom BE, Prakash-Cheng A. Gaucher disease: Phenotypic and genetic variation. In: Scriver CR, Beaudet A, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited diseases. 9th ed. New York: McGraw-Hill; 2006. pp. 3635–3658.
  5. Dandana A, Ben Khelifa S, Chahed H, et al. Gaucher disease: clinical, biological and therapeutic aspects. Pathobiology. 2016;83(1):13–23. doi: 10.1159/000440865.
  6. Мовсисян Г.Б., Гундобина О.С., Намазова-Баранова Л.С. Оценка эффективности ферментозаместительной терапии у детей с болезнью Гоше по данным международных исследований // Педиатрическая фармакология. ― 2014. ― Т.11. ― №3 ― С. 80–84. [Movsisyan GB,Gundobina OS, Namazova-Baranova LS. Evaluation of enzyme replacement therapy efficacy in children with Gaucher’s disease according to the international studies. Pediatric pharmacology. 2014;11(3):80−84. (In Russ).] doi: 10.15690/pf.v11i3.1014.
  7. Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160(18):2835–2843. doi: 10.1001/archinte.160.18.2835.
  8. Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med. 2006;160(6):603–608. doi: 10.1001/archpedi.160.6.603.
  9. Weinreb N, Taylor J, Cox T, et al. A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase. Am J Hematol. 2008;83(12):890–895. doi: 10.1002/ajh.21280.
  10. Andersson H, Kaplan P, Kacena K, Yee J. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics. 2008;122(6):1182–1190. doi: 10.1542/peds.2007-2144.
  11. Ультразвуковая анатомия здорового ребенка / Под ред. Дворяковского И.В. ― М.: Фирма СТРОМ; 2009. ― 384 с. [Ul’trazvukovaya anatomiyazdorovogo rebenka. Ed by Dvoryakovskii I.V. Moscow: Firma STROM; 2009. 384 p. (In Russ).]
  12. Баранов А.А., Альбицкий В.Ю., Винярская И.В. Изучение качества жизни в педиатрии. Вып. 10. ― М.: Союз педиатров России; 2010. ― 267 с. [Baranov AA, Al’bitskii VYu, Vinyarskaya IV. Izuchenie kachestva zhizni v pediatrii. Issue 10. Moscow: Soyuz pediatrov Rossii; 2010. 267 p. (In Russ).]
  13. Serratrice C, Carballo S, Serratrice J, Stirnemann J. Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy. Core Evidence. 2016;11:37–47. doi: 10.2147/Ce.S93717.
  14. Elstein D, Zimran A. Review of the safety and efficacy of imiglucerase treatment of Gaucher disease. Biologics. 2009;3:407–417. doi: 10.2147/BTT.S3769.
  15. Weinreb NJ, Goldblatt J, Villalobos J, et al. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J Inherit Metab Dis. 2013;36(3):543–553. doi: 10.1007/s10545-012-9528-4.
  16. Deegan PB, Cox TM. Imiglucerase in the treatment of Gaucher disease: a history and perspective. Drug Des Devel Ther. 2012;6:81–106. doi: 10.2147/DDDT.S14395.
  17. Grabowski GA, Andria G, Baldellou A, et al. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.Eur J Pediatr. 2004;163(2):58–66. doi: 10.1007/s00431-003-1362-0.
  18. Mistry PK, Cappelini MD, Lukina E, et al. Consensus Conference: a reappraisal of Gaucher disease — diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110–115. doi: 10.1002/ajh.21888.
  19. Баранов А.А., Намазова-Баранова Л.С., Гундобина О.С., и др. Ведение детей с болезнью Гоше. Современные клинические рекомендации // Педиатрическая фармакология. ― 2016. ― Т.13. ― №3 ― С. 244–250. [Baranov AA, Namazova-Baranova LS, Gundobina OS, et al. Managing children with with Gaucher isease: modern clinical recommendations. Pediatric pharmacology. 2016;13(3):244−250. (In Russ).] doi: 10.15690/pf.v13i3.1574.
  20. Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat. 2008;29(5):567–583. doi: 10.1002/humu.20676.
  21. Linari S, Castaman G. Hematological manifestations and complications of Gaucher disease. Expert Rev Hematol. 2016;9(1):51–58. doi: 10.1586/17474086.2016.1112732.
  22. Stirnemann J, Belmatoug N, Vincent C, et al. Bone events and evolution of biologic markers in Gaucher disease before and during treatment. Arthritis Res Ther. 2010;12(4):R156. doi: 10.1186/ar3111.
  23. Shehi B, Bocari G, Vyshka G, et al. Gaucher’s disease in Albanian children: casuistics and treatment. Iran J Pediatr. 2011;21(1):1–7.
  24. Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002;113(2):112–119. doi: 10.1016/S0002-9343(02)01150-6.
  25. Mistry PK, Weinreb NJ, Kaplan P, et al. Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol Dis. 2011;46(1):66–72. doi: 10.1016/j.bcmd.2010.10.011.
  26. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(4 Suppl 5):4–14. doi: 10.1053/j.seminhematol.2004.07.009.
  27. Kauli R, Zaizov R, Lazar L, et al. Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and/or enzyme replacement therapy. Isr Med Assoc J. 2000;2(2):158–163.
  28. Giraldo P, Solano V, Perez-Calvo JI, et al. Quality of life related to type 1 Gaucher disease: Spanish experience. Qual Life Res. 2005;14(2):453–462. doi: 10.1007/s11136-004-0794-y.
  29. Masek BJ, Sims KB, Bove CM, et al. Quality of life assessment in adults with type 1 Gaucher disease. Qual Life Res. 1999;8(3):263–268. doi: 10.1023/A:1008859420641.
  30. Damiano AM, Pastores GM, Ware JE. The health-related quality of life of adults with Gaucher’s disease receiving enzyme replacement therapy: results from a retrospective study. Qual Life Res. 1998;7(5):373–386. doi: 10.1023/A:1008814105603.
  31. Dweck A, Abrahamov A, Hadas-Halpern I, et al. Type I Gaucher disease in children with and without enzyme therapy. Pediatr Hematol Oncol. 2002;19(6):389–397. doi: 10.1080/08880010290097143.
  32. Drelichman G, Ponce E, Basack N, et al. Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease. J Pediatr. 2007;151(2):197–201. doi: 10.1016/j.jpeds.2007.02.057.

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