Тромбоз, гемостаз и реология

Tromboz, Gemostaz I Reologiya
scientific and practical journal

ISSN 2078–1008 (Print); ISSN 2687-1483 (online)
2022, Review
2022

Current application issues of modern technologies in the diagnosis and treatment of Gaucher disease: 616.411–006.32

Review
Published 2023-02-18
Mitkhat Z. Gasanov
Rostov State Medical University, Health Ministry of Russian Federation; 29 Nakhichevanskiy Pereulok, Rostov-on-Don 344022, Russia;
ФГБОУ ВО «Ростовский государственный медицинский университет» Министерства здравоохранения Российской Федерации; Россия, 344022 Ростов-на-Дону, Нахичеванский переулок, 29;
https://orcid.org/0000-0001-5856-0404 (unauthenticated)
Vladimir P. Terentiev
Sechenov University; 8 bldg. 2, Trubetskaya Str., Moscow 119991, Russia;
ФГАОУ ВО Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет); Россия, 119991 Москва, ул. Трубецкая, 8, стр. 2;
https://orcid.org/0000-0003-3607-5832 (unauthenticated)
Dmitry A. Kudlay
Sechenov University; 8 bldg. 2, Trubetskaya Str., Moscow 119991, Russia; National Research Center — Institute of Immunology, Federal Medical-Biological Agency of Russia; 24 Kashirskoe Shosse, Moscow 115522, Russia; «GENERIUM» JSC; 10 Testovskaya Str., Moscow 123112, Russia;
ФГАОУ ВО Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет); Россия, 119991 Москва, ул. Трубецкая, 8, стр. 2; ФГБУ «Государственный научный центр "Институт иммунологии"» Федерального медико-биологического агентства; Россия, 115522 Москва, Каширское шоссе, 24; АО «ГЕНЕРИУМ»; Россия, 123112 Москва, ул. Тестовская, 10;
https://orcid.org/0000-0003-1878-4467 (unauthenticated)
Elena Yu. Komartseva
Rostov Regional Clinical Hospital; 170 Blagodatnaya Str., Rostov-on-Don 344085, Russia
ГБУ Ростовской области «Ростовская областная клиническая больница»; Россия, 344085 Ростов-на-Дону, ул. Благодатная, 170
Anton Yu. Borozinets
«GENERIUM» JSC; 10 Testovskaya Str., Moscow 123112, Russia;
АО «ГЕНЕРИУМ»; Россия, 123112 Москва, ул. Тестовская, 10;
https://orcid.org/0000-0002-4863-8471 (unauthenticated)

Keywords

Gaucher disease in children
β-glucocerebrosidase
hepatosplenomegaly
enzyme replacement therapy
ERT
imiglucerase
Glurazyme
  Full Text

Abstract

Summary. Gaucher disease is sphingolipidosis, a rare hereditary disease resulting from a deficiency of acid β-glucocerebrosidase which insufficient activity leads to the accumulation of glucocerebroside in organs and tissues and disturbances of their functions, that is accompanied by the appearance of a diverse clinical picture. The breadth of clinical manifestations, the relative non-speci- ficity of symptoms, the large age range of the disease onset, along with the reduced alertness of physicians, leads to late diagnosis, errors in the interpretation of physical and laboratory-instrumental examination results. Decreased glucocerebrosidase activity in peripheral leukocytes or dry blood spots allows to verify the diagnosis. Thanks to next-generation genetic sequencing, it has become possible not only to detect the type of mutation, but also to identify genetic modifiers of the disease. Enzyme replacement therapy (ERT) is a key aspect in Gaucher disease treatment. Imiglucerase the most studied and widely used ERT medication. Treatment correction and assessment of its effectiveness is carried out taking into account the achievement of individual therapeutic goals.

For citation: Gasanov M.Z., Terentiev V.P., Kudlay D.A., Komartseva E. Yu., Borozinets A. Yu. Current application issues of modern technologies in the diagnosis and treatment of Gaucher disease. Tromboz, gemostaz i reologiya. 2022;(4):10–21. (In Russ.).

References

  1. Vertkin A.L., Evsyukova M.V. Orphan diseases in outpatient therapeutic practice. Terapiya. 2022;8(6):54–63. (In Russ.). DOI: 10.18565/therapy.2022.6.54–63.
  2. Gaucher P.C.E. De l’épithélioma primitif de la râte: hypertrophie idiopathique de la râte sans leucémie. Paris: Academic Thesis, 1882. 31 p. Available at: https://archive.org/details/b30577792. [Accessed: 19.07.2022].
  3. Nalysnyk L., Rotella P., Simeone J. C. et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology. 2017;22(2):65–73. DOI: 10.1080/10245332.2016.1240391.
  4. Stirnemann J., Vigan M., Hamroun D. et al. The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients. Orphanet J Rare Dis. 2012;7:77. DOI: 10.1186/1750–1172–7–77.
  5. Ponomarev R.V. Dynamics of laboratory parameters reflecting the functional activity of the macrophage system in patients with type I Gaucher disease under pathogenetic therapy: Avtoref. dis... kand. med. nauk. Moscow, 2020. 24 pp. (In Russ.).
  6. Lukina E.A. Gaucher disease. 10 years later. Moscow: OOO «Prakticheskaya medicina». 2021. 56 pp. (In Russ.).
  7. Dumitrascu D.L. Gaucher disease: an update. Med Pharm Rep. 2021;94(Suppl No 1): S54–S56. DOI: 10.15386/mpr-2231.
  8. Sidransky E. Gaucher disease: complexity in a «simple» disorder. Mol Genet Metab. 2004;83(1–2):6–15. DOI: 10.1016/j. ymgme.2004.08.015.
  9. Hughes D., Sidransky E. Gaucher disease. UpToDate. 2022. Available at: https://www.uptodate.com/contents/gaucher-disease. [Accessed: 19.07.2022].
  10. Belogurova M. B., Dinikina Yu.V., Kudlay D. A., Borozinets A. Yu. Gaucher disease in children: what has changed in the 21st century. Rossijskij zhurnal detskoj gematologii i onkologii. 2019;6(4):19–24. (In Russ.). DOI: 10.21682/2311–1267–2019–6–4– 19–24.
  11. Grabowski G., Zimran A., Ida H. Gaucher disease types 1 and 3: phenotypic characterization of large populations from the ICGG Gaucher Registry. Am J Hematol. 2015;90 Supp 1: S12–8. DOI: 10.1002/ajh.24063.
  12. Gupta N., Oppenheim I., Kauvar E. et al. Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity. Blood Cells Mol Dis. 2011;46(1):75–84. DOI: 10.1016/j.bcmd.2010.08.012.
  13. Grabowski G. A., Antommaria A. H.M., Kolodny E. H., MistryP.K.Gaucher disease: basic and translational science needs for more complete therapy and management. Mol Genet Metab. 2021;132(2):59–75. DOI: 10.1016/j.ymgme.2020.12.291.
  14. Clinical guidelines for the diagnosis and treatment of Gaucher disease in adults. Moscow: Nacional’noe gematologicheskoe obshchestvo, 2018. 17 pp. (In Russ.). Available at: https:// npngo.ru/uploads/media_document/285/64c25625-c06b-498ca607-ce6a9006efe0.pdf. [Accessed: 19.07.2022].
  15. Özdemir G. N., Gündüz E. Gaucher disease for hematologists. Turk J Haematol. 2022;39(2):136–9. DOI: 10.4274/tjh.galenos.2021.2021.0683.
  16. Nagral A. Gaucher disease. J Clin Exp Hepatol. 2014;4(1):37–50. DOI: 10.1016/j.jceh.2014.02.005.
  17. Adar T., Ilan Y., Elstein D., Zimran A. Liver involvement in Gaucher disease — review and clinical approach. Blood Cells Mol Dis. 2018;68:66–73. DOI: 10.1016/j.bcmd.2016.10.001.
  18. Carubbi F., Cappellini M.D., Fargion S. et al. Liver involvement in Gaucher disease: a practical review for the hepatologist and the gastroenterologist. Dig Liver Dis. 2020;52(4):368–73. DOI: 10.1016/j. dld.2020.01.004.
  19. Hughes D., Mikosch P., Belmatoug N. et al. Gaucher disease in bone: from pathophysiology to practice. J Bone Miner Res. 2019;34(6):996–1013. DOI: 10.1002/jbmr.3734.
  20. Ponomarev R.V., Lukina E.A. Gaucher disease: achievements and prospects. Terapevticheskij arhiv. 2021;93(7):830–6. (In Russ.). DOI: 10.26442/00403660.2021.7.200912.
  21. Schiffmann R., Sevigny J., Rolfs A. et al. The definition of neuronopathic Gaucher disease. J Inherit Metab Dis. 2020;43(5):1056– 9. DOI: 10.1002/jimd.12235.
  22. Do J., McKinney C., Sharma P. et al. Glucocerebrosidase and its relevance to Parkinson disease. Mol Neurodegener. 2019;14(1):36. DOI: 10.1186/s13024–019–0336–2.
  23. Lal T.R, Sidransky E. The spectrum of neurological manifestations associated with Gaucher disease. Diseases. 2017;5(1):10. DOI: 10.3390/diseases5010010.
  24. Voloshchuk I.N., Barinova I.V., Andreeva E.N. Perinatal lethal Gaucher disease. Case report. Arhiv patologii. 2021;83(4):56–60. (In Russ.). DOI: 10.17116/patol20218304156.
  25. Nguyen Y., Stirnemann J., Belmatoug N. Gaucher disease: A review. Rev Med Interne. 2019;40(5):313–22. [Article in French]. DOI: 10.1016/j.revmed.2018.11.012.
  26. Tantawy А.А.G., Adly A.A.М., Madkour S.S., SalahEl-Din N.Y. Pulmonary manifestations in young Gaucher disease patients: phenotype-genotype correlation and radiological findings. Pediatr Pulmonol. 2020;55(2):441–8. DOI: 10.1002/ppul.24544.
  27. Clinical guidelines. Other sphingolipidoses (Gaucher disease). Moscow, 2021. 44 pp. (In Russ.). Available at: https://www. pediatr-russia.ru/information/klin-rek/proekty-klinicheskikhrekomendatsiy/Болезнь Гоше_1.06.2021.pdf. [Accessed: 19.07.2022].
  28. Arends M., van Dussen L., Biegstraaten M., Hollak C.E. Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature. Br J Haematol. 2013;161(6):832–42. DOI: 10.1111/bjh.12335.
  29. Stirnemann J., Belmatoug N., Camou F. et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):441. DOI: 10.3390/ijms18020441.
  30. Pandey M., Grabowski G. Immunological cells and functions in Gaucher disease. Crit Rev Oncog. 2014;18(3):197–220. DOI: 10.1615/ critrevoncog.2013004503.
  31. Movsisyan G.B. Optimization of medical care for children with Gaucher disease in the Russian Federation: Avtoref. dis... kand. med. nauk. Moscow, 2018. 24 pp. (In Russ.).
  32. Chen Y., Sud N., Hettinghouse A., Liu C.-J. Molecular regulations and therapeutic targets of Gaucher disease. Cytokine Growth Factor Rev. 2018;41:65–74. DOI: 10.1016/j.cytogfr.2018.04.003.
  33. Mistry P.K., Liu J., Yang M. et al. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci U S A. 2010;107(45):19473–8. DOI: 10.1073/pnas.1003308107.
  34. Davidson B.A., Hassan S., Garcia E.J. et al. Exploring genetic modifiers of Gaucher disease: The next horizon. Hum Mutat. 2018;39(12):1739–51. DOI: 10.1002/humu.23611.
  35. Pawliński Ł., Tobór E., Suski M. et al. Proteomic biomarkers in Gaucher disease. J Clin Pathol. 2021;74(1):25–9. DOI: 10.1136/jclinpath-2020–206580.
  36. Horowitz M., Elstein D., Zimran A., Goker-Alpan О. New directions in Gaucher disease. Hum Mutat. 2016;37(11):1121–36. DOI: 10.1002/ humu.23056.
  37. Liu Y., Cui X., Hu B. et al. Upregulated expression of CAP1 is associated with tumor migration and metastasis in hepatocellular carcinoma. Pathol Res Pract. 2014;210(3):169–75. DOI: 10.1016/j. prp.2013.11.011.
  38. Nolasco J.G., Nolasco L.H., Da Q. et al. Complement component C3 binds to the A3 domain of von Willebrand factor. TH Open. 2018;2(3):e338-е345. DOI: 10.1055/s-0038–1672189.
  39. Movsisyan G.B., Surkov A.N., Namazova-Baranova L.S., Savostyanov K.V. Features of the diagnosis of Gaucher disease in children in the Russian Federation. Rossijskij zhurnal detskoj gematologii i onkologii. 2020;7(2):42–53. (In Russ.). DOI: 10.21682/2311–1267– 2020–7–2–42–53.
  40. Biegstraaten M., Cox T.M., Belmatoug N. et al. Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease. Blood Cells Mol Dis. 2018;68:203–8. DOI: 10.1016/j.bcmd.2016.10.008.
  41. Decision of the Council of the Eurasian Economic Commission No. 89 dated 03.11.2016 “On Approval of the Rules for Conducting Research on Biological Medicinal Products of the Eurasian Economic Union”. Astana, 2016. 714 pр. (In Russ.). Available at: http://docs.cntd.ru/document/456026116. [Accessed: 19.07.2022]. Guideline on similar biological medicinal products containing biotechnology-derived proteins as active substance: non-clinical and clinical issues. EMEA/CHMP/BMWP/42832/2005 Rev1. Committee for Medicinal Products for Human Use (CHMP). European Medicines Agency, 2014. 13 p. Available at: https://www.nebiolab. com/learning-center/bioequivalence-and-bioavailability/guidelinesimilar-biological-medicinal-products-containing-biotechnologyderived-proteins-active_en-2.pdf. [Accessed: 19.07.2022]. Иванов Р., Секарёва Г., Кравцова О. и др. Правила проведения исследований биоаналоговых лекарственных средств (биоаналогов). Фармакокинетика и фармакодинамика. 2014;1:21–36. Ivanov R., Sekareva G., Kravtsova O. et al. Guidelines for research biosimilar drugs. Farmakokinetika i farmakodinamika. 2014;1:21– 36. (In Russ.).
  42. Vassarays R.A., Chashchinova D.V., Shamonov N.A. et al. Modern approaches to viral safety of drugs manufactured by recombinant DNA technology in mammalian cells. In: Biotechnology: state and development prospects: abstracts of reports of the international congress. Moscow, 2019. 288–9. (In Russ.).
  43. Degterev M. B., Smolov M. A., Vishnevskiy A. Yu., Shukurov R.R. Physicochemical characterization of an original and biosimilar imiglucerase by mass spectrometry methods. In: Biotechnology: state and development prospects: abstracts of reports of the international congress. Moscow, 2019. 302–3. (In Russ.).
  44. FitilevS.B.,VozzhaevA.V.,ShkrebnevaI.I.etal.Resultsofaphase I open randomized, comparative crossover clinical trial to assess the safety and pharmacokinetics of Glurazim® (imiglucerase) in comparison with the reference product in healthy volunteers. Onkogematologiya. 2019;14(4):73–83. (In Russ.). DOI: 10.17650/1818– 8346–2019–14–4–73–83.
  45. SysoevaE.P.,PonomarevR.V.,LukinaK.A.etal.Evaluationofthe efficacy and safety of the biosimilar drug Glurazym (imiglucerase) in patients with Gaucher disease type I. Gematologiya i transfuziologiya. 2020;65(1):8–23. (In Russ.). DOI: 10.35754/0234–5730– 2020–65–1–8–23.
  46. Cox T.M., Amato D., Hollak C.E. et al. Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study. Orphanet J Rare Dis. 2012;7:102. DOI: 10.1186/1750– 1172–7–102.
  47. Chavananon S., Sripornsawan P., Songthawee N., Chotsampancharoen T. Successful treatment of Gaucher disease with matched sibling hematopoietic stem cell transplantation: a case report and literature review. J Pediatr Hematol Oncol. 2021;43(8):e1153-e1155. DOI: 10.1097/MPH.0000000000002129.
  48. Ringdén O., Groth C.G., Erikson A. et al. Ten years’ experience of bone marrow transplantation for Gaucher disease. Transplantation. 1995;59:864–70.
  49. Sam R., Ryan E., Daykin E., Sidransky E. Current and emerging pharmacotherapy for Gaucher disease in pediatric populations. Expert Opin Pharmacother. 2021;22(11):1489–1503. DOI: 10.1080/14656566.2021.1902989.
  50. Enquist I.B., Nilsson E., Ooka A. et al. Effective cell and gene therapy in a murine model of Gaucher disease. Proc Natl Acad Sci U S A. 2006;103(37):13819–24. DOI: 10.1073/pnas.0606016103.
  51. Desnick R.J. Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis. 2004;27(3):385–410. DOI: 10.1023/B: BOLI.0000031101.12838.c6.