Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
권호 표지

Overview of the Treatment of Lysosomal Storage Diseases

리소좀 축적 질환 치료의 개요

  • Minji Im (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Sung Yoon Cho (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 임민지 (삼성서울병원 소아청소년과학교실) ;
  • 조성윤 (삼성서울병원 소아청소년과학교실)
  • Published : 2024.12.31
Download PDF
⟨ Previous Next ⟩

Abstract

Lysosomal storage diseases (LSDs) are a group of monogenic inherited metabolic disorders that result in the progressive accumulation of undegraded substrates inside lysosomes, leading to dysfunction of the lysosomal system. Enzyme replacement therapy (ERT) is currently available for several LSDs, including Gaucher disease, Fabry disease, Pompe disease, and mucopolysaccharidosis types I, II, IVa, VI and VII. This treatment approach is considered relatively safe and effective. It is important to note that ERT cannot reverse symptoms that have already progressed, making early diagnosis crucial for improving patient prognosis. The benefits of initiating ERT early include slowing disease progression and enhancing the patient's quality of life. Recently, treatment options are widening, which are expected to address the limitations of existing treatments and provide greater benefits to patients. These advancements hold promise for improved outcomes in the management of LSDs.

리소좀 축적 질환(Lysosomal storage disease, LSD)은 70개 이상의 단일 유전자 대사 장애 질환들을 말하며, 특정 효소 결핍으로 인해 리소좀 내부에 분해되지 않는 기질이 점진적으로 축적되어 관련 증상을 나타낸다. 이 질환의 치료로서 효소 대체 요법(Enzyme replacement therapy, ERT)이 사용되고 있다. 현재까지 효소 대체 요법이 가능한 리소좀 축적 질환에는 고셔병(Gaucher disease), 파브리병(Fabry disease), 폼페병(Pompe disease), 뮤코다당체침착증(mucopolysaccharidosis, MPS) 1형, 2형, 4a형, 6, 7형이 있고, 비교적 안전하고 효과적인 치료법으로 보인다. 기존의 효소 대체 요법으로 이미 진행이 된 증상에 대해서는 비가역적이므로 조기 진단이 환자의 예후에 중요하다. 조기에 효소 대체 요법을 시작함으로서 질병의 진행을 느리게 하여 환자의 삶의 질을 상승시킨다. 최근 새로운 치료법이 지속적으로 개발되고 있어 기존 치료의 단점을 보완하여 환자에게 더 큰 이득을 줄 수 있을 것으로 기대된다.

Keywords

Acknowledgement

The authors are grateful to all staff members, doctors, and statistical consultants who were involved in this study.

References

  1. Martina JA, Raben N, Puertollano R. SnapShot: Lysosomal Storage Diseases. Cell 2020;180:602-e1. https://doi.org/10.1016/j.cell.2020.01.017
  2. Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Lysosomal storage diseases. Nat Rev Dis Primers 2018;4:27. https://doi.org/10.1038/s41572-018-0025-4
  3. Roshan Lal T, Seehra GK, Steward AM, Poffenberger CN, Ryan E, Tayebi N, et al. The natural history of type 2 Gaucher disease in the 21st century: A retrospective study. Neurology 2020;95:e2119-e30. https://doi.org/10.1212/WNL.0000000000010605
  4. Kong W, Lu C, Ding Y, Meng Y. Update of treatment for Gaucher disease. Eur J Pharmacol 2022;926:175023. https://doi.org/10.1016/j.ejphar.2022.175023
  5. Hollak CE, Weinreb NJ. The attenuated/late onset lysosomal storage disorders: Therapeutic goals and indications for enzyme replacement treatment in Gaucher and Fabry disease. Best Pract Res Clin En
  6. Cox TM, Aerts JM, Belmatoug N, Cappellini MD, vom Dahl S, Goldblatt J, et al. Management of nonneuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. J
  7. Cox T, Lachmann R, Hollak C, Aerts J, van Weely S, Hrebicek M, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT918) to decrease substrate biosynthesis. Lancet 2000;355:1481-5. https://doi.org/10.1016/S0140-6736(00)02161-9
  8. Platt FM, Neises GR, Dwek RA, Butters TD. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem 1994;269:8362-5. https://doi.org/10.1016/S0021-9258(17)37202-2
  9. Almeida-Calpe A, López de Frutos L, Medrano-Engay B, García-García CB, Ribate MP, Giraldo P. Metabolizing profile of the cytochrome pathway CYP2D6, CYP3A4 and the ABCB 1 transporter in Spanish patients affected by Gaucher disease. Chem Biol Interact 2021;345:109527. https://doi.org/10.1016/j.cbi.2021.109527
  10. Shemesh E, Deroma L, Bembi B, Deegan P, Hollak C, Weinreb NJ, et al. Enzyme replacement and substrate reduction therapy for Gaucher disease. Cochrane Database Syst Rev 2015;2015:Cd010324. https://doi.org/10.1002/14651858.CD010324.pub2
  11. Elstein D, Dweck A, Attias D, Hadas-Halpern I, Zevin S, Altarescu G, et al. Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement. Blood 2007;110:2296-301. https://doi.org/10.1182/blood-2007-02-075960
  12. Lenders M, Brand E. Fabry Disease: The Current Treatment Landscape. Drugs 2021;81:635-45. https://doi.org/10.1007/s40265-021-01486-1
  13. Linthorst GE, Hollak CE, Donker-Koopman WE, Strijland A, Aerts JM. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 2004;66:1589-95. https://doi.org/10.1111/j.1523-1755.2004.00924.x
  14. McCafferty EH, Scott LJ. Migalastat: A Review in Fabry Disease. Drugs 2019;79:543-54. https://doi.org/10.1007/s40265-019-01090-4
  15. Ruderfer I, Shulman A, Kizhner T, Azulay Y, Nataf Y, Tekoah Y, et al. Development and Analytical Characterization of Pegunigalsidase Alfa, a Chemically Cross-Linked Plant Recombinant Human α-Galactosidase-A for Treatment of Fabry Disease. Bioconjug Chem 2018;29:1630-9. https://doi.org/10.1021/acs.bioconjchem.8b00133
  16. Kohler L, Puertollano R, Raben N. Pompe Disease: From Basic Science to Therapy. Neurotherapeutics 2018;15:928-42. https://doi.org/10.1007/s13311-018-0655-y
  17. Dasouki M, Jawdat O, Almadhoun O, Pasnoor M, McVey AL, Abuzinadah A, et al. Pompe disease: literature review and case series. Neurol Clin 2014;32:751-76, ix. https://doi.org/10.1016/j.ncl.2014.04.010
  18. George KA, Anding AL, van der Flier A, Tomassy GS, Berger KI, Zhang TY, et al. Pompe disease: Unmet needs and emerging therapies. Mol Genet Metab 2024;143:108590. https://doi.org/10.1016/j.ymgme.2024.108590
  19. Ullman JC, Mellem KT, Xi Y, Ramanan V, Merritt H, Choy R, et al. Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders. Sci Transl Med 2024;16:eadf1691. https://doi.org/10.1126/scitranslmed.adf1691
  20. Ronzitti G, Collaud F, Laforet P, Mingozzi F. Progress and challenges of gene therapy for Pompe disease. Annals of Translational Medicine 2019;7:287. https://doi.org/10.21037/atm.2019.04.67
  21. Jameson E, Jones S, Remmington T. Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I. Cochrane Database Syst Rev 2016;4:Cd009354. https://doi.org/10.1002/14651858.CD009354.pub4
  22. Al-Hertani W, Pathak RR, Evuarherhe O, Carter G, Schaeffer-Koziol CR, Whiteman DAH, et al. Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review. Int J Mol Sci 2024;25. https://doi.org/10.3390/ijms25168573
  23. Kim C, Seo J, Chung Y, Ji HJ, Lee J, Sohn J, et al. Comparative study of idursulfase beta and idursulfase in vitro and in vivo. J Hum Genet 2017;62:167-74. https://doi.org/10.1038/jhg.2016.133
  24. Michaud M, Belmatoug N, Catros F, Ancellin S, Touati G, Levade T, et al. [Mucopolysaccharidosis: A review]. Rev Med Interne 2020;41:180-8. https://doi.org/10.1016/j.revmed.2019.11.010
  25. Lee CL, Chuang CK, Chiu HC, Tu RY, Lo YT, Chang YH, et al. Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome. Drug Des Devel Ther 2022;16:143-54.
  26. McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol 2021;37:100874. https://doi.org/10.1016/j.spen.2021.100874
  27. Li S, Huang R, Meng Y, Liu Y, Qian J, Zou J, et al. Real-world pharmacovigilance analysis of galsulfase: a study based on the FDA adverse event reporting system (FAERS) database. Front Pharmacol 2024;15:1420126. https://doi.org/10.3389/fphar.2024.1420126
  28. Nagpal R, Goyal RB, Priyadarshini K, Kashyap S, Sharma M, Sinha R, et al. Mucopolysaccharidosis: A broad review. Indian J Ophthalmol 2022;70:2249-61. https://doi.org/10.4103/ijo.IJO_425_22
  29. Harmatz P, Whitley CB, Wang RY, Bauer M, Song W, Haller C, et al. A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease. Mol Genet Metab 2018;123:488-94. https://doi.org/10.1016/j.ymgme.2018.02.006