Journal of mucopolysaccharidosis and rare diseases

Association for Research of MPS and Rare Diseases (뮤코다당증연구학회)
권호 표지
DOI QR코드

DOI QR Code

Enzyme Replacement Therapy for Lysosomal Storage Disease in Indonesia

  • Sjarif, Damayanti Rusli (Department of Pediatrics, Cipto Mangunkusumo Hospital, Faculty of Medicine, University of Indonesia) ;
  • Hafifah, Cut Nurul (Department of Pediatrics, Cipto Mangunkusumo Hospital, Faculty of Medicine, University of Indonesia)
  • Received : 2018.06.02
  • Accepted : 2018.06.11
  • Published : 2018.06.30
Download PDF
⟨ Previous Next ⟩

Abstract

Rare diseases are life threatening or chronically debilitating diseases with a low prevalence (less than 2,000 people in a population), which includes lysosomal storage diseases. These diseases are often seen as unimportant especially in developing countries, such as Indonesia, due to small number of patients. National Rare Disease Center in Indonesia was pioneered almost 20 years ago and officially established in 2017 by the Indonesian Minister of Health. Lysosomal storage disease become the most commonly found inborn errors of metabolism (IEM) in Indonesia due to easily accessible diagnostic facilities. Currently there are 7 patients receiving ERT in this mixed-donation scheme, one patient with Gaucher disease and 6 patients with MPS type II. Few challenges for ERT in Indonesia include importation through special access scheme, preparation of ERT infusion in intensive care settting, and cost of treatment. Even with limited resources, healthcare professionals in Indonesia have been giving the best care possible for rare disease patients, especially to provide diagnostic facilities through collaboration and treatment options for treatable rare diseases. Improvements in care for rare disease patients are still needed.

Keywords

References

  1. Franco P. Orphan drugs: the regulatory environment. Drug Discov Today 2013;18:163-72. https://doi.org/10.1016/j.drudis.2012.08.009
  2. Shafie AA, Chaiyakunapruk N, Supian A, Lim J, Zafra M, Hassali MAA. State of rare disease management in Southeast Asia. Orphanet J Rare Dis 2016;11:107. https://doi.org/10.1186/s13023-016-0460-9
  3. Health Grades. Statistics by country for rare diseases. Right diagnosis 2018. [Internet]. Available from: http://www.rightdiagnosis.com/r/rare_diseases/stats-country.htm.
  4. Indonesia Central Bureau of Statistics. Perkiraan Penduduk Beberapa Negara, 2000-2014 (article in Indonesian). Indonesia Central Bureau of Statistics; 2018 [Internet]. Available from: https://www.bps.go.id/dynamictable/2015/10/07/960/perkiraan-penduduk-beberapa-negara-2000-2014.html.
  5. Indonesia National Rare Disease Centre. Rare Disease Day 2018 Fact Sheet. 2018.
  6. Parenti G, Pignata C, Vajro P, Salerno M. New strategies for the treatment of lysosomal storage diseases (Review). Int J Mol Med 2013;31:11-20. https://doi.org/10.3892/ijmm.2012.1187
  7. Food and Drugs Administration. FDA approves first treatment for a form of Batten disease [Internet]. FDA [cited 2018 May 15]. Available from: https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm555613.html.
  8. Food and Drugs Administration. FDA approves treatment for rare genetic enzyme disorder [Internet]. FDA [cited 2018 May 15]. Available from: https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm585308.html.