Important Safety Information: Certain patients should not use CERDELGA based on their CYP2D6 metabolizer status due to an increased risk of side effects, including heart problems. Do not use CERDELGA if you are an Extensive Metabolizer (EM) taking a medicine that is a strong or moderate CYP2D6 inhibitor along with another medicine that is a strong or... View more

Treatment Options

There are 2 types of treatment approaches for Gaucher disease type 1, oral substrate reduction therapy (SRT) and enzyme replacement therapy (ERT). While the SRT and ERT work in different ways, the goal of each treatment is the same: to reduce the accumulation of excess GL-1.6

Understanding treatment options

More than 90% of Gaucher disease patients have type 1, making it the most common type of Gaucher disease. Treatment options are available, including oral therapy.2

Treating Gaucher disease type 1

There are 2 treatment approaches for Gaucher disease type 1: substrate reduction therapy (SRT) and enzyme replacement therapy (ERT). While SRT and ERT work in different ways, the goal of each treatment is the same: to reduce the accumulation of excess GL-1.6

Substrate Reduction Therapy (SRT)
Cerdelga is a first-line SRT9
SRT inhibits glucosylceramide synthase, thereby slowing down system-wide accumulation of GL-1, allowing the cells’ residual enzyme activity to break down the substrate.6,10

Treatment options and mechanisms of actions  

Enzyme Replacement Therapy (ERT)
ERT supplements acid beta-glucosidase, thereby improving degradation of GL-1 in the cells of monocyte/macrophage lineage.6,11

GL-1=glucosylceramide; SRT=substrate replacement therapy; ERT=enzyme replacement therapy.

*Figure was adapted from 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).

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Treatment options include oral therapy

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References:
  1. Mistry PK, Sadan S, Yang R, et al. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists–oncologists and an opportunity for early diagnosis and intervention. Am J Hematol. 2007;82(8):697-701.
  2. Mistry PK, Cappellini MD, Lukina E, et al. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110-115.
  3. Weinreb NJ. Pathophysiology, clinical features, and natural history of Gaucher disease. Clin Adv Hematol Oncol. 2012;10(6) Suppl 8:3-6
  4. Memorial Sloan Kettering Cancer Center. More Ashkenazi Jews have gene defect that raises inherited breast cancer risk. The Oncologist News Bulletin. 1996;1:335
  5. Mistry PK. Genetics and diagnosis of Gaucher disease. Clin Adv Hematol Oncol. 2012;10(6) Suppl 8:7-9.
  6. 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). pii: E441.
  7. Lachmann RH, Grant IR, Halsall D, et al. Twin pairs showing discordance of phenotype in adult Gaucher’s disease. Q J Med. 2004;97(4):199-204.
  8. Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biol Targets Ther. 2010;4:299-313.
  9. Pleat R, Cox TM, Burrow TA, et al. Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trial. Mol Genet Metab Rep. 2016;9:25-28.
  10. Shayman JA. Glucosylceramide synthase inhibitor treatment of type 1 Gaucher disease. Drugs Future. 2010;35(8):613-620.
  11. Deegan PB, Cox TM. Imiglucerase in the treatment of Gaucher disease: a history and perspective. Drug Des Devel Ther. 2012;6:81-106.