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

Gaucher Prevalence

Gaucher disease is a rare, genetic disorder that causes the accumulation of glucosylceramide, also known as glucocerebroside, (GL-1) in cells, resulting in progressive, multi-organ dysfunction.1 Gaucher disease type 1 can be effectively managed once diagnosed.2

Gaucher disease type 1 is more prevalent than you think

More than 90% of Gaucher disease patients are type 1.2 Although Gaucher disease type 1 is a rare genetic condition, it’s important to understand its occurrence in different patient populations.

Estimated prevalence of Gaucher disease3,4

GD1 is pan-ethnic, and occurs in 1 in 40,000 in the general population

Pan-ethnic, and occurs in ~1 in 40,000 in the general population

GD1 is more common in people of Ashkenazi Jewish ancestry

More common in people of Ashkenazi Jewish ancestry

90% American Jews are Ashkenazi

American Jews are Ashkenazi

  • In patients of Ashkenazi Jewish ancestry, the frequency of Gaucher disease has a higher incidence (~1 in 850) than hematologic malignancies (~1 in 2,500).2
  • In patients of Ashkenazi Jewish ancestry, ~1 in 15 is a carrier.5
  • Despite the high frequency of Gaucher disease among patients of Ashkenazi Jewish ancestry, Gaucher disease type 1 is pan-ethnic.3
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.