Important Safety Information: Contraindications: CERDELGA is contraindicated in the following patients based on CYP2D6 metabolizer status due to the risk of cardiac arrhythmias from prolongation of the PR, QTc, and/or QRS cardiac intervals: Extensive Metabolizers (EMs) taking a strong or moderate CYP2D6 inhibitor concomitantly with 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.