There are ~8,000 total U.S. cases with a predominance in Ashkenazi Jews. Gaucher Disease is classified into 3 types according to neurological deterioration, age and progression rate:
Type 1: Most common; does not impact the Central Nervous System, and usually presents in adulthood with an enlarged liver, enlarged spleen, anemia, and bone disease
- 7,000 U.S. patients
- 5 therapies on the market with $1.6 billion in sales per year
Type 2: Exceedingly rare; involves the CNS, affects infants and is uniformly fatal by 2 years of age
- ~250 U.S. patients
- There are no therapies for Type 2 Gaucher Disease
Type 3: Begins at any time in childhood, involves the CNS, and is characterized by slowly progressive neurological deterioration and premature death
- 750-1,000 U.S. patients
- There are no therapies for Type 3 Gaucher Disease