• Divided into three categories by the absence of, presence of, or extent of neurological symptoms

  • Type 1: non-neuropathic

    • No effect on the central nervous system

    • 90% of all cases

  • Type 2: acute neuropathic​

    • Neurological issues due to the accumulation of glucocerebrosidase in the brain​

    • Occurs in newborns and infants and progresses quickly, often leading to death within 1-3 years

  • Type 3: chronic neuropathic

    • Neurological complications develop slowly

      • Patients often live until between their adolescence and 30s​

    • Severity is between Type 1 and Type 2, with Type 1 symptoms and some neurologic symptoms

• Affects about 6,000 people in the United States, many of whom have Ashkenazic Jewish ancestry

  • Type 1 Gaucher Disease is the most common genetic disorder in people with Ashkenazic Jewish ancestry, with an incidence as high as 1 in every 450 people​

    • As many as 1 in 10 people with Ashkenazic Jewish ancestry are carriers of the mutated gene

• Symptoms vary greatly depending on the type of Gaucher Disease

  • Enlarged liver/spleen​

  • Bone pain and weakness

  • Anemia and fatigue

  • Bleeding and bruising issues

  • Thrombocytopenia

  • Skeletal abnormalities

  • Neurological complications

  • Mental deterioration

  • More!

• Treatments aim to improve quality of life for patients and differ based on the type of Gaucher Disease the patient is affected wit

  • There are currently 3 FDA-approved Enzyme Replacement Therapies (ERTs) and 2 FDA-approved Substrate Reduction Therapies (SRTs)​

    • ​Type 1: often treated with an ERT given every 2 weeks via IV infusions or with an SRT administered as a daily tablet/capsule​

    • Type 2: not considered treatable due to the early, rapid, and irreversible brain damage that occurs

    • Type 3: may be treated with an ERT

 
Sources

NORD

National Gaucher Foundation

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