CPN | Gaucher Type 2

Gaucher Type 2

Gaucher disease type 2 is an inherited lysosomal storage (metabolic) disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Liver and spleen enlargement are often apparent by 3 months of age. Children typically develop extensive and progressive brain damage and many die by 2 years of age.[1] Gaucher disease type 2 is caused by mutations in the GBA gene. It is inherited in an autosomal recessive pattern.

[2] While enzyme replacement therapy is available and may help alleviate enlargement of the spleen and liver, it cannot cross the blood-brain barrier. There is still no effective treatment for the brain damage that typically occurs in children with this devastating condition.

Note: As science advances, we continue to experience a fast-evolving landscape of potential new therapies. The families portrayed here offer perspective on coping with rare and/or life-limiting conditions. They also each represent a particular moment in time.

If you are considering a clinical trial for your child, please also see the Courageous Parents Network Guided Pathway on Clinical Trials.

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