RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.

Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.

Updates are delayed or unverified. Check original sources for the latest information.

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ICD E75.2ORPHA:355GD

Gaucher Disease

Gaucher disease is a genetic condition where a fatty substance builds up in cells and organs due to a missing enzyme. It can cause an enlarged spleen and liver, bone pain, and fatigue. Enzyme replacement therapy is effective and well established.

This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.

723
Articles
91
Trials (6 AU)
Data refreshed
19 October 2026
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Common Questions

What is Gaucher Disease?

Gaucher disease is a genetic condition where a fatty substance builds up in cells and organs due to a missing enzyme. It can cause an enlarged spleen and liver, bone pain, and fatigue. Enzyme replacement therapy is effective and well established.

How many clinical trials are available for Gaucher Disease?

RareWays currently indexes 91 clinical trials for Gaucher Disease, of which 5 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.

Where does the research data for Gaucher Disease come from?

RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.

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This information is for general awareness only.

For guidance specific to your situation, please speak with your healthcare team.