Gaucher Disease — Research Summary
Printed from RareWays (rareways.com.au) on 11 June 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
White matter matters in β-glucocerebrosidase-related pathologies.
Russo Loris et al. — Neural regeneration research (1 June 2026)
https://pubmed.ncbi.nlm.nih.gov/41017710/
- 2.
Synthesis and biological profile of a novel 4-C-branched pyrrolidine-containing iminosugar.
Tvrdoňová Monika et al. — Bioorganic & medicinal chemistry letters (1 May 2026)
https://pubmed.ncbi.nlm.nih.gov/41571011/
- 3.
An improved Glucocerebrosidase Assay for Accurate Prediction of Lysosomal Dysfunction: Exemplified by Its Relevance in Parkinson's Disease.
Babu Aishwarya et al. — Indian journal of clinical biochemistry : IJCB (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41834923/
- 4.
Convergent molecular pathways to inherited Parkinson's disease.
Pfeffer Suzanne R — Current opinion in cell biology (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41719940/
- 5.
Pathological Protein Targets in Parkinson's Disease: Progress Towards the Development of Disease-Modifying Therapies.
Dzamko Nicolas — CNS drugs (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41703390/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED)
Recruiting — Phase 1 — Prevail Therapeutics
https://clinicaltrials.gov/study/NCT05487599
- 2.
International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry
Recruiting — Genzyme, a Sanofi Company
https://clinicaltrials.gov/study/NCT00358943
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
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.
Most Recent Research
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 128 clinical trials for Gaucher Disease, of which 20 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Gaucher Disease come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. 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.