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.
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Fabry Disease: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Safety, Efficacy, and Pharmacokinetics of Agalsidase Alfa in Treatment-Naive Chinese Patients with Fabry Disease: 52-Week Phase 3, Open-Label, Single-Arm Study
Adis Journals on behalf of: et al., Figshare (16 October 2026)
https://doi.org/10.6084/m9.figshare.32627880
- 2.
Kidney Transplantation in Patients with Fabry Disease—A Case Series from a Single Romanian Center
Elena Emanuela Rusu et al., Preprints.org (15 October 2026)
https://doi.org/10.20944/preprints202610.1470.v1
- 3.
Dysregulated phosphatidylglycerol metabolism in dorsal root ganglia contributes to pain hypersensitivity in a mouse model of Fabry disease.
Lian Nan et al., Neurobiology of disease (15 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42697517/
- 4.
Epigenetic aging and autosomal methylation remodeling in Anderson-Fabry disease.
Aceto Mirella Aurora et al., Experimental gerontology (15 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42716235/
- 5.
Safety, Efficacy, and Pharmacokinetics of Agalsidase Alfa in Treatment-Naive Chinese Patients with Fabry Disease: 52-Week Phase 3, Open-Label, Single-Arm Study.
Ren Hong et al., Advances in therapy (15 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42879111/
Clinical Trials : Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease
NCT04020055 · Active (not recruiting) · Phase 3 · Amicus Therapeutics
Ages 18 and over
https://clinicaltrials.gov/study/NCT04020055
- 2.
4D-310 in Adults With Fabry Disease and Cardiac Involvement
NCT05629559 · Recruiting · Phase 1 / Phase 2 · 4D Molecular Therapeutics
Ages 18 to 65
https://clinicaltrials.gov/study/NCT05629559
- 3.
A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease
NCT05206773 · Active (not recruiting) · Phase 3 · Sanofi
Ages 16 and over
https://clinicaltrials.gov/study/NCT05206773
- 4.
Arrhythmia Burden, Risk of Sudden Cardiac Death and Stroke in Patients With Fabry Disease
NCT03305250 · Active (not recruiting) · University Hospital Birmingham NHS Foundation Trust
Ages 18 and over
https://clinicaltrials.gov/study/NCT03305250
- 5.
Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR)
NCT04046224 · Completed · Phase 1 / Phase 2 · Sangamo Therapeutics
Ages 18 and over
https://clinicaltrials.gov/study/NCT04046224
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.
Fabry Disease
Fabry disease is a rare genetic condition where a missing enzyme causes a fatty substance to build up in blood vessel walls, damaging the heart, kidneys, and nervous system over time. It often goes undiagnosed for many years. Enzyme replacement therapy and chaperone therapy are available treatments.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
The above Graphical Abstract represents the opinions of the authors. For a full list of declarations, including funding and author disclosure statements, and copyright information, please see the full text online (see “read the peer-reviewed publication” opposite).
Common Questions
What is Fabry Disease?
Fabry disease is a rare genetic condition where a missing enzyme causes a fatty substance to build up in blood vessel walls, damaging the heart, kidneys, and nervous system over time. It often goes undiagnosed for many years. Enzyme replacement therapy and chaperone therapy are available treatments.
How many clinical trials are available for Fabry Disease?
RareWays currently indexes 114 clinical trials for Fabry Disease, of which 12 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 Fabry 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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