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Two Decades of Experience from the Fabry Outcome Survey
Two Decades of Experience from the Fabry Outcome Survey
The Fabry Outcome Survey (FOS), funded by Takeda, was a global disease registry that collected valuable data on patients with Fabry disease from 2001 until its closure in September 2022. During these 21 years, FOS collected data from 4,480 patients across 24 countries, providing insights into the clinical symptoms, natural progression, and treatment outcomes of Fabry disease. This data has informed patient care, guidelines, and over 61 scientific publications. 1
FOS has significantly advanced understanding of Fabry disease, confirming its progressive, multi-system nature. It has shown that hearing loss is common and worsens over time, renal outcomes have improved with treatment, and cardiac disease is now the leading cause of mortality. 2-3 Ocular and dermatological signs are frequent and can aid early diagnosis, while the presence of angiokeratomas may indicate more severe systemic involvement. 4-5
Crucially, FOS also demonstrated that females can experience significant organ involvement, challenging the notion of a milder disease course in women as well as providing insights on common symptoms of Fabry Disease in children and their impact on quality of life. 6-7
In June 2025, a manuscript titled “Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy” was published. 8
This study examines the effects of agalsidase alfa treatment on renal and cardiac outcomes, as well as morbidity and mortality, in FOS participants compared to untreated external Fabry disease cohorts.
Dr. Uma Ramaswami, the lead author of this manuscript, discusses the findings and shares two real-life case studies on patient outcomes with long-term agalsidase alfa therapy in the video below.
Brightcove Video
References:
1. Beck M et al. Twenty years of the Fabry Outcome Survey (FOS): Insights, Achievements, and lessons learned from a global patient registry. Orphanet Journal of Rare Diseases (2022) 17:238. https://doi.org/10.1186/s13023-022-02392-9
2. Hegemann S et al. Hearing loss in Fabry disease: data from the Fabry Outcome Survey. Eur J Clin Invest. 2006 Sep; 36(9):654-62. DOI: 10.1111/j.1365-2362.2006.01702x. https://pubmed.ncbi.nlm.nih.gov/16919049/
3. A Mehta et al. Natural Course of Fabry Disease: changing pattern of causes of death in FOS-Fabry Outcome Survey.J Med Genet. 2009 Aug; 46 (8):548-52. DOI:10.1136/jmg.2008.065904. https://pubmed.ncbi.nlm.nih.gov/19473999/
4. Sodi A et al. Ocular Manifestations of Fabry’s disease: data from the Fabry Outcome Survey. Br J Opthalmol. 2007 Feb;91 (2):210-4. DOI: 10.1136/bjo.2006.100602. https://pubmed.ncbi.nlm.nih.gov/16973664/
5. Orteu et al. Fabry Disease and the skin: data from FOS, the Fabry Outcome Survey. Br J Dermatol. 2007 Aug; 157 (2): 331-7. Doi: 10.1111/j.1365-2133.2007.08002.x. https://pubmed.ncbi.nlm.nih.gov/17573884/
6. Ramaswami U, et al. Clinical manifestations of Fabry Disease in children: data from the Fabry Outcome Survey. Act Paediatr. 2006 Jan;95(1):86-92. Doi: 10.1080/080352500275022. https://pubmed.ncbi.nlm.nih.gov/16498740/
7. Deegan PB et al. Natural history of Fabry Disease in Females in the Fabry Outcome Survey. J Med Genet. 2006 Apr; 43(4):347-52. Doi:10.1136/jmg.2005.036327. https://pubmed.ncbi.nlm.nih.gov/16227523/
8. Ramaswami, U., et al. (2025). Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy. Molecular Genetics and Metabolism Reports, 43, 101215. https://doi.org/10.1016/j.ymgmr.2025.101215
