Jump to:
Think Fabrazyme first for females with Fabry: Start with trusted therapy today1
Females with Fabry have been historically undertreated2,3
.svg)
In a multi-center analysis of 224 females with Fabry disease, 34% of women were untreated even though they met criteria for treatment initiation
In a multi-center analysis of 224 females with Fabry disease, Lenders et al. 2016.4
- In the same study of 224 women with Fabry disease, women with higher lyso-GL-3 levels reported a higher frequency of Fabry-related pain despite being ~ 8 years younger than older females with normal lyso-GL-3 levels
- Mapping disease progression over time can help you identify a decline in organ function
.svg)
Only 47% of females with CKD stage 3 or greater were on ERT compared with 88% of males
Data come from a retrospective analysis of 1077 females with Fabry disease in the Fabry Registry5,a
CKD=chronic kidney disease.
aData as of January 2007 including 1077 women enrolled in the Fabry Registry.
Females with Fabry disease are not just “carriers”6
How a mosaic develops with X-inactivation7
X-inactivation can lead to females with Fabry having a range of symptoms.8
- Females who do not present with classical early signs still might be at risk for severe complications in specific organ systems8
- Females can have normal levels of α-GAL A in plasma and leukocytes, and still present with clinical manifestations due to random X-inactivation in tissues8
Females with Fabry can suffer from life-altering symptoms
Females with Fabry have higher occurrence of serious complications than females in the general population5:
.svg)
End-stage renal disease5,9
.svg)
White matter lesions10,11
.svg)
Stroke/transient ischemic attack12,13
.svg)
Left ventricular hypertrophy14,15
In the Fabry Registry, ~70% of females reported having signs and symptoms.5,a
.svg)
45% have abdominal pain16
.svg)
43% have neuropathic pain5
.svg)
39% have diarrhea16
.svg)
39% have proteinuria5
(≥300 mg/day)
aData as of January 2007, including 1077 women enrolled in the Fabry Registry.
Neuropathic pain could be a red flag suggesting underlying organ damage.16
Fabry is progressive, and ERT should be considered upon early signs of disease in females17,18
- Don’t wait until she’s had her first stroke or has severe CKD
- When you map disease progression over time and see decline in organ function, start Fabrazyme for appropriate patients
Think Fabrazyme first, think decreased occurrence of severe clinical events in female patients1
Occurrence of severe clinical events (death, stroke, renal, and cardiac events) in female patients with Fabry disease decreased after the first 6 months of treatment with Fabrazyme1
Incidence of clinical events in female patients treated with Fabrazyme
- Overall, 14% of the 403 females in the study experienced a total of 57 events within 5 years of Fabrazyme initiation
- Highest incidence rate of events seen in the first 6 months of treatment
- Rates decreased with longer exposure to Fabrazyme and stabilized over time
- Cardiac and renal events were the most common, followed by stroke and death
| Females (n=403) | 0-0.5 Year on Agalsidase Beta | >0.5-1 Year on Agalsidase Beta | >1-5 Years on Agalsidase Beta |
| Severe Events, n | 17 | 7 | 3 |
| Incidence Rate per 1000 Patient Years (95% CI) | 91 (53-145) | 43 (17-88) | 49 (34-68) |
Adapted from Ortiz A et al. 2016.1
For context, in a study on the natural history of Fabry disease prior to the initiation of ERT, in a population of 168 females, 35% (n=59) experienced cardiac events and 12% (n=20) experienced a cerebrovascular event over a median of 12 years.19
%20(1).png)
Marie, a real Fabrazyme patient for over 20 years
“I’ve learned it's very important as a woman to take care of yourself first. I know that goes against our instincts as mothers, but if you aren't well, it's a lot harder to take care of your family.”
Indication
References: 1. Ortiz A et al. J Med Genet. 2016;53(7):495-502. 2. Germain DP et al. Mol Genet Metab. 2019;126(3):224-235. 3. Wanner C et al. ESC Heart Failure. 2020;7:825-834. 4. Lenders M et al. Orphanet J Rare Dis. 2016; 11:88:1-11. 5. Wilcox WR. Mol Genet Metab. 2008;93(2):112-128. 6. Germain DP. Orphanet J Rare Dis. 2010;5:30. 7. Willard HF. The sex chromosomes and X chromosome inactivation. In: Valle D, Beaudet AL, Vogelstein B, et al, eds. The Online Metabolic and Molecular Bases of Inherited Disease; McGraw Hill; 2014. 8. Guffon N. J Med Genet. 2003;40(4):e38. 9. 2017 USRDS Annual Data Report. United States Renal Data System website. https://usrds. org/annual-data-report/previousadrs. Accessed June 2022. 10. Fellgiebel A. Lancet Neurol. 2006;5(9):791-795 11. Burlina A. J Inborn Error Metab Screen. 2016;4:1-7. 12. MacDermot KD et al. J Med Gen. 2001;38(11):769-775. 13. Benjamin EJ et al. Circulation. 2017;135(10):e146-e603. 14. Linhart A et al; European FOS Investigators. Eur Heart J. 2007;28(10):1228-1235. 15. Schirmer H. Eur Heart J. 1999;20(6):429-438. 16. Wilcox WR et al. Mol Genet Metab. 2018;28:45-51. 17. Biegstraaten M et al. Orphanet J Rare Dis. 2015;10:36. 18. Ortiz A et al. Mol Genet Metab. 2018;123(4):416-427. 19. Schiffman R et al. Nephrol Dial Transplant. 2009;24(7):2102–2111.
