Early intervention with (pr)Fabrazyme(R) key to preventing renal disease
TORONTO, June 14 /CNW/ - Results of a significant Fabry disease study
were published in the most recent edition of the Journal of the American
Society of Nephrology (JASN)(i). The 54-month phase III, open-label extension
study in Fabry disease demonstrated that early intervention with
(pr)Fabrazyme(R) (agalsidase beta) preserves renal function and stabilizes
renal disease progression in patients with this rare, genetic disease(ii).
"The publication of this study marks an important milestone for Fabry
disease," said Dr. Michael West, Head of the Division of Nephrology at the
QE II Hospital in Halifax, Nova Scotia, and Fabry disease expert. "Like many
treatments for rare diseases, long term data has been limited until this
point, due to the nature of the disease and the innovative class of the
therapy. This study clearly demonstrates the benefits of treatment earlier in
the course of the disease. In contrast patients who are treated too late are
more likely to progress to end-stage renal disease."
Fabry disease is a life-threatening, progressive inherited metabolic
disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A
(alpha-GAL A), which naturally clears the body of harmful fatty substances -
primarily globotriaoslyceramide (GL-3). Over time, GL-3 will accumulate to
such a degree that it compromises the cells of various tissues, including the
kidneys, heart, skin, brain, eventually leading to organ failure. Fabry
patients must often cope with significant pain and disability and typically
have shortened life spans, with the average life expectancy in the mid
The phase III extension study was undertaken to investigate the long-term
safety and efficacy of Fabrazyme. Full approval was received from Health
Canada for Fabrazyme 5mg and 35mg vial in 2004. Fabrazyme is an enzyme
replacement therapy which substitutes the missing or malfunctioning enzyme in
Fabry patients. Administered by an intravenous infusion of a recombinant human
form of alpha-GAL, Fabrazyme initiates the breakdown of GL-3 accumulation in
the cells allowing the body to rid itself of this excess buildup of harmful
fatty substances through the blood stream. Results of the initial 42 months of
the phase III extension study are already incorporated into the product
"The Phase III extension study demonstrates the benefits of long-term use
of Fabrazyme through sustained clearance of GL-3 and by limiting the
progression of renal disease," continued Dr. West. "Additionally, Fabrazyme is
essential for the long-term health of the renal system in these patients."
All 58 patients from the original randomized, double-blind, 20-week
placebo controlled trial entered an open-label extension trial in which they
received biweekly 1.0 mg/kg infusions of Fabrazyme for up to an additional 54
The study demonstrated that when administered at 1 mg/kg every other week
over the long-term, Fabrazyme stabilizes renal disease in patients with Fabry
disease. By month 54, all patients who underwent optional kidney biopsies
(n=8) maintained complete GL-3 clearance in renal capillary endothelial cells
and multiple cell types. Complete clearance of skin (31 of 36 patients tested)
and heart (six of eight patients tested) capillary endothelium was also
Six patients demonstrated renal disease progression during the course of
the study (between 36 and 54 months of treatment). These patients had common
clinical characteristics (age greater than 40 years, significant baseline
proteinuria greater than 2g/24hr, and greater than 50% glomerular sclerosis at
pre-treatment) which are important risk factors for disease progression. This
demonstrates the importance of initiating early treatment with Fabrazyme.
Another key finding is that long-term treatment also improves quality of
life and pain for patients with Fabry disease. Pain scores, as measured by the
McGill Pain Questionnaire, improved over time for those who reported pain at
pre-treatment. Among these patients, statistically significant improvements in
mean visual analog score were observed (p= 0.007) at month 54.
Adverse events were generally mild and unrelated to treatment. The most
common treatment-related adverse events were infusion-associated reactions,
which decreased over time.
Genzyme Corporation is a biotechnology and health care products company
that develops innovative products and services for major unmet medical needs.
Genzyme Canada Inc., located in Mississauga, Ontario, is the Canadian
affiliate of Genzyme Corp., headquartered in Cambridge, Massachusetts.
In addition to Fabrazyme, Genzyme markets several other products for rare
diseases. These include (pr)Cerezyme(R) (imiglucerase) for the treatment of
Type 1 and Type 3 Gaucher disease and (pr)Aldurazyme(R) (laronidase) for the
treatment of MPS I, and (pr)Myozyme(R) for the treatment of Pompe disease.
In 2000, Genzyme Corporation established The Fabry Registry for the
medical community to understand the disease and monitor its safety and
efficacy for patients.
(i) Germain D., Waldex S., et al. Sustained, Long-term Renal
Stabilization After 54 Months of Agalsidase Beta Therapy in Patients
with Fabry Disease. J Am Soc. Neph 18. 2007
For further information:
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