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REPLAGAL is the only human-cell-line-derived form of enzyme replacement therapy (ERT) that is indicated for the long-term treatment of patients with a confirmed diagnosis of Fabry disease (alfa-galactosidase A deficiency).

About Fabry disease

Fabry disease is a lysosomal storage disorder (LSD) that interferes with the body's ability to break down a specific fatty substance ( globotriaosylceramide or Gb3) which accumulates within the body due to deficiency of a specific enzyme (alfa-galactosidase A).

Fabry disease affects both males and females and can present with a number of signs or symptoms of variable degree, such as cardiovascular and/or renal dysfunction, intense or burning pain, heat intolerance, skin lesions, gastrointestinal complaints, hearing loss, and ocular problems.

Lifespan is typically reduced in patients with Fabry disease by approximately 20 years in men and 15 years in women, compared with the general population.1,2, The principal causes of death are renal failure, cardiomyopathy and cerebrovascular events (e.g. stroke).3

Fabry disease affects an estimated 8,000 to 10,000 people worldwide.

References

1. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001;38:769-75.

2. MacDermot KD, Holmes A, Miners AH. Natural history of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis 2001;24 Suppl 2:13-14.

3. Mehta A, Widmer U. Natural history of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006: p. 183-8.

Notes to editors

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