Rinsho Shinkeigaku (Clinical Neurology)


Current status and future prospect of enzyme replacement therapy for Fabry disease

Toya Ohashi, M.D.1)2)

1)Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School for Medicine
2)Department of Pediatrics, The Jikei University School of Medicine

Fabry disease is characterized by deficient activity of α-galactosidase A, which results in accumulation of glycolipids, such as globotriaosylceremide, in various tissue. Clinical symptoms are varied. In childhood, pain in extremities, hypohidrosis, and angiokeratoma are main symptoms, In adulthood, renal, cardiac and cerebrovascular symptoms are occurred In past, only symptomatic treatments were available. In early 2000th, enzyme replacement therapy was developed after positive results of clinical trials. Ten years after approval, the data of long term safety and efficacy of enzyme replacement.
Full Text of this Article in Japanese PDF (447K)

(CLINICA NEUROL, 59: 335|338, 2019)
key words: Fabry disease, enzyme replacement therapy, agalsidase alpha, agalsidasse beta, pharmacological chaperon

(Received: 1-Nov-18)