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As of august 2022, 125 patients (60% male) had a mean migalastat exposure of 3.9 years. The predominantly observational studies assess the effect of therapy in patient groups that vary in age, sex, disease phenotype, and disease severity at treatment initiation. Until a few years ago, treatment options for fabry disease were limited to enzyme replacement therapy with agalsidase alfa or beta administered by intravenous infusion every 2 weeks
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Migalastat (galafold ®) is an oral pharmacological chaperone that increases the enzyme activity of “amenable” mutations. Current treatments for fd have significantly improved the. Galafold is the world's first oral treatment for fabry disease, developed by amicus therapeutics and distributed in korea by handok
(courtesy of handok) because fabry disease is a progressive lysosomal storage disorder with symptoms often beginning in childhood, early diagnosis and treatment are critical for pediatric patients.
Patients with fd may exhibit early signs/symptoms including neuropathic pain, gastrointestinal complaints, and dermatologic manifestations Fd may ultimately progress to renal, neurologic, and cardiac dysfunction
