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Meet five fellow Pompe patients as they recount their own experiences with the diagnostic journey. You are sure to find bits of your own story in theirs. The road to diagnosis can be riddled with uncertainty, an array of specialists all looking for an answer, and even misdiagnosis. That is undoubtedly why many people living with Pompe welcome the moment a physician delivers the correct diagnosis. Finally, an answer; a name for what has been happening all these years.

The Path to Myozyme Beginning in the 1960s and fueled by the biotechnology revolution in 1980s, researchers at academic centers around the world initiated work to identify a treatment for Pompe - including therapies that could replace the missing GAA enzyme in patients. Based on these early efforts, from 1998-2002 Genzyme worked to advance promising research involving four different drug candidates to treat Pompe:

start at 4:00 human genome project translation target rare diseases with gene therapy: 1)Leber's congenital amaurosis- blindness 2) congenitaal AADC deficiency- enzyme responsible for movement 3)  Muscular Dystrophy- Pompe Disease

LUMIZYME® (alglucosidase alfa) is an enzyme replacement therapy for patients with Pompe disease (acid α-glucosidase (GAA) deficiency).