Genzyme Corporation / Novazyme Pharmaceuticals Inc.

Pompe Disease (Glycogen Storage Disease Type II)

Disease Overview

Pompe disease is a rare, progressive lysosomal storage disorder caused by deficiency of acid alpha-glucosidase (GAA), leading to glycogen accumulation in muscle. Infantile-onset (IOPD) presents with cardiomyopathy, hypotonia, and respiratory failure with median untreated survival under one year; late-onset disease (LOPD) progresses more slowly with skeletal and respiratory muscle weakness.

Competitive Landscape

At the time of the 2001 Genzyme-Novazyme deal, no Pompe therapy was approved and natural history was uniformly fatal in IOPD. Genzyme was developing alglucosidase alfa with Pharming Group (Phase 2), Synpac was developing a CHO-derived rhGAA, and Novazyme had NZ-1001, a phosphorylated/mannose-6-phosphate-enhanced rhGAA designed by William Canfield for superior cellular uptake. Genzyme's $137.5M stock + $87.5M contingent acquisition consolidated the two leading IOPD programs and triggered a multi-year FTC review (closed 2004 without action). The integrated program produced Myozyme (alglucosidase alfa, FDA-approved 2006), followed by Lumizyme (LOPD, 2010). Today's competitive landscape includes Sanofi's Nexviazyme (avalglucosidase alfa, 2021) plus Amicus's Pombiliti + Opfolda (cipaglucosidase alfa + miglustat, 2023), with gene therapy programs (Astellas/AT845, Spark) advancing. Annual ERT cost averages ~$300,000 per patient. Without the Novazyme acquisition, the dominant ERT franchise in lysosomal storage disease — and the foundation of Sanofi's Rare Disease unit after the 2011 Genzyme buyout — likely would not exist in its current form. Source: https://amda-pompe.org/genzyme-to-acquire-novazyme-pharmaceuticals/