FDA Expands Imiglucerase Approval for Type 3 Gaucher Disease
- The FDA has expanded the approved indication for imiglucerase (Cerezyme; Genzyme) to include the treatment of non-central nervous system (CNS) manifestations of Gaucher disease type 3 in adults...
- Gaucher disease is a genetic disorder due to mutations that result in reduced activity of the enzyme glucocerebrosidase (GCase), resulting in the accumulation of glucocerebroside in macrophages and...
- Imiglucerase is a recombinant human GCase that acts as an enzyme replacement therapy (ERT) with the intention of complementing the deficient GCase enzyme and decreasing substrate accumulation within...
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The FDA has expanded the approved indication for imiglucerase (Cerezyme; Genzyme) to include the treatment of non-central nervous system (CNS) manifestations of Gaucher disease type 3 in adults and pediatric patients. this regulatory milestone marks the first time any therapy has received FDA approval specifically for this indication,addressing a long-standing unmet need in this rare lysosomal storage disorder.1
Gaucher disease is a genetic disorder due to mutations that result in reduced activity of the enzyme glucocerebrosidase (GCase), resulting in the accumulation of glucocerebroside in macrophages and various systems. Even though type 1 Gaucher disease, the moast prevalent form, does not involve the CNS, type 3 Gaucher disease is characterized by slowly progressive neurological manifestations, along with the visceral, hematologic, and skeletal complications that are common to all types.1
Imiglucerase’s Mechanism and historical Context
Imiglucerase is a recombinant human GCase that acts as an enzyme replacement therapy (ERT) with the intention of complementing the deficient GCase enzyme and decreasing substrate accumulation within target cells. Initially approved by the FDA in 1994 for non-CNS manifestations of type 1 disease“`html
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https://gaucherdiseasenews.com/2026/01/20/cerezyme-becomes-1st-fda-approved-therapy-type-3-gaucher/
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here. Information on the International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry can be found on ClinicalTrials.gov under identifier NCT00358943. The registry was last updated January 6, 2026, and was accessed January 26, 2026.