Imiglucerase in Type 1 Gaucher Disease: Long-Term Clinical and Pharmacoeconomic Outcomes in Southwestern Algeria

Background: Gaucher disease (GD) is the most common lysosomal storage disorder, characterized by progressive hematological, visceral, and skeletal involvement. Enzyme replacement therapy (ERT) with imiglucerase has improved outcomes, but long-term effectiveness and economic burden data remain limited in North Africa.

Methods: We conducted a retrospective real-world case series at the Cancer Center of Béchar, Algeria. Four patients with genetically and enzymatically confirmed type 1 GD treated with imiglucerase were included. Clinical, biological, radiological, and therapeutic data were extracted from medical records. Outcomes were assessed using a composite Clinical Improvement Score (CIS) covering hematological, visceral, skeletal, and quality-of-life domains. Direct medical costs were analyzed from the perspective of the Algerian public healthcare system.

Results: The cohort included three males and one female (median age: 42.5 years). Consanguinity was present in 75%, and all patients had a positive family history. At baseline, all had hepatosplenomegaly; anemia (n=3), thrombocytopenia (n=2), and skeletal involvement (n=3) were frequent. Long-term ERT led to marked hematological improvement, reductions in organomegaly, and improved quality of life, while skeletal disease persisted, particularly in delayed-treatment cases and after splenectomy. Annual direct costs ranged from 23.7 to 31.4 million DZD (179,412–237,927 USD), with imiglucerase accounting for >95% of expenses. Higher costs were not associated with better outcomes; the highest-cost patient had the lowest CIS due to advanced disease and delayed therapy.

Conclusions: Long-term imiglucerase therapy provides significant clinical benefit in type 1 GD, especially for hematological and visceral manifestations. However, delayed treatment is associated with persistent skeletal disease and poorer response. The high cost of therapy represents a major burden, highlighting the need for early diagnosis and national rare disease strategies.