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[Enzyme replacement therapy in type 1 Gaucher's disease]
M C Aggio1, V Fernández, M Marcilese
1Servicio de Hematología y Hemoterapia, Hospital Dr. José Penna, Bahía Blanca, Argentina.
Medicina
|January 1, 1994
Summary
Enzyme replacement therapy using glucocerebrosidase (GC) effectively treats Gaucher disease type 1 in pediatric patients. Treatment improved hemoglobin, reduced liver size, and resolved bone pain, demonstrating good tolerance and clinical benefits.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Gaucher disease is a lysosomal storage disorder caused by glucocerebrosidase (GC) deficiency, leading to glucocerebroside accumulation.
- Type 1 Gaucher disease presents with hepatosplenomegaly, hypersplenism, and skeletal issues like osteopenia and fractures.
Observation:
- Two pediatric patients with type 1 Gaucher disease received mannose-terminated GC enzyme intravenously.
- Treatment involved infusions of 30-60 units/kg every two weeks for 8-18 months.
Findings:
- Patients showed increased hemoglobin and decreased serum acid phosphatase.
- Significant reduction in liver volume and disappearance of bone pain were observed in the most affected child.
- Overall, enzyme replacement therapy demonstrated good tolerance and objective clinical improvement in approximately 800 patients, with variable, dose-dependent responses.
Implications:
- Enzyme replacement therapy is a viable treatment for type 1 Gaucher disease, improving key clinical markers.
- Further research is needed to optimize dosing, treatment duration, and cost-benefit analysis for this enzyme therapy.
- While anti-GC antibodies can form, they do not appear to impact treatment efficacy or clinical outcomes.