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Low-dose high-frequency enzyme replacement therapy for very young children with severe Gaucher disease
A Zimran1, I Hadas-Halpern, S Zevin
1Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Centre, Jerusalem, Israel.
Insights
Low-dose, high-frequency enzyme replacement therapy (ERT) effectively treats severe Gaucher disease in young children. This approach offers a feasible alternative to high-dose, low-frequency ERT, showing satisfactory results and unique clinical benefits.
Area of Science:
- Pediatric Hematology
- Lysosomal Storage Diseases
- Enzyme Replacement Therapy
Background:
- Gaucher disease is a rare genetic disorder.
- Severe Gaucher disease in children requires effective treatment.
- Previous enzyme replacement therapy (ERT) protocols used high doses infrequently.
Purpose of the Study:
- To evaluate the efficacy and feasibility of a low-dose, high-frequency ERT protocol for severe Gaucher disease in young children.
- To assess clinical responses, including organomegaly, hematological parameters, and potential unique benefits.
Main Methods:
- Six children with severe Gaucher disease (mean age 4.6 years) received intravenous Ceredase (Genzyme) at low doses frequently for 10-24 months.
- Measures to manage treatment burden included venous access devices, home treatment, and local anesthesia.
Main Results:
- Treatment demonstrated satisfactory results comparable to high-dose, low-frequency protocols.
- Observed regression of organomegaly and improvement in hematological abnormalities.
- Unique responses included reduced bacterial infections with improved neutrophil chemotaxis in two patients and neurological improvement in one patient with Type 3 Gaucher disease.
Conclusions:
- Low-dose, high-frequency ERT is an effective and feasible treatment for severe Gaucher disease in very young children.
- This protocol offers a viable alternative to high-dose, low-frequency regimens.
- Potential benefits extend beyond traditional markers to include immune function and neurological aspects.
Abstract:
Six children with a mean age of 4.6 years (range 2.5-7), suffering from severe Gaucher disease, were treated with low-dose high-frequency intravenous enzyme replacement (Ceredase, Genzyme, U.S.A.) for a period of 10-24 months. Although, in general, these patients were more severely affected than previously reported patients, the results of the treatment were as satisfactory as those obtained by using much higher doses at low frequency. In addition to regression of organomegaly and improvement of haematological abnormalities, we observed two unique clinical responses in three patients: two showed decreased tendency to bacterial infections, associated with improvement in neutrophil chemotaxis, and one patient, with type 3 Gaucher disease, showed some improvement in neurological findings. Several measures were taken to ameliorate the burden of the high-frequency treatment. These included implantation of venous access devices, establishment of a home-treatment programme and the application of effective local anaesthesia. Therefore the low-dose high-frequency protocol appears to be both an effective and feasible alternative to the costly high-dose low-frequency protocols even in very young children.