Background Enzyme Replacement Therapy (ERT) is the current standard treatment which significantly improves the quality of life of patients with type-1 Gaucher’s Disease (GD-1).
Purpose To evaluate the use of ERT in patients with GD-1.
Material and methods Retrospective observational study with review of the patient’s clinical history. Adult patients were included with GD-1 treated with imiglucerase or velaglucerase. ERT response based on: haemoglobin (≥11–12 g/dl), platelets (≥120 × 109/L), chitotriosidase (<600 nmol/mL h), liver volume (<1.25 times normal), spleen volume (<5 times normal) and bone pain (none/mild/moderate/severe). The type of response was established according to compliance with these criteria: OR optimal response (5/6), SR suboptimal response (3–4/6) and none ≤2. Detection of Adverse Drug Events (ADEs).
Results We included 3 patients (2 treated with imiglucerase and 1 with velaglucerase). Previously with thrombocytopenia and/or anaemia, hepato-splenomegaly and associated bone pathologies. They started treatment with imiglucerase and velaglucerase at equal dosage 60 IU/kg/2 weeks with reductions of up to 25% or 15 IU/kg. Median follow-up time: 7 years. We currently have 2 patients with ERT, 2 changed to substrate reduction treatment with miglustat but 1 patient returned to ERT therapy due to intolerance. All patients met the haematological criteria and maintained the following averages over time: Hb 14.7 (13.2–15.8), platelets 207 (174–312), optimal levels of chitotriosidase and reduction of hepatic and splenic volumes. Bone pain was not resolved in all patients with associated bone pathologies (1 patient with an episode of generalised bone pain). Clinical Response: OR all 3 patients met 5/6 criteria. Similar safety profile and very well tolerated without unexpected adverse events. ADEs: 1 velaglucerase (rash and diarrhoea resolved) and 1 patient with imiglucerase (infusion-related warmth). We prepare infusion solutions in the pharmacy, optimising the use of vials of imiglucerase by arranging appointments for 2 patients on the same day.
Conclusion In patients studied with GD-1, ERT was shown to be effective and safe. Imiglucerase and velaglucerase presented similar responses and maintained optimal blood levels and liver-spleen volume, with improvements in the quality of life in these patients. Patients reached and maintained the OR with good tolerance. Communication between the medical and pharmaceutical professionals is essential for appropriate dose adjustment and optimisation of the vials.
References and/or acknowledgements No conflict of interest.
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