[Alglucerase treatment of type I Gaucher's disease. Preliminary results in Spain. Spanish Group on Gaucher's Disease]

Author(s): Perez-Calvo JI, Giraldo P, Giralt M

Affiliation(s): Servicio de Medicina Interna B2 Hospital Clinico Universitario, Zaragoza. jiperez@posta.unizar.es

Publication date & source: 1997-06, Sangre (Barc)., 42(3):189-94.

Publication type: English Abstract; Research Support, Non-U.S. Gov't

AIM: To evaluate the efficacy of the treatment with alglucerase (Ceredase) in spanish patients diagnosed of Gaucher disease type 1 (GD). PATIENTS AND METHODS: A national inquiry has been performed among the hospitals with GD's patients on therapy. A form including pretherapy haemoglobin, platelet levels, liver and spleen size and bone lesions was submitted to the participating centers. A quarterly follow-up was requested. Descriptive statistics and frequency distribution analysis were performed through a Statview 4.02 database. RESULTS: Participating centers 22; evaluable patients 34. The mean age at diagnosis was 18.9 +/- 12.7 years, being the M/F ratio 0.47. Organomegaly was present in 88.2% and 70.5% had bone disease. Low haemoglobin levels (< 110 g/L) had detected in 48.6%, leucopenia (< 4.0 x 10(9)) were in 36.6% and low platelet level (< 15.0 x 10(9)) in 73.2%. The most frequent mutations observed were N370S (39.7% of the alleles detected), and L444P(20.4%). Time on therapy: between 6-12 months, 18 patients, > 1 year 16 patients, > 2 years 11 (5 reaching 3 years). Dosage schedulle:a) 10-20 U/Kg/week, 8 cases, b) 30-60 U/Kg/ two weeks, 26 cases. Eight patients were splenectomized before therapy. After one year on therapy haemoglobin and platelet levels become normal in 82.3% and 47.0% of patients respectively and the liver and spleen size were reduced 66 and 42%. There are not significant differences among weekly (8 patients) or forthnightly (26 patients) dosages except in the spleen size more reduced in the later group (43% vs 65%). Haemoglobin and platelet levels were similar among splenectomized or non-splenectomized patients, but the reduction of the liver size (80 vs 17%) was significatively greater in the former. One patient developed an asymptomatic antialglucerase antibody during the first month on therapy. CONCLUSIONS: The infusion of alglucerase is effective in the treatment of the GD type 1, with a significant reduction of organomegalies and a definite improvement in haemoglobin and platelet levels. The efficacy seems to be unrelated with the schedule employed or the splenic removal; nevertheless liver enlargement was more reduced in the splenectomized cases and the spleen size among the patients with the regimen of "high dose/low frequence". Bone healing requires a very long time therapy. The treatment is safe and the antibody production low.