| Mota, 2007 (33) |
Brazil |
18 children |
Patients were followed for up to 10 years (mean follow-up, 4 years and 4 months ± 3 years and 3 months). Bone changes were evaluated by plain radiographs in all patients. |
Clinical and radiological improvement was noted in 13 (72%) of 18 patients; bone lesions worsened in 5 (28%) of 18 patients. Final ERT dose was statistically different between those who improved versus those who worsened (55 ± 10 U/kg vs. 29 ± 2 U/kg; P < 0.03). |
Importance of ERT dose |
|
Drelichman, 200730. Drelichman G, Ponce E, Basack N, Freigeiro D, Aversa L, Graciela E, et al. Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease. J Pediatr. 2007;151(2):197-201. (31) |
Argentina |
5 children |
5 children had at least 1 year of ERT but therapy was discontinued for 1 to 3 years. These features were measured at baseline (immediately before initiating ERT), when ERT was withdrawn, when ERT was resumed, and at least 11 months after resuming ERT. |
Before ERT was interrupted - no radiological skeletal manifestations were present. 4 of the children interrupted on ERT had serious bone manifestations requiring hospitalization, immobilization, and analgesics; after 9-11 months of ERT re-initiated the radiological manifestations continued to persist. Suggesting 4 out of the 5 children whose ERT was interrupted had sustained irreversible skeletal damage and resulting disability. |
Implies prevention of bone problems with ERT in children and importance of continued use |
| Parisi, 2008 (62) |
Argentina |
9 adults |
Evaluated bone composition in GD1 patients receiving imiglucerase in a mean dose of 53 ± 13 IU/kg/2weeks, during 4.9 ± 3.9 years and compared with 145 sex and age matched healthy individuals |
GDI patients receiving the lower dose of ERT (<60 IU/kg/2weeks) presented lower BMD values than those receiving the higher dose (≥60 IU/kg/2weeks) (0.968 ± 0.032 vs. 1.088 ± 0.061 g/m2, respectively, p<0.001). |
Importance of ERT dose |
|
Sobreira, 200829. Sobreira EAP, Bruniera P. Avaliação de dois anos de tratamento da doença de Gaucher tipo 1 com terapia de reposição enzimática em pacientes do estado de São Paulo, Brasil. Rev Bras Hematol Hemoter. 2008;30(3):193-201. (29) |
Brazil |
41 children 71 patients |
Evaluated individuals with GD1 at baseline and after 24 months of mean dosage of imiglucerase 35 UI/kg/2 weeks |
From baseline to 18 months, the frequency in short stature was significantly reduced. Incidence of bone pain also progressively reduced from baseline to 18 months, reaching statistical significance as early as 6 months. |
ERT improved growth and bone pain |
| Lukina, 2014 (63) |
Multi-centered includes Argentina and Mexico |
19 adults |
Phase II Trial of Eliglustat - a substrate reduction therapy over 4 years in treatment naïve GD1 (18-56 yo) |
Mean bone mineral density T-score for the lumbar spine increased by 0.8 (60%) (baseline: −1.6 ± 1.1). Femur dark marrow, a reflection of Gaucher cell infiltration into bone marrow was reduced or stable in 17/18 patients. There were no bone crises. |
Improved lumbar spine T-score and BMI |
| Hughes, 2015 (64) |
Multi-centered includes Argentina and Paraguay |
57 patients |
Long-term data from velaglucerase alfa phase III clinical trial in a single extension study (aged 3-62) Measures reported over 24 months (extension plus Phase 3) |
Lumbar spine BMD Z-scores in adults improved by 24 months, no difference in mean Z-score changes in the femoral neck likely because most patients (>64%) at baseline were no more than 1 SD below peak bone density at the femoral neck, which is considered normal. |
Improved on lumbar spine z-score measure, but not on others |
| Mistry, 2015 (65) |
Multi-centered includes Colombia and Mexico |
40 patients |
Eliglustat (substrate reduction)-Phase 3, randomized, double-blind, placebo-controlled trial conducted at 18 sites in 12 countries. |
Eliglustat treatment resulted in a statistically significant improvement in mean total BMB score and there was no change in the placebo treatment group, P = 0.002. Other markers of bone disease, including BMD, showed no significant change. |
Improved BMB but not BMD |
| Cox, 2015 (66) |
Multi-centered includes Argentina and Brazil |
160 patients |
Phase 3, randomized, open label, non-inferiority trial of 106 Eliglustat versus 54 imiglucerase; Average age 37.6 yrs (14.2)* and 37.5 yrs (14.9)* |
Mean bone mineral density was in the normal range and maintained; mean bone marrow burden scores showed moderate infiltration of haemopoietic marrow and were also maintained |
BMD and BMB were within the normal range and were maintained |
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