Diffusion tensor imaging of vertebral bone marrow in children with Gaucher's disease type I and III: Pre- and post-therapy.

PURPOSE: To assess diffusion tensor imaging (DTI) of the vertebral bone marrow (BM) in children with Gaucher's disease (GD) types I and III before and after therapy. METHODS: Prospective study was conducted upon 25 children with GD type I (n = 17) and III (n = 8) and 13 age and sex-matched controls underwent DTI of vertebral BM. Mean diffusivity (MD) and fractional anisotropy (FA) of vertebral BM was calculated and correlated with genotyping, chitotriosidase, hemoglobin (HB) and, platelet count. RESULTS: There was a statistically significant difference in MD and FA of BM between patients and controls (P = 0.001 and 0.02). The area under the curve (AUC) of MD and FA used to differentiate untreated patients from controls was 0.902 and 0.68 with sensitivity, specificity, and, accuracy 92%, 84.6%, and, 89.5% respectively. There was a significant difference in MD and FA of BM between untreated and treated patients (P = 0.001 and 0.02). AUC of MD and FA used to differentiate untreated from treated patients was 0.93 and 0.649 with sensitivity, specificity, and accuracy of 92%, 80%, and 86% respectively. There was a significant difference in MD and FA (P = 0.03, 0.001 respectively) of BM in GD with homozygous L444P mutation (n = 9) and other mutations (n = 14). Chiotriptase, HB and platelet count of patients was correlated with MD (r = -0.36, 0.42, -0.41) and FA (r = -0.47, -0.37, -0.46) respectively. CONCLUSION: DTI of vertebral BM can help in diagnosis and monitoring patients with GD after therapy and correlated with genotyping, and hematological biomarkers of GD.

A multicenter, open-label, phase III study of Abcertin in Gaucher disease.

BACKGROUND: Gaucher disease (GD) is caused by a deficiency in the lysosomal enzyme glucocerebrosidase. Enzyme replacement therapy (ERT) is recommended for clinical improvement. METHODS: The efficacy and safety of a new imiglucerase, Abcertin, were assessed in 7 Egyptian patients with treatment-naïve type 1 GD. Each patient was administered a biweekly 60 U/kg dose of Abcertin for 6 months. The primary endpoint was the change in hemoglobin concentration. The secondary endpoints were changes from baseline in platelet counts, spleen and liver volumes, biomarker levels, skeletal parameters, and bone mineral density. RESULTS: The hemoglobin concentration increased by a mean of 1.96 ±â€Š0.91 g/dL (range 1.11-2.80 g/dL) or 20.6% (P = .001). Statistically significant increases in the platelet count and decreases in the spleen volume and biomarker levels were also observed. There were no severe drug-related adverse events. One patient developed anti-imiglucerase antibodies without neutralizing activity. CONCLUSION: Our study results demonstrate the efficacy and safety of Abcertin in patients with type 1 GD. This suggests that Abcertin can be an alternative ERT option for type 1 GD.