Abstract
Objective
Gaucher disease in India has been reported only in a few case reports from India. The aim of the study was to assess the response to enzyme replacement therapy in Indian patients with Gaucher disease.
Design
Retrospective analysis of patients receiving CHO-derived recombinant macrophage-targetted glucocorebrosidase.
Setting
Five centers from India with experience in treating lysosomal storage disorders.
Patients
The diagnosis of Gaucher disease was confirmed by low glucocerebrosidase levels, though it was first made on splenectomy in 8 and on bone marrow examination in 9 patients. Twenty five of 52 patients diagnosed with Gaucher disease (17 Type I, 8 mild Type III) received treatment for >6 months. Indications for treatment included symptomatic anemia, thrombocytopenia, organomegaly, bone disease or mild neurological symptoms leading to impairment of quality of life. Patients with significant neurological involvement were excluded. The drug infusions were given intravenously every 15 days.
Main Outcome measures
Hemoglobin, platelet counts, liver and spleen volumes and growth parameters
Results
22 of the 25 children who survived were analyzed. After 6 months of treatment, the mean (range) increase in hemoglobin was 1.5 (−3.4 to 6.1) g/dL (P=0.01) and in platelet count was 32 × 109/L (−98.5 × 109 to 145.5 ×109) /L (P=0.02). The mean (range) increase in weight was 3 kg (−5.6 to 10.5) (P=0.04) and in height was 7.1 cm (0 to 26.5) (P=0.0003). Liver size decreased by a mean (range) of 38.5% (− 5.5 to 86.7) (P=0.0003) and the spleen size by 34.8% (0 to 91.7) (P=0.004). All patients had improvement in bone pains and in 2 patients, neurological symptoms improved with others remaining static.
Conclusions
This is the first reported cohort of patients in India reporting our experience with imiglucerase enzyme replacement therapy for treatment of Gaucher Disease in India.
Similar content being viewed by others
References
Grabowski GA, Gatt S, Horowitz M. Acid beta-acid beta glucosidase: Enzymology and molecular biology of Gaucher disease. Crit Rev Biochem Mol Biol. 1990;25:385–414.
Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med. 2006;160:603–608.
Kauli R, Zaizov R, Lazar L, Pertzelan A, Laron Z, Galatzer A, et al. Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and/or enzyme replacement therapy. Isr Med Assoc J. 2000;2:158–163.
Grabowski GA, Andria G Baldellou A, Campbell PE, Charrow J, Cohen IJ, et al. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment: consensus statements. Eur J Pediatr. 2004;163:58–66.
Hopkin RJ, Grabowski GA. Lysosomal storage disease. In: Fauci AS, Braunwald E, Kasper DL, Hauser SL, Longo DL, Jameson JL, et al. (eds). Harrison’s Principles of Internal Medicine, 17th Edition:2008.
El-Beshlawy A, Ragab L, Youssry I, Yakout K, El-Kiki H, Eid K, et al. Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients. J Inherit Metab Dis. 2006;29:92–98.
Ginns EI, Erickson A, Tegelaers FP, Barneveld R, Reuser AJ, Brady RO, et al. Isozymes of beta-acid beta glucosidase: determination of Gaucher’s disease phenotypes. Isozymes Curr Top Biol Med Res. 1983;11:83–99.
Kasturi L, Amin AS. Enzyme replacement therapy in Gaucher disease. Indian Pediatr. 2001;38:686–688.
Kaur M, Kabra M, Kher A, Naik G, Bharucha BA, Verma IC. Clinical and enzyme studies in Gaucher disease. Indian Pediatr. 1996;33:735–738.
Feroze M, Arvindan KP, Jose L. Gaucher disease among Mappila Muslims of Malabar. Indian J Pathol Microbiol 1994;37:307–311.
Patel AL, Shaikh WA, Khobragade AK, Soni HG, Joshi AS, Sahasrabudhe GS, et al. Gaucher disease. J Assoc Phys India. 2009;57;410–411.
Burrow TA, Cohen MB, Bokulic R, Deutsch G, Choudhary A, Falcone RA Jr, et al. Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy. J Pediatr. 2007;150:202–226.
Grabowski GA, Barton NW, Pastores G. Dambrosia JM, Banerjee TK, McKee MA, et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannoseterminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med. 1995;122:33–39.
Tsai P, Lipton JM, Sahdev I, Najfeld V, Rankin LR, Slyper AH, et al. Allogenic bone marrow transplantation in severe Gaucher disease. Pediatr Res. 1992;31:503–507.
Hobbs JR, Jones KH, Shah PJ, Lindsay I, Hancock M. Beneficial effect of pre-transplant splenectomy on displacement bone marrow transplantation for Gaucher’s syndrome. Lancet. 1987;1:1111–1115.
Pastores GM, Sibille AR, Grabowski GA. Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. Blood. 1993;82:408–416.
Starzyk K, Richards S. Yee J, Smith SE, Kingma W. The long-term international safety experience of imiglucerase therapy for Gaucher disease. Mol Genet Metab. 2007;90:157–163.
Andersson H, Kaplan P, Kacena K, Yee J. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics. 2008;122;1182–1190.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Nagral, A., Mewawalla, P., Jagadeesh, S. et al. Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India. Indian Pediatr 48, 779–784 (2011). https://doi.org/10.1007/s13312-011-0128-4
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s13312-011-0128-4