Recombinant Macrophage Targeted Enzyme Replacement Therapy for Gaucher Disease in India.
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Date
2011-10
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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 x 109/L (-98.5 x 109 to 145.5
x109) /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.
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Keywords
Children, Imiglucerase, Gaucher disease, India, Lysosomal storage disorder, Treatment
Citation
Nagral A, Mewawalla P, Jagadeesh S, Kabra M, Phadke S R, Verma I C, Puri R D, Gupta N, Kishnani P S, Mistry P K. Recombinant Macrophage Targeted Enzyme Replacement Therapy for Gaucher Disease in India. Indian Pediatrics. 2011 October; 48(10): 779-784.