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Blood, 1 September 2004, Vol. 104, No. 5, pp. 1253-1257. Prepublished online as a Blood First Edition Paper on March 9, 2004; DOI 10.1182/blood-2003-11-3854.
Submitted November 25, 2003
Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH, USA * Corresponding author; email: richard.wenstrup{at}cchmc.org.
Symptomatic patients with Gaucher disease (GD) [acid
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| Copyright © 2004 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||
-glucosidase (GCase) deficiency] are treated with injectable forms of the human enzyme. Treatment results in significant decreases in lipid storage in liver, spleen, and bone marrow, but the generalized osteopenia and focal bone lesions present in many adult patients are refractory to treatment. A double blind, two-arm placebo controlled trial of alendronate (40 mg/day) was performed in adults with GD who had been treated with enzyme for at least 24 months. Primary therapeutic endpoints were improvements in 1) bone mineral density (BMD) and content (BMC) at the lumbar spine and 2) focal lesions in X-rays of long bones assessed by a blinded reviewer. Thirty-four patients with GD type 1 (18-50 yrs.) receiving enzyme therapy were randomized. After 18 months, 
BMD at the lumbar spine was 0.068 ± 0.21 and 0.015 ±0.034 for alendronate and placebo groups respectively (p= 0.001). Long bone X-rays showed no change in focal lesions or bone deformities in any subject in either arm. Alendronate is a useful adjunctive therapy in combination with ERT for the treatment of GD related osteopenia in adults, but it cannot be expected to improve focal lesions.
