SACROSIDASE THERAPY FOR CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY (CSID)

Abstract

3 The purpose of this study was to determine if sacrosidase, a liquid produced from Saccharomyces Cerevisiae containing 6,000 IU of sucrase activity per mg protein, prevented symptoms of diarrhea, abdominal cramps, gas, and bloating in patients with CSID consuming a normal sucrose and carbohydrate - containing diet. Methods: 28 children (age 5 months - 11 years) underwent a randomized, double-blind, trial consisting of two phases; 1) 3 sucrose breath H2 tests with 3 single-dose treatments (placebo, sacrosidase, and sacrosidase plus milk), and 2) a dose-response phase consisting of 4 multi-dose treatment periods, each for 10 days of full strength sacrosidase, 1:10 dilution, 1:100 dilution, 1:1000 dilution. Patients ≤ 15 kg received a dose of 1.0 ml sacrosidase and those > 15 kg received 2 ml. During the dose-response phase each patient consumed a normal diet. The number of stools and severity of symptoms were recorded daily for each concentration of sacrosidase administered and compared to a baseline period during which the patient took no sacrosidase and consumed a sucrose/starch-free diet. Data were analyzed using an ANOVA model and the non-parametric Wilcoxon signed-rank test. Results: Breath H2 excretion decreased significantly when patients received sacrosidase or sacrosidase plus milk compared to placebo during sucrose breath tests. In the dose-response phase significant treatment differences were observed between the two higher concentrations and the two lower concentrations of sacrosidase for both total stools (p. <.001) and total symptom score (p=.003). Higher concentrations of sacrosidase were associated with fever stools and a greater number of formed or hard stools compared to lower concentrations and compared to the baseline period. Higher concentrations were also associated with fever symptoms of gas, abdominal cramps, or bloating, but no differences in vomiting. The only significant adverse event was wheezing in one child with a history of asthma. Conclusions: Sacrosidase is a safe effective, well accepted treatment to prevent gastrointestinal symptoms in patients with CSID consuming a normal diet.