ALENDRONATE DISODIUM IN PEDIATRIC GAUCHER DISEASE

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。本研究的目的是确定在大多数戈谢病儿童中观察到的骨质减少和生长迟缓是否可以通过在现有的酶替代治疗中添加福善美¿来纠正。为此，一项双盲、双臂对照试验将在接受至少18个月常规酶治疗的戈谢病儿童中进行。本研究将进行为期三周的单盲试验，以评估依从性，之后将进行1:1的药物：安慰剂随机化。在18个月的双盲安慰剂期结束时，将进行12个月的开放标签延长，以评估长期安全性和有效性。90名年龄在6至18岁之间接受酶治疗的患者将被随机分配接受阿仑膦酸钠或安慰剂治疗18个月。治疗结果将主要通过测量腰椎和全身的骨密度来监测。体重和身高的变化将在进入研究时进行评估，每隔6个月进行一次，持续18个月，每隔30个月进行一次。骨骼成熟、性成熟和对儿童生活质量问卷的反应也将被评估。这些研究的成功结果可能会导致新的戈谢病治疗方案，控制或逆转儿童骨质减少，并可能导致对儿童和成人戈谢病更有效的预防干预措施

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The purpose of this study is to determine whether osteopenia and growth retardation observed in most children with Gaucher disease can be corrected by the addition of Fosamax¿ to the existing enzyme replacement therapy. To do so, a double blind, two-arm controlled trial of alendronate will be conducted on children with Gaucher disease who have received at least 18 months of regular enzyme therapy with Cerezyme. This study will be conducted with an initial three week single blind trial period to evaluate compliance, after which a 1:1 drug:placebo randomization will occur. At the end of the 18 month double blind placebo phase, there will be a 12 month open label extension to evaluate longer-term safety and efficacy. Ninety patients between 6 and 18 years of age who are receiving enzyme therapy will be randomized to receive alendronate or placebo for 18 months. Therapeutic outcome will primarily be monitored by measurement of bone density at the lumbar spine and total body. Changes in weight and height will be assessed with measurements being taken at the time of entry into the study and at 6 month intervals for 18 months and again at 30 months. Skeletal maturation, sexual maturity and responses to a pediatric quality of life questionnaire will also be evaluated. The successful outcome of these studies may lead to new therapeutic regimens for Gaucher disease that control or reverse osteopenia in children, and may lead to more effective preventive interventions for the pediatric and adult Gaucher bone disease