ALENDRONATE DISODIUM IN PEDIATRIC GAUCHER DISEASE

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 这项研究的目的是确定在大多数高谢病儿童中观察到的骨量减少和生长迟缓是否可以通过在现有的酶替代疗法的基础上加用福善美来纠正。 为此，将对接受过Cerezyme常规酶疗法至少18个月的高谢病儿童进行阿伦磷酸钠的双盲、双臂对照试验。这项研究将在最初三周的单盲试验期内进行，以评估依从性，之后将进行1：1的药物：安慰剂随机化。在18个月的双盲安慰剂阶段结束时，将有12个月的开放标签延期，以评估长期的安全性和有效性。正在接受酶疗法的90名年龄在6岁到18岁之间的患者将被随机分成两组，分别接受阿伦磷酸钠或安慰剂治疗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通过在进入研究时进行测量来评估，并在18个月和30个月之间每隔6个月进行一次测量。还将评估骨骼成熟、性成熟和对儿科生活质量问卷的反应。这些研究的成功结果可能导致控制或逆转儿童骨量减少的高谢病的新治疗方案，并可能导致对儿童和成人高谢病进行更有效的预防干预。

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.