Phase 2 of CellCept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis

描述(由申请人提供)： JNCL是一种毁灭性的进行性神经系统疾病。JNCL儿童的首发症状通常发生在5至9岁之间，包括进行性视力障碍、癫痫发作、行动困难和痴呆症。科学家们仍在了解这种疾病是如何以及为什么发生的。虽然与JNCL相关的癫痫发作是可以治疗的，但不幸的是，目前还没有针对JNCL潜在原因的具体治疗方法。患有JNCL的儿童对部分脑细胞有抗体。在JNCL的动物模型中，研究表明，将产生抗体的能力降至最低可能会减缓疾病的进展。霉酚酸酯(CellCept)是FDA批准的一种预防儿童肾移植排斥反应的药物；它的作用是最大限度地减少抗体的形成，因此，它可能是JNCL的有效治疗方法。 一项为期22周的霉酚酸酯治疗儿童JNCL的研究被提出。每个孩子将接受8周的霉酚酸酯和8周的安慰剂，中间间隔4周的研究药物。调查人员将对每个儿童的治疗顺序视而不见(先用霉酚酸酯，再用安慰剂，或先用安慰剂，再用霉酚酸酯)。JNCL的体征和症状将在每八周研究期的开始和结束时进行评估。在评估期间，将密切监测儿童是否有潜在的药物副作用。主要目的是评估JNCL患者是否能够毫无困难地完成该药物的一个疗程，并检查短程霉酚酸酯对JNCL体征的影响，包括癫痫发作、行为、思维和运动功能。

DESCRIPTION (provided by applicant): JNCL is a devastating progressive neurologic disorder. Initial symptoms for children with JNCL typically occur between ages 5 and 9 years and include progressive impairment of vision, seizures, difficulty with movement, and dementia. Scientists are still learning about how and why this disorder occurs. Although the seizures associated with JNCL can be treated, unfortunately there are no specific treatments for the underlying cause of JNCL at this time. Children with JNCL have antibodies to parts of brain cells. In animal models of JNCL, studies have shown that minimizing the ability to make antibodies may lead to slowing of the progression of the disease. Mycophenolate (CellCept) is a medication approved by the FDA for prevention of kidney transplant rejection in children; it acts by minimizing the formation of antibodies and therefore, is potentially an effective treatment for JNCL. A 22 week study of mycophenolate in children with JNCL is proposed. Each child will receive eight weeks of mycophenolate, and eight weeks of placebo, separated by four weeks off study medication. Investigators will be blinded to the order of treatments for each child (mycophenolate followed by placebo, or placebo followed by mycophenolate). Signs and symptoms of JNCL will be evaluated at the beginning and end of each eight week study period. Between evaluations, children will be monitored closely for potential medication side effects. The main objective is to assess whether patients with JNCL are able to complete a course of this medication without difficulty and also examine the impact of a short course of mycophenolate on signs of JNCL, including seizures, behavior, thinking, and motor function.