Clinical Trial Readiness for K channel inhibitors in Cantu Syndrome

项目总结 坎图综合征(CS)是一种罕见的遗传疾病，目前还没有直接的治疗方法。CS患者遭受 来自多种病理，但心血管并发症和神经学特征是主要关注因素。政务司司长 两个编码心血管三磷酸腺苷敏感(KATP)的特定基因的功能增益突变的结果 频道。FDA批准的这些通道的阻滞剂是潜在的治疗方法。在为临床试验做准备的过程中，这 该项目将在一个独特的CS队列中验证心血管和神经特征是否为疾病的标志 患者，并将在独特的CS和In动物模型中验证KATP通道抑制剂是合适的治疗方法 患者来源的细胞。该项目的成功完成将完成临床试验准备工作 建议的治疗方法。

PROJECT SUMMARY Cantu syndrome (CS) is a rare genetic condition for which there is currently no directed therapy. CS patients suffer from multiple pathologies, but cardiovascular complications, and neurological features are major concerns. CS results from gain-of-function mutations in two specific genes that encode cardiovascular ATP-sensitive (KATP) channels. FDA-approved blockers of these channels are potential treatments. In preparation for a clinical trial, this project will validate cardiovascular and neurological features as markers of disease in a unique cohort of CS patients, and will validate KATP channel inhibitors as appropriate therapy in unique animal models of CS and in patient-derived cells. Successful accomplishment of the project will complete clinical trial readiness for the proposed therapeutic approach.