Clinical Trial Readiness for K channel inhibitors in Cantu Syndrome

项目摘要 Cantu综合征（CS）是一种罕见的遗传性疾病，目前尚无针对性治疗。CS患者遭受 但心血管并发症和神经系统特征是主要问题。CS 由编码心血管ATP敏感性（KATP）的两个特定基因的功能获得性突变引起 渠道FDA批准的这些通道的阻断剂是潜在的治疗方法。为了准备临床试验， 该项目将在一个独特的CS队列中验证心血管和神经功能作为疾病标志物 患者，并将验证KATP通道抑制剂作为适当的治疗在独特的动物模型CS和 患者来源的细胞。该项目的成功完成将完成临床试验准备， 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.