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Clinical Trial Readiness for K channel inhibitors in Cantu Syndrome

K 通道抑制剂治疗坎图综合征的临床试验准备情况

基本信息

批准号：
10053408
负责人：
Dorothy Katherine Grange
金额：
$ 19.69万
依托单位：
WASHINGTON UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2020
资助国家：
美国
起止时间：
2020-08-01 至 2022-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10053408
关键词：
ABCC9 gene Address Adult Aneurysm Animal Model Attention deficit hyperactivity disorder Birth Blood Vessels Brain Cantu syndrome Cardiovascular Pathology Cardiovascular system Cell model Cells Child Clinic Clinical Clinical Trials Complex Controlled Clinical Trials Defect Development Developmental Delay Disorders Disease Disease Marker Disease Progression Ensure FDA approved Face Fatigue Future Genes Genetic Genetic Diseases Glyburide Goals Heart High birth weight infant Human Hypertrichosis Hypotension Image Investigation Lead Lymphedema Macrocephaly Measures Migraine Molecular Neurologic Non-Insulin-Dependent Diabetes Mellitus Outcome Assessment Outcome Measure Pancreas Patent Ductus Arteriosus Pathologic Pathology Patient Recruitments Patients Pericardial effusion Persistent Fetal Circulation Syndrome Phenotype Polyhydramnios Positioning Attribute Potassium Channel Preparation Pulmonary Hypertension Rare Diseases Readiness Reporting Research Severity of illness Smooth Muscle Myocytes Stroke Sulfonylurea Compounds System Testing Therapeutic Therapy trial Tissues Validation Vascular Smooth Muscle autism spectrum disorder blood glucose regulation channel blockers clinical examination cohort drug testing experimental study gain of function mutation in utero induced pluripotent stem cell inhibitor/antagonist insight neonatal diabetes mellitus neurocognitive test non-invasive imaging operation perinatal complications prenatal recruit

项目摘要

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.

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。