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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：
10227247
负责人：
Dorothy Katherine Grange
金额：
$ 23.63万
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 2023-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10227247
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 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 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 clinical outcome assessment clinical outcome measures clinical trial readiness 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.

项目总结

项目成果

期刊论文数量（5）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

A Unique High-Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome.

DOI：
10.1161/jaha.122.027363
发表时间：
2022-12-20
期刊：
JOURNAL OF THE AMERICAN HEART ASSOCIATION
影响因子：
5.4
作者：
Singh, Gautam K.;McClenaghan, Conor;Aggarwal, Manish;Gu, Hongjie;Remedi, Maria S.;Grange, Dorothy K.;Nichols, Colin G.
通讯作者：
Nichols, Colin G.

Behavioral and cognitive functioning in individuals with Cantú syndrome.

DOI：
10.1002/ajmg.a.62348
发表时间：
2021-08
期刊：
American journal of medical genetics. Part A
影响因子：
0
作者：
Roessler HI;van der Heuvel LM;Shields K;Guilliams KP;Knoers NVAM;van Haaften G;Grange DK;van Haelst MM
通讯作者：
van Haelst MM