Clinical trials: Valve Anomalies
Bicuspid Aortic Valve Disease
Bicuspid Echocardiac Study Team（BEST）
The Chinese Bicuspid Aortic Valve (BAV) Ultrasound imaging cohort study is a Chinese BAV ultrasound imaging cohort study. At present, a retrospective study cohort involving more than 30 hospitals has been established.
- Trial name
- BEST (NCT05656820)
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Suzhou Municipal Hospital
Cardiovascular Diseases, Hypertrophic Cardiomyopathy (HCM)
AI-enabled Screening and Diagnosis of Cardiomyopathies Using Coronary CTA
The goal of this observational and diagnostic study is to develop and validate an artificial intelligence assisted approach for coronary computer tomography angiography-(CCTA)-based screening and diagnosis of cardiomyopathies in…
- Conditions
- Cardiovascular Diseases, Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Restrictive Cardiomyopathy
- Trial name
- Atlantis (NCT06748261)
- Testing
- CCTAI model
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Shanghai Zhongshan Hospital
Williams Syndrome, Duplication
Defining the Brain Phenotype of Children With Williams Syndrome
Background: Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with 7q11.23 genetic variation change during this period.
- Trial name
- NCT01132885
- Where
- United States
- Volunteers
- 415 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Williams Syndrome
Fat Distribution and Glucose Metabolism in Williams Syndrome
Williams Syndrome (WS) is a genetic syndrome with features that may include vascular stenoses, neuro-developmental changes, and a variety of endocrine and metabolic abnormalities, including impaired glucose metabolism and…
- Trial name
- NCT01864304
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
RAS Mutation, Neurofibromatosis 1
RASopathy Biorepository
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently.
- Conditions
- RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines
- Trial name
- NCT04395495
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Congenital Disorders
Predictors for Pulmonary Valve Replacement - Anatomic and Hemodynamic Using MRI
Magnetic Resonance Imaging (MRI) is a non-invasive test that can look at the heart without using radiation. An MRI will allow the doctors to look at the heart in order to assess how well the ventricle is pumping, the amount of…
- Trial name
- NCT00489788
- Volunteers
- 101 people, healthy volunteers welcome
- Sponsor
- Emory University
Cardiomyopathy, Dilated, Cardiomyopathy, Hypertrophic
Association of Insulin Resistance and FGF21 on Cardiac Function in Pediatric Dilated Cardiomyopathy
This study will investigate whether there is an association between insulin resistance and cardiac function in children with dilated or hypertrophic cardiomyopathy.
- Conditions
- Cardiomyopathy, Dilated, Cardiomyopathy, Hypertrophic, Insulin Resistance
- Trial name
- NCT04222101
- Testing
- Oral glucose tolerance test
- Where
- United States
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- Le Bonheur Children's Hospital
Congenital Heart Disease, Bicuspid Aortic Valve
Abnormal 3-D MRI Flow Patterns in Adolescents Patients With Bicuspid Aortic Valve
Bicuspid aortic valve (BAV) is a form of congenital heart disease (the person is born with it). With BAV, the heart valves in the aorta (the blood vessel that takes blood away from the heart to the body) are not formed right.
- Trial name
- NCT00412386
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Emory University
Williams-Beuren Syndrome, Micro-duplication 7q11.23 Syndrome
Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome
Introduction: Williams-Beuren syndrome is a rare genetic disorder caused by a 7q11.23 microdeletion. The phenotype associates vasculopathy (arterial stenosis, hypertension), dimorphism and intellectual disability.
- Conditions
- Williams-Beuren Syndrome, Micro-duplication 7q11.23 Syndrome, Vasculopathy
- Trial name
- ELAST7 (NCT04051086)
- Testing
- Physical examination and Urine and blood samples, Urine and blood samples
- Where
- France
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy
Metabolomic Study of All-age Cardiomyopathy
This study aims to 1)characterize the differentially expressed metabolites between cardiomyopathy patients and healthy controls,2)identify the specific biomarkers associated with outcomes or risk evaluation in patients with…
- Conditions
- Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Left Ventricular Non-compaction
- Trial name
- MAC (NCT03061994)
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Beijing Institute of Heart, Lung and Blood Vessel Diseases
Williams Syndrome, Supravalvular Aortic Stenosis
Impact of Elastin Mediated Vascular Stiffness on End Organs
Background: People with Williams Syndrome (WS) and supravalvular aortic stenosis (SVAS) have less elasticity in their blood vessels. This is called blood vessel stiffness.
- Conditions
- Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
- Trial name
- NCT02840448
- Where
- 2 sites in United States
- Volunteers
- 159 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Aortic Stenosis, Hypoplastic Left Heart Syndrome
Fetal Intervention for Aortic Stenosis and Evolving Hypoplastic Left Heart Syndrome
For fetuses with severe aortic stenosis, in utero balloon aortic valvuloplasty may improve fetal growth of left heart structures and thus improve potential for biventricular repair strategies after birth.
- Trial name
- NCT01736956
- Testing
- Fetal Aortic Valvuloplasty
- Where
- United States
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Mental Disorders
Effects of Emotion on Episodic Memory in Typically Developing Children and Children With Williams-Beuren Syndrome
It's well established in the literature that emotional events are more likely to be remembered than neutral events. Although this Emotional Enhancement of Memory (EEM) has been well demonstrated in the adult literature, little is…
- Trial name
- EEM-TAdev (NCT03688516)
- Testing
- Manipulation of valence and modality, Spatial and recognition memory, Source and content memory
- Where
- France
- Volunteers
- 280 people, healthy volunteers welcome
- Sponsor
- Hôpital le Vinatier
Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy
Non-Invasive Evaluation of Myocardial Stiffness by Elastography in Pediatric Cardiology (Elasto-Pédiatrie)
First, investigators must determine the physiological standards across age classes of myocardial stiffness estimated by Elastography in ultrafast (estimated right ventricular stiffness [VD] and left ventricular [LV]).
- Trial name
- NCT02619825
- Testing
- Echography, Elastography
- Where
- France
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- French Cardiology Society
Hypertrophic Cardiomyopathy
Egyptian Hypertrophic Cardiomyopathy Program
Egyptian HCM program aims at defining incidence, severity, phenotype, genotype and determinants of the disease in Egypt, and providing state-of-the-art treatment strategies including medical, surgical and interventional…
- Trial name
- NCT05884892
- Where
- Egypt
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Magdi Yacoub Heart Foundation
Bicuspid Aortic Valve
Identification of Genetic Causes of Bicuspid Aortic Valve Disease
BAVgenetics is a partnership between Investigators at Boston University, Brigham and Women's Hospital, and Massachusetts General Hospital dedicated to discovering the genetic causes of bicuspid aortic valve disease and associated…
- Trial name
- BAV Genetics (NCT01026571)
- Where
- United States
- Volunteers
- 11,000 people, healthy volunteers welcome
- Sponsor
- Boston University
Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy
An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China
This is a multi-omics research of Chinese cardiomyopathies patients, aiming to determine genetic risk factor and serial biomarkers of cardiomyopathies in diagnosis and prognosis.
- Conditions
- Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Left Ventricular Non-compaction
- Trial name
- AOCC (NCT03076580)
- Where
- 3 sites in China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Beijing Institute of Heart, Lung and Blood Vessel Diseases
Fontan Procedure, Hypoplastic Left Heart Syndrome
Global and Regional Myocardial Strain and Power Output In Patients With Single Ventricles Using Novel MRI Techniques
The investigators are beginning a clinical research study here at UCSF to learn more about how hearts with single ventricles work.
- Conditions
- Fontan Procedure, Hypoplastic Left Heart Syndrome, Tricuspid Atresia, Double Inlet Left Ventricle
- Trial name
- NCT01107990
- Where
- United States
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Williams Syndrome, Autism Disorder
Research on the Molecular Mechanism of Cognitive Differences Between Williams Syndrome and Autism Spectrum Disorder
Williams Syndrome (WS) is a rare neurodevelopmental disorder, usually caused by microdeletions of approximately 26 genes in the long arm (7q11.23) region of chromosome 7.
- Trial name
- WS and ASD (NCT07509879)
- Where
- China
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Qilu Hospital of Shandong University
Williams Syndrome, Induced Pluripotent Stem Cell (Ips Cell)
A Case-Control Observational Study of Peripheral Blood-Derived iPSC Models to Investigate Oligodendrocyte Lineage Development in Children With Williams Syndrome and Healthy Controls
This study aims to collect peripheral blood samples from children with Williams syndrome (WS) and healthy children, establish a cell line of induced pluripotent stem cells (iPSCs) derived from the subjects, and further induce and…
- Trial name
- NCT07537374
- Testing
- one-time peripheral blood collection
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Qilu Hospital of Shandong University