Clinical trials: Cardiac Abnormalities
Orphan Cholestatic Liver Diseases, Progressive Familial Intrahepatic Cholestasis
An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects
The primary objectives of the study are to assess the mass balance recovery after a single dose of carbon-14 [14C]-A4250 as a capsule and to provide plasma, urine and faecal samples for metabolite profiling and structural…
- Conditions
- Orphan Cholestatic Liver Diseases, Progressive Familial Intrahepatic Cholestasis, Alagille Syndrome, Primary Biliary Cirrhosis
- Trial name
- NCT03082937
- Testing
- 3 mg [14C]-A4250 capsule
- Where
- United Kingdom
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Albireo
Turner Syndrome, Hypogonadism
Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
Estrogen is necessary for feminization during puberty and to decrease bone resorption, the latter critical for the achievement of peak bone mass and normal bone health in the female.
- Conditions
- Turner Syndrome, Hypogonadism, Premature Ovarian Failure
- Trial name
- NCT00837616
- Testing
- 17 B estradiol orally, 17 B estradiol
- Where
- 3 sites in United States, Chile
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic
Coronary Artery Disease, Arteriovenous Malformations
Molecular Determinants of Coronaruy Artery Disease
The purpose of this study is to discover genes that may cause Coronary Artery Disease (CAD) or Arteriovenous Malformation (AVM).
- Conditions
- Coronary Artery Disease, Arteriovenous Malformations, Myocardial Infarction
- Trial name
- GeneQuest (NCT00590291)
- Where
- United States
- Volunteers
- 1,461 people, healthy volunteers welcome
- Sponsor
- John Barnard
Williams Beuren Syndrome, Williams Syndrome
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
The goal of this observational natural history study is to better characterize development, transition to adulthood, health and behavior of individuals diagnosed with Williams syndrome (WS) or carrying other variants of 7q11.23…
- Conditions
- Williams Beuren Syndrome, Williams Syndrome, Williams Beuren Region Duplication, Dup7
- Trial name
- NCT06930417
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Neurofibromatosis Type 1
Subtle Myocardial Deformation Abnormalities in Asymptomatic Nf-1 Patients
Subtle myocardial deformation abnormalities in asymptomatic nf-1 patients: is cardiac screening needed?
- Trial name
- NCT02505412
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Tel-Aviv Sourasky Medical Center
Cardiomyopathy
Speckle Tracking in Pediatric Patients
An echocardiogram, also called a cardiac ultrasound or echo, is a medical test that takes pictures of the heart using sound waves. It shows images of the structures of the heart without using radiation.
- Trial name
- NCT00489957
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Emory University
Congenital Adrenal Hyperplasia, Exercise Capacity
Exercise Capacity, Physical Fitness, and Physical Activity Levels in Children With CAH
Congenital Adrenal Hyperplesia (CAH) is a group of automosal recessive disorders that develop due to a deficiency of one of the five enyzmes necessary for cortisol synthesis in the adrenal cortex.
- Conditions
- Congenital Adrenal Hyperplasia, Exercise Capacity, Physical Activity, Quality of Life
- Trial name
- NCT06449456
- Where
- Turkey (Türkiye)
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Respiratory Failure, Respiratory Arrest
Postoperative Respiratory Abnormalities
The study aims to determine how historical cases of respiratory abnormalities are documented by clinicians in the electronic health records (EHR) of Memorial Hermann Healthcare System (MHHS) inpatient facilities.
- Conditions
- Respiratory Failure, Respiratory Arrest, Respiratory Distress Syndrome, Acute Respiratory Failure
- Trial name
- AI-ARF (NCT04079829)
- Testing
- Observational retrospective cohort to describe data validity; and Data reliability; and Completeness of the data
- Where
- United States
- Volunteers
- 50,000 people, healthy volunteers welcome
- Sponsor
- Efficacy Care R&D Ltd
Healthy Adults (Full Study and Extension Phase), Hypertrophic Cardiomyopathy or Dilated Cardiomyopathy
A Pilot Project Exploring the Impact of Whole Genome Sequencing in Healthcare
The MedSeq™ Project seeks to explore the impact of incorporating information from a patient's whole genome sequence into the practice of clinical medicine.
- Trial name
- NCT01736566
- Testing
- Family History + Whole Genome Sequencing, Family History Only
- Where
- United States
- Volunteers
- 213 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Neonatal Congenital Heart Disease
Optimization of Two-Indicator Screening Protocol for Neonatal Congenital Heart Disease at High Altitude
This is a prospective observational screening study. First, researchers will optimize a two-indicator screening protocol for neonatal congenital heart disease (NCHD) adapted to high-altitude regions and evaluate its screening…
- Trial name
- NCT07901998
- Volunteers
- 6,300 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Fudan University
Diabetes Mellitus, Hypertension
Evidence-based Laboratory Test Order Sets in Primary Care
Cluster randomised controlled trial to evaluate what the effect is of evidence-based order sets aimed at five indications on the appropriateness of laboratory test ordering in primary care.
- Conditions
- Diabetes Mellitus, Hypertension, Cardiovascular Diseases, Fatigue
- Trial name
- NCT02950142
- Testing
- CPOE with order sets for lab testing, CPOE without order sets for lab testing
- Where
- Belgium
- Volunteers
- 288 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Brain Infarction, Ischemic Stroke
Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Etiology, Triggers, and Outcome
BACKGROUND: In industrialized countries a considerable and increasing proportion of strokes occur at younger ages. Stroke at young age causes marked disability at worst and thus long-standing socioeconomic consequences and…
- Conditions
- Brain Infarction, Ischemic Stroke, Thrombosis, Foramen Ovale, Patent
- Trial name
- SECRETO (NCT01934725)
- Where
- 19 sites in Estonia, Finland and 11 more
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- SECRETO Study Consortium
Fever, COPD
The Application of a Wireless Sensor Technology for Vital Statistics in CHILDREN AND ADULTS
The primary outcome for this project will be the development of a small, non-invasive wireless sensor that is linked to a conventional computer that can be used in health care for monitoring of acute and chronic health problems.
- Conditions
- Fever, COPD, Obesity, Congenital Heart Disease
- Trial name
- NCT01845506
- Testing
- Cardiorespiratory monitor, Wireless pressure sensor
- Where
- Canada
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's
Marfan Syndrome
Clinical Variability in Marfan Syndrome
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1). Penetrance of FBN1 mutations is complete but intra and inter familial clinical expressivity is extremely…
- Trial name
- Variarfan (NCT01707563)
- Testing
- skin punch biopsy and molecular biology, fibroblast culture and molecular biology
- Where
- France
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness
Marfan Syndrome, Loeys-Dietz Syndrome
Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
The primary objective of this study is to determine whether specific patterns of circulating micro-ribonucleic acids (miRNAs) are associated with aortic aneurysm and dissection in patients with hereditary aortopathy syndromes.
- Conditions
- Marfan Syndrome, Loeys-Dietz Syndrome, Thoracic Aortic Aneurysm and Dissection Syndromes, Ehlers-Danlos Type IV Syndrome
- Trial name
- NCT02213484
- Where
- 2 sites in United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Congenital Heart Disease, ICF
Investigation of Adults With Congenital Heart Disease in the Scope of the ICF
Congenital heart disease (CHD) is one of the common birth defects with a prevalence of approximately 1 in 1000 live births worldwide.
- Conditions
- Congenital Heart Disease, ICF, Quality of Life
- Trial name
- NCT05774158
- Testing
- Physiotherapy assessment
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
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
Turner Syndrome
Beta Cell Function in Women With Turner Syndrome
Diabetes is more frequent in women with Turner syndrome. The purpose of this study is to see, in what ways the glucose metabolism is different in this study population.
- Trial name
- NCT00419107
- Where
- Denmark
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
22q11.2 Deletion Syndrome
Understanding of Psychotic Disorders in Children With 22q11.2DS
The study PremiCeS22 will investigate the prodromal signals at the onset of psychotic disorders of children with 22q11.2 deletion syndrome
- Trial name
- PremiCeS22 (NCT04639388)
- Testing
- neuropsychological testing, questionnaires and experimental tasks
- Where
- France
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Hôpital le Vinatier