Clinical trials: Genetic Testing
Chuvash Polycythemia, Cerebrovascular Disease
Pulmonary Hypertension, Hypoxia and Sickle Cell Disease
The study will look at the risk factors for pulmonary hypertension (high blood pressure in the lungs) in children and adolescents with sickle cell anemia (SCA) and examine the role of hypoxia (oxygen shortage) in the disease.
- Conditions
- Chuvash Polycythemia, Cerebrovascular Disease, Pulmonary Hypertension, Sickle Cell Anemia
- Trial name
- NCT00495638
- Where
- 7 sites in United States, Russia
- Volunteers
- 29 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Systemic Sclerosis, Scleroderma
Scleroderma Registry
Scleroderma is likely caused by a combination of factors, including an external trigger (infection or other exposure) and a genetic predisposition.
- Trial name
- Registry (NCT00074568)
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Healthy Volunteers, Non-Healthy/Non-Frail
Genetic and Epigenetic Signatures of Translational Aging Laboratory Testing (GESTALT)
Background: Biomarkers are substances in people's blood and tissues. They help researchers understand diseases and signs of aging.
- Conditions
- Healthy Volunteers, Non-Healthy/Non-Frail, Frail
- Trial name
- NCT02339012
- Where
- United States
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- National Institute on Aging (NIA)
Covid19, Androgen Receptor Gene Overexpression
COVID-19 In-vitro Diagnostic Test and Androgen Receptor Gene Expression
This research study will evaluate the association of Androgen Receptor (AR) gene expression and COVID-19 disease severity and mortality.
- Trial name
- NCT04530500
- Testing
- COVID-19 Androgen Sensitivity Test (CoVAST)
- Where
- 2 sites in United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of California, Irvine
Cancer Predisposition Syndrome, Predisposition, Genetic
Evaluation of Multi-Cancer Early Detection Testing in a High-Risk Population: The INFORM Study
The purpose of this research study is to evaluate the possible benefits and harms of screening with an investigational blood test designed to detect many types of cancer early.
- Trial name
- NCT06450171
- Testing
- GRAIL Galleri Test
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Dana-Farber Cancer Institute
Coronary Heart Disease, Susceptibility to, 5, Prediabetic State
Genetic Risk and Health Coaching for Type 2 Diabetes and Coronary Heart Disease
The purpose of this study is to examine whether the use of genetic test information and/or health coaching in patient risk counseling for heart disease and diabetes affect health behaviors and health outcomes in active-duty Air…
- Trial name
- NCT01884545
- Testing
- Health coaching, Genetic risk counseling, Standard risk assessment
- Where
- United States
- Volunteers
- 220 people, healthy volunteers welcome
- Sponsor
- Duke University
Hemophilia
Motor Proficiency of People With Bleeding Disorders Using the BOT-2 (TM)
The purpose of this study is to find out if gross motor skills of children and young adults with bleeding disorders are different from those without bleeding disorders.
- Trial name
- NCT02279199
- Where
- 2 sites in United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
Age-Related Macular Degeneration
Genetic Study of Age-Related Macular Degeneration
This study will examine skin and blood cells for genetic changes related to the development of age-related macular degeneration, an eye disease that can significantly impair the ability to read, drive, and carry out daily…
- Trial name
- NCT00357578
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Nevi
Study to Test Genetic Alterations Among Different Dermoscopic Types of Melanocytic Nevi.
This project is a multicenter study in which we will investigate a dual concept of nevogenesis. Study location is the Department of Dermatology at the Medical University of Graz in collaboration with centers in Austria (Vienna)…
- Trial name
- NCT00422448
- Testing
- To test the frequency of BRAF and NRAS mutations among nevi
- Where
- Austria
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Medical University of Graz
Cystic Fibrosis
Blood Flow and Vascular Function in Cystic Fibrosis
Cystic fibrosis (CF) has many health consequences. A reduction in the ability to perform exercise in patients with CF is related to greater death rates, steeper decline in lung function, and more frequent lung infections.
- Trial name
- CF-FLOW (NCT02057458)
- Testing
- Sildenafil (Acute-1 hour), Sildenafil (Subchronic-4 weeks)
- Where
- United States
- Volunteers
- 19 people, healthy volunteers welcome
- Sponsor
- Augusta University
Pregnancy Related
Cell-Based Noninvasive Prenatal Testing
The purpose of the overall study is to develop improved methods for recovery and analysis of fetal cells from the mother's blood in order to develop clinically useful forms of cell-based, diagnostic, noninvasive prenatal testing…
- Trial name
- NIPT (NCT05245266)
- Testing
- Redraw for analysis of blood samples from healthy pregnant women
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Luna Genetics
Autosomal Dominant Polycystic Kidney Disease
Adrenal Functions in Autosomal Dominant Polycystic Kidney Disease
We aimed to evaluate the hypothalamus-pituitary-adrenal axis in autosomal dominant polycystic kidney disease (ADPKD) patients. Twenty two ADPKD patients and 27 healthy subjects were enrolled.
- Trial name
- NCT00598377
- Testing
- Tetracosactin
- Where
- Turkey (Türkiye)
- Volunteers
- 49 people, healthy volunteers welcome
- Sponsor
- Istanbul University
BRCA1-Related Hereditary Breast and Ovarian Cancer Syndrome, BRCA2-Related Hereditary Breast and Ovarian Cancer Syndrome
A Web-Based Program (Kindred) to Improve the Understanding of Genetic Cancer Risk and Cancer Genetic Testing in African American Families
This clinical trial studies whether a web-based program, Kindred, works to improve the understanding of genetic cancer risk and cancer genetic testing in African American families.
- Conditions
- BRCA1-Related Hereditary Breast and Ovarian Cancer Syndrome, BRCA2-Related Hereditary Breast and Ovarian Cancer Syndrome, Hereditary Neoplastic Syndrome, Lynch Syndrome
- Trial name
- NCT07542405
- Testing
- Discussion, Internet-Based Intervention, Survey Administration
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University of Michigan Rogel Cancer Center
Trisomy 21, Trisomy 18
Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood
Each year, 450,000 Canadian women become pregnant and, as a result of their participation in prenatal screening for Down syndrome, approximately 10,000 of them will have an amniocentesis (i.e.
- Conditions
- Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- PEGASUS (NCT01925742)
- Testing
- Integrated prenatal screening for Down's syndrome, Serum QUAD Assay for aneuploidy screening, Semiconductor MPSS NIPT assay using ccfDNA in maternal blood
- Where
- 5 sites in Canada
- Volunteers
- 3,819 people, healthy volunteers welcome
- Sponsor
- CHU de Quebec-Universite Laval
G6PD Deficiency
Validation of a Diagnostic Test for Glucose-6-phosphate Dehydrogenase (G6PD) Deficiency in Anti-coagulated Blood
The primary objective of the study is to assess the accuracy of the SD Biosensor STANDARD™ point-of-care (POC) G6PD test in measuring G6PD activity and classifying results compared to a reference assay and across repeated…
- Trial name
- NCT04054661
- Testing
- SD Biosensor STANDARD G6PD Test, Pointe Scientific Test Kit, HemoCue System
- Where
- United States
- Volunteers
- 229 people, healthy volunteers welcome
- Sponsor
- PATH
Hereditary Cancer Syndromes
Increasing Uptake of Cascade Testing in Families With Familial Cancer Syndromes: A Randomized Controlled Trial of a Registry-aided Model.
The purpose of this study is to compare the uptake rates of a patient-initiated model of cascade testing with a registry-aided model amongst relatives of patients identified to have a particular cancer predisposition gene.
- Trial name
- NCT07626814
- Testing
- Proband-dependent approach, Combination of the proband-dependent approach with additional registry-aided testing reminders
- Where
- Singapore
- Volunteers
- 545 people, healthy volunteers welcome
- Sponsor
- National Cancer Centre, Singapore
Breast Cancer, Ovarian Cancer
Genetic Testing for Breast, Ovarian, Pancreatic, and Prostate Cancers
This study is evaluating the effect of two pre-test education methods on participants interested in genetic testing for hereditary cancer risk.
- Conditions
- Breast Cancer, Ovarian Cancer, Pancreatic Cancer, Metastatic Prostate Cancer
- Trial name
- GeneBOPP (NCT04330716)
- Testing
- Standard Genetic Counseling, Educational Video
- Where
- 6 sites in United States
- Volunteers
- 269 people, healthy volunteers welcome
- Sponsor
- Dana-Farber Cancer Institute
Genetic Predisposition to Disease, Genetic Predisposition
Enhancing Information Management for Young Adults After Genetic Cancer Risk Testing
This research is being done to develop the electronic platform Nest for young adults (ages 18-39) who have had prior cancer genetic testing.
- Trial name
- NCT05759143
- Testing
- Nest Platform
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Dana-Farber Cancer Institute
Cardiac Valve Disease
Prothrombin Complex Concentrate vs Fresh Frozen Plasma in Goal-directed Bleeding Management in Cardiac Surgery
The primary endpoint of this study is the completion time of hemostasis treatment when administered Fresh frozen plasma (FFP) and frozen powder coagulation factor concentrate (PCC) in goal-directed bleeding management for cardiac…
- Trial name
- NCT06144125
- Testing
- fresh frozen plasma, prothrombin complex concentrate
- Where
- South Korea
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Konkuk University Medical Center
Pancreatitis
Genetic Analysis for Predicting of Relapse During Steroid Treatment for Autoimmune Pancreatitis (AIP)
To determine whether certain alleles or haplotypes of major histocompatibility complex gene are associated with AIP in Korean population, we undertook this study with high-resolution typing for HLA (sequence-based typing).
- Trial name
- NCT00444444
- Where
- South Korea
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Asan Medical Center