Clinical trials: Genetics Predisposition
Breast Cancer
Personalised Risk-based Breast Cancer Prevention and Screening
This is a cohort study, applied research and T3 translational genomics to estimate the impact of genetic risk for breast cancer detection in the screening program.
- Trial name
- NCT03989258
- Testing
- Mammography outside official screening
- Where
- 2 sites in Estonia
- Volunteers
- 28,389 people
- Sponsor
- Tartu University Hospital
Fanconi Anemia, Autosomal or Sex Linked Recessive Genetic Disease
Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
Fanconi anemia is a rare autosomal or sex linked recessive genetic disease. The disease is characterized by bone marrow hematopoiesis failure, multiple congenital abnormalities, and susceptibility to neoplastic diseases.
- Conditions
- Fanconi Anemia, Autosomal or Sex Linked Recessive Genetic Disease, Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases., Hematopoiesis Maintainance.
- Trial name
- NCT01995305
- Testing
- human whole exome, whole genomic
- Where
- China
- Sponsor
- Xiaofan Zhu
Obesity, Children
Polygenic Risk Score to Predict Weight Loss Intervention in Children With Obesity
Children with obesity are prone to suffering from metabolic diseases, which undoubtedly increases the burden of public health. Since obesity is a multiple gene disease, a comprehensive approach using polygenic risk scores (PRS)…
- Trial name
- NCT05466097
- Where
- Taiwan
- Volunteers
- 300 people
- Sponsor
- Far Eastern Memorial Hospital
Alzheimer Disease, Genetic Predisposition to Disease
Telephone Versus Videoconference Communication for Remote Genetic Disclosure in the APOE4 Trial
The purpose of this study is to compare two methods for remote genetic counseling (telephone and two-way videoconferencing) for patients who are receiving disclosure of their APOE (apolipoprotein E) genotype.
- Trial name
- CONNECT4APOE (NCT02978729)
- Testing
- Two-way videoconference remote genetic counseling, Telephone remote genetic counseling
- Volunteers
- 613 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations
Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome
Background: A germline mutation is a change to a person s genes that is carried through their DNA. These mutations can be passed on from parents to their offspring.
- Conditions
- Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations, Tumor Predisposition Syndrome (TPDS), Mesothelioma
- Trial name
- NCT04431024
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Atrial Fibrillation, Inflammation
Impact of Inflammatory Indexes and Gene Scores in Prediction of Atrial Fibrillation
Because of the high recurrence rates following electrical cardioversion and high morbidity in AF patients there is a need to explore prediction models for AF recurrence following ECV.
- Conditions
- Atrial Fibrillation, Inflammation, Genetic Predisposition to Disease
- Trial name
- IERV (NCT06399666)
- Testing
- Blood sampling
- Where
- 2 sites in Sweden
- Volunteers
- 182 people, healthy volunteers welcome
- Sponsor
- Vrinnevi Hospital
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
HIV Infection
Clinical Utility Of Genetic Screening For HLA-B*5701, On Susceptibility To Abacavir Hypersensitivity
Study to evaluate the utility of prospective HLA-B*5701 screening on the incidence of abacavir hypersensitivity (ABC HSR) in 1800 previously ABC-naive adults with HIV-1 from Europe, Australia and other countries as applicable.
- Trial name
- NCT00340080
- Testing
- Abacavir
- Where
- 254 sites in Australia, Austria and 17 more
- Volunteers
- 1,806 people
- Sponsor
- GlaxoSmithKline
Optic Neuritis, Multiple Sclerosis
Early Prediction of Outcomes Following Optic Neuritis: Development and Acceptability of a Prognostic Tool
The goal of this observational study is to determine whether genetic information, together with clinical information, can be used to improve prediction of future multiple sclerosis (MS) diagnosis after a first-time episode of…
- Conditions
- Optic Neuritis, Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder, Myelin Oligodendrocyte Glycoprotein (MOG)-Antibody Related Disorders
- Trial name
- MS Predictor (NCT07704294)
- Testing
- No Intervention: Observational Cohort
- Where
- 3 sites in United Kingdom
- Volunteers
- 180 people
- Sponsor
- King's College London
Genetics Disease, Genetics/Birth Defects
VIGOR: Virtual Genome Center for Infant Health
This study will provide rigorous evaluation of implementing a virtual genome center into community clinical settings without highly specialized resources, thereby offering generalizable insights as to how best to implement…
- Conditions
- Genetics Disease, Genetics/Birth Defects, Genetic Predisposition to Disease
- Trial name
- NCT05205356
- Where
- 10 sites in United States
- Volunteers
- 631 people
- Sponsor
- Boston Children's Hospital
Pancreatic Cancer, Adult
Pancreatic Cancer Screening for At-risk Individuals
The investigators' goal is to conduct a prospective multicenter study to evaluate the yield and outcomes of screening of pancreas cancer in individuals who are at-risk for pancreatic cancer.
- Trial name
- PancreasScan (NCT05006131)
- Testing
- Screening for pancreatic cancer
- Where
- United States
- Volunteers
- 1,395 people
- Sponsor
- Beth Israel Deaconess Medical Center
Coronary Artery Disease
Development of a Risk Prediction Algorithm Through the Investigation of Genetic Risk Factors and the Complexity of Coronary Artery Disease to Estimate Future Risk of Cardiovascular Events: Angiographic (SYNTAX Score), Clinical and Pharmacogenetic Analysis.
The purpose of the research project is to investigate the potential association of 207 genetic polymorphisms with the complexity and the severity of coronary artery disease (SYNTAX score), along with the patients' response to…
- Trial name
- GESS (NCT03150680)
- Testing
- SNPs associated with CAD, SNPs associated with pharmacological response to clopidogrel and statins
- Where
- Greece
- Volunteers
- 1,080 people
- Sponsor
- AHEPA University Hospital
Cancer Predisposition Syndromes, Pediatric Cancer
Questionnaire on Congenital Cancer Signs Through Self-Assessment
This clinical trial tests whether a patient- and caregiver-completed questionnaire (QUOCCAS) can accurately help identify children and adolescents with cancer who may have an underlying cancer predisposition syndrome (CPS).
- Conditions
- Cancer Predisposition Syndromes, Pediatric Cancer, Childhood Neoplasms, Hereditary Cancer Syndromes
- Trial name
- QUOCCAS (NCT07378423)
- Testing
- Pre-Visit Preparation (PVP) Brochure, QUOCCAS Questionnaire, Germline genetic sequencing for Cancer Predisposition Syndromes (CPS)
- Where
- Switzerland
- Volunteers
- 205 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Pneumonia, Sepsis
Study of Progression of Community Acquired Pneumonia in the Hospital in Patients With More Severe Preexisting Diseases and Immunosuppression
Pneumonia is a common infectious disease of the lung, often requiring treatment in the hospital. Clinical scoring systems are available, identifying patients not requiring hospitalization.
- Conditions
- Pneumonia, Sepsis, Shock, Septic
- Trial name
- PROGRESSCOMORB (NCT05688774)
- Where
- 10 sites in Germany
- Volunteers
- 300 people
- Sponsor
- Pneumonia Research Network on Genetic Resistance and Susceptibility for the Evolution of Severe Seps
Pediatric Disorder, Genetic Predisposition
Pharmacogenomic Contributions to Trihexyphenidyl Biotransformation and Response in Children With Dystonic Cerebral Palsy
This study looks at how a medicine called trihexyphenidyl works in children with dystonic cerebral palsy. The study aims to understand how trihexyphenidyl is broken down and used in the body of pediatric patients and whether this…
- Conditions
- Pediatric Disorder, Genetic Predisposition, Dystonia, Secondary, Dystonia
- Trial name
- TRIKE2 (NCT06554288)
- Testing
- Trihexyphenidyl
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Children's Mercy Hospital Kansas City
Coronary Heart Disease, Type 2 Diabetes
Returning Genome and Metabolome Data to FinTerveys 2017 Participants: P5.fi FinTerveys Study
P5.fi study - P4 together with a fifth 'P' and '.fi' for population health Finally Implemented in Finland - studies the value of returning genetic and metabolomic risk information in two diseases (coronary heart disease and type…
- Conditions
- Coronary Heart Disease, Type 2 Diabetes, Deep Vein Thrombosis
- Trial name
- P5 (NCT03650127)
- Where
- Finland
- Volunteers
- 3,449 people, healthy volunteers welcome
- Sponsor
- Markus Perola
Primary Biliary Cirrhosis
Genetic Epidemiology of Primary Biliary Cirrhosis (PBC)
Primary Biliary Cirrhosis (PBC) is a progressive liver disorder of unknown cause. Current evidence suggests that genes, the genetic material we inherit from our parents, in combination with environmental factors, likely play an…
- Trial name
- NCT01161953
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- Mayo Clinic
Non-Alcoholic Fatty Liver Disease
Lysosomal Acid Lipase Activity in Nonalcoholic Fatty Liver Disease
Non-alcoholic fatty liver disease (NAFLD) is a multifactorial disease affecting a quarter of the world population. Pathological accumulation of fat, into the hepatocytes, is the first hit and is due to altered hepatic and…
- Trial name
- NAFLD LAL (NCT05419765)
- Testing
- Peripheral blood withdrawn
- Where
- Italy
- Volunteers
- 316 people
- Sponsor
- University of Roma La Sapienza
Hypertension (HTN), Cardiometabolic Diseases
Genetic Architecture of Natriuretic Peptides and Blood Pressure Response
Natriuretic peptides (NPs) are hormones produced by the heart and play an important role in maintaining cardiovascular health and have favorable metabolic benefits.
- Trial name
- NCT07118592
- Testing
- Low Salt Diet, High Salt Diet, Saline Infusion
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Genetic Predisposition, Exposure, Environmental
Mayo Clinic Precure - Prospective Study
The goal of this observational study is to 1) better understand and predict biological processes before disease begins or is identified, 2) study genomic and environmental contributors to disease, 3) identify ways to stop disease…
- Trial name
- NCT07332598
- Where
- United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic