Clinical trials: Genetic Predisposition
Vascular Dysfunction, Genetic Mutations
Vascular Disease Discovery Protocol
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels.
- Conditions
- Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
- Trial name
- NCT03538639
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Follicular Lymphoma, Genetic Predisposition to Disease
Constitutional Genetics in Follicular Lymphoma
Follicular lymphoma is the second most common adult B-cell lymphoma. The acquisition of the t(14;18) translocation is the genetic hallmark of Follicular lymphoma.
- Trial name
- CONPIL (NCT03234140)
- Testing
- Genome Wide Association Studies, Single-nucleotide polymorphisms's genotyping
- Where
- France
- Volunteers
- 1,883 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
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)
Myocarditis, Ventricular Arrhythmia
Role of Endomyocardial Biopsy and Aetiology-based Treatment in Pediatric Patients with Inflammatory Heart Disease in Arrhythmic and Non-arrhythmic Clinical Presentations: an Integrated Approach for the Optimal Diagnostic and Therapeutic Management (MYOPED)
Myocarditis is a complex inflammatory disease, usually occurring secondary to viral infections, autoimmune processes or toxic agents.
- Conditions
- Myocarditis, Ventricular Arrhythmia, Inflammatory Cardiomyopathy, Genetic Predisposition
- Trial name
- MYOPED (NCT06591260)
- Testing
- support treatment, cardiac medical treatment, aetiology-specific treatment, device implant, arrhythmia ablation
- Where
- Italy
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Scientific Institute San Raffaele
Diabetes Mellitus
for Adipose Tissue DIabetes VAriants (fATDIVA)
The adipose (fat) cells under the skin are where individuals store excess fat. The more excess fat they have, the more "strain" they put on these cells which then get bigger and don't work as well as they should.
- Trial name
- fATDIVA (NCT02505321)
- Testing
- Oral Triglyceride Tolerance Test (OTTT), Abdominal fat biopsy (optional)
- Where
- United Kingdom
- Volunteers
- 304 people, healthy volunteers welcome
- Sponsor
- Royal Devon and Exeter NHS Foundation Trust
Kidney Neoplasms, Kidney Cancer
Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer
This study will investigate the genetic cause of Birt Hogg-Dube (BHD) syndrome and the relationship of this disorder to kidney cancer.
- Conditions
- Kidney Neoplasms, Kidney Cancer, Pneumothorax, FLCN Protein, Human
- Trial name
- NCT00033137
- Where
- United States
- Volunteers
- 950 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
DiGeorge Syndrome, Velocardiofacial Syndrome
Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study
Velocardiofacial syndrome, also known as 22q11.2 syndrome or DiGeorge syndrome, has been associated with many features such as a cleft palate, heart defects, and learning, speech and feeding problems.
- Conditions
- DiGeorge Syndrome, Velocardiofacial Syndrome, 22q11.2 Syndrome
- Trial name
- NCT00105274
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Listeriosis
Genetic Susceptibility and Biomarkers in Listeriosis
Listeriosis is a rare, severe foodborne infection caused by the bacterium Listeria monocytogenes (Lm). It manifests as septicemia, central nervous system (CNS) infection and maternal-fetal (MF) infection.
- Trial name
- MONALISAGENBIO (NCT02924220)
- Where
- France
- Volunteers
- 1,080 people, healthy volunteers welcome
- Sponsor
- Institut Pasteur
Genetic Predisposition
GIA in Cascade Testing
The objective of this pilot study is to evaluate the feasibility and acceptability of GIA in sharing genetic test results with family members. To determine the utility of GIA in sharing information.
- Trial name
- GIA (NCT04142333)
- Testing
- GIA
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Ovarian Neoplasm Epithelial, Hereditary Breast and Ovarian Cancer Syndrome
Inherited Susceptible Genes Among Epithelial Ovarian Cancer
Purpose: To investigate the prevalence of the germline mutations in the BRCA 1/2 and mismatch repair genes in patients with epithelial ovarian cancer (EOC) and their relatives, and related somatic mutations in tumor tissues in…
- Trial name
- NCT03015376
- Where
- 2 sites in China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Peking Union Medical College Hospital
Nephrolithiasis
Genetic Study of Nephrolithiasis in Gouty Diathesis
Gouty diathesis describes uric acid or calcium oxalate nephrolithiasis and low urinary pH (<5.5). A hereditary component has been outlined for several forms of nephrolithiasis (such as hypercalciuria, hyperoxaluria, cystinuria…
- Trial name
- NCT00149305
- Testing
- Genetic analyses
- Where
- Italy
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research
Hypertension
Blood Pressure Follow-up Study in Two Chinese Cohorts(C-BPCS)
Essential hypertension is a complex trait which results from interaction between environmental factors and genetic factors. The aim of this study is to investigate the effects of interaction between environmental factors and…
- Trial name
- C-BPCS (NCT02734472)
- Testing
- Incidence and risk factors of hypertension
- Where
- China
- Volunteers
- 5,298 people, healthy volunteers welcome
- Sponsor
- First Affiliated Hospital Xi'an Jiaotong University
Diabetes Mellitus, Insulin-Dependent
Genetic and Environmental Risk Factors of Type 1 Autoimmune Diabetes and Its Early Complications
The aim of this study is to complete the identification of genetic factors (G) and to undertake the search of environmental factors (E) predisposing to type 1 diabetes (T1D) by constituting a cohort of 3500 T1D patients and a…
- Trial name
- ISIS-DIAB (NCT02212522)
- Testing
- Collect of environmental data on T1D patients before diagnosis, Collect of blood samples for DNA extraction and genetic characterization (GWAS), Collect of clinical data on the disease and its evolution
- Where
- France
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Prostate Cancer, Familial Prostate Cancer
Prostate Cancer Prevention Clinic for Men With Risk of Familial Prostate Cancer
Secondary prevention of prostate cancer (PCa) is not standardized and high-risk groups at the time of diagnosis are not well defined.
- Trial name
- ProFam-Risk (NCT05681416)
- Testing
- Panel sequencing, whole exome sequencing, whole genome sequencing
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Heinrich-Heine University, Duesseldorf
Genetic Predisposition, Type2diabetes
The Effect of rs7903146 Genotype on Islet GLP-1 Production in Humans
The investigators recently demonstrated that blockade of Glucagon-Like Peptide-1's (GLP-1) receptor (GLP1R) results in changes in islet function without changes in circulating GLP-1.
- Trial name
- NCT06972407
- Testing
- Exendin 9-39, Saline
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Genetic Predisposition to Disease
Assesment of Multiomics Profiles in Health and Disease.
This study will determine reference genomic, transcriptomic, proteomic and metabolomic profiles in Czech population and will evaluate its correlation with the disease phenotype.
- Trial name
- ENIGMA (NCT04427163)
- Testing
- Blood sample analysis, Health status, Race and ethnicity
- Where
- Czechia
- Volunteers
- 1,100 people, healthy volunteers welcome
- Sponsor
- The Institute of Molecular and Translational Medicine, Czech Republic
Rheumatoid Arthritis
The Genetic and the Functional Study of DNA Repair System and the Susceptibility to Rheumatoid Arthritis
This study is valuable for the understanding the role of DNA repair system plays in the progression of rheumatoid arthritis and for the development of new therapeutic modality in the future.
- Trial name
- NCT01285336
- Where
- Taiwan
- Volunteers
- healthy volunteers welcome
- Sponsor
- China Medical University Hospital
Alcohol Use Disorder
Understanding Genetic Risk for Alcohol Use Disorder
The purpose of this study is to evaluate an online educational tool that will help individuals better understand alcohol use disorder, risk factors, and genetic risk information and to better understand participant's beliefs…
- Trial name
- NCT05143073
- Testing
- Alcohol use disorder and strategies to reduce risk educational material, Complex polygenic risk scores, alcohol use disorder, and strategies to reduce risk educational material
- Where
- United States
- Volunteers
- 338 people, healthy volunteers welcome
- Sponsor
- Virginia Commonwealth University
Pheochromocytoma, Paraganglioma
Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous.
- Conditions
- Pheochromocytoma, Paraganglioma, Inherited Cancer Syndrome, Associated Conditions
- Trial name
- NCT03160274
- Testing
- Genetic screening
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center at San Antonio
Primary Pulmonary Lymphoepithelioma-like Carcinoma
The Chinese Pulmonary Lymphoepithelioma-like Carcinoma Collaboration Study
This retrospective case-control study aims to investigate the genetic mechanisms of primary Pulmonary Lymphoepithelioma-like Carcinoma, identify genetic susceptibility loci associated with its onset, and explore potential…
- Trial name
- CPLCC (NCT06801977)
- Testing
- Genome-wide genotyping
- Where
- 2 sites in China
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Sun Yat-sen University