Clinical trials: Genetics Predisposition
Indirect Inguinal Hernia, Genetic Predisposition to Disease
Gene Expression and DNA Variation Analysis of Sacs to Identify the Pathophysiology of Indirect Inguinal Hernia
The aim of the project is to show that gene expression levels change in at least one of the GATA6 and T-box transcription factor 3 (TBX3) genes in indirect inguinal hernia sacs, thus revealing that this pathway causes an error in…
- Trial name
- NCT04634032
- Testing
- mRNA expression and SNP analysis, Blood sampling
- Where
- Turkey (Türkiye)
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Trakya University
Hyperlipidemia, Familial Combined, Coronary Disease
Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals
Familial combined hyperlipidemia (FCHL) is an inherited disorder characterized by elevated levels of cholesterol and triglycerides; it often occurs in Mexican individuals with coronary heart disease (CHD).
- Trial name
- NCT00365235
- Where
- Mexico
- Volunteers
- 998 people, healthy volunteers welcome
- Sponsor
- University of California, Los Angeles
Colorectal Cancer
Study of Genes and the Environment in Patients With Colorectal Cancer in the East Anglia Region of the United Kingdom
RATIONALE: Studying samples of blood from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT00757965
- Testing
- polymorphism analysis, laboratory biomarker analysis, questionnaire administration
- Where
- United Kingdom
- Volunteers
- 2,000 people
- Sponsor
- Cancer Research UK
Case-control Study
GENETIC SUSCEPTIBILITY FACTOR AS A PREDICTOR OF TYPE 2 DIABETES REMISSION AND WEIGHT LOSS AFTER BARIATRIC SURGERY
Obesity is directly related to an increased risk of diabetes mellitus, hypertension, dyslipidemia, cardiovascular disease, and overall mortality. Weight loss is effective in decreasing these risks and to reduce disease severity.
- Trial name
- OBEGEN (NCT02405949)
- Testing
- Genetic test
- Where
- Spain
- Volunteers
- 100 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
Toxoplasmosis Infection, Genotype II
Determination of Genetic Susceptibility in Severe Recurrences of Ocular Toxoplasmosis
Ocular toxoplasmosis (OT) is a major cause of visual impairment worldwide. OT is responsible for 30 to 50% of posterior uveitis.
- Conditions
- Toxoplasmosis Infection, Genotype II, Ocular Toxoplasmosis With Recurrences
- Trial name
- TREXO (NCT02863588)
- Testing
- seropositive for Toxoplasma gondii
- Where
- France
- Volunteers
- 16 people
- Sponsor
- University Hospital, Strasbourg, France
Neoplastic Syndromes, Hereditary, Cancer
Cancer Predisposition Testing by Family-based Whole-genome Sequencing (WGS) in Every Child With Newly Diagnosed Cancer
Assessment of the utility of family-based (trio) whole-genome sequencing for cancer predisposition testing in sequential newly diagnosed paediatric and adolescent cancer patients
- Conditions
- Neoplastic Syndromes, Hereditary, Cancer, Genetic Predisposition to Disease
- Trial name
- PREDICT (NCT04903782)
- Testing
- Family-based whole genome sequencing
- Where
- 3 sites in Australia
- Volunteers
- 270 people
- Sponsor
- Sydney Children's Hospitals Network
Breast Cancer, Cognitive Ability, General
Genetic Susceptibility to Radiation-Induced Skin Reactions in Racial/Ethnic Groups of Patients With Breast Cancer
RATIONALE: Radiation therapy uses high-energy x rays to kill tumor cells. Radiation therapy may cause skin reactions when patients are exposed to high-energy x rays.
- Conditions
- Breast Cancer, Cognitive Ability, General, Fatigue, Pain
- Trial name
- NCT01407770
- Testing
- DNA analysis, gene expression analysis, enzyme-linked immunosorbent assay
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Wake Forest University Health Sciences
Prostate Cancer
Analysing Outcomes After Prostate Cancer Diagnosis and Treatment in Carriers of Rare Germline Mutations
GENPROS aims to analyse the outcomes of patients with rare gene mutations in the cancer predisposition genes, BRCA1, BRCA2, HOXB13, and Lynch Syndrome, after a diagnosis of and treatment for prostate cancer (PCa).
- Trial name
- GENPROS (NCT02705846)
- Testing
- Observation of treatment outcomes via Questionnaire
- Where
- United Kingdom
- Volunteers
- 4,260 people
- Sponsor
- Institute of Cancer Research, United Kingdom
Genes, Sporadic Chordoma
Genetic Clues to Chordoma Etiology: A Protocol to Identify Sporadic Chordoma Patients for Studies of Cancer-Susceptibility Genes
Background: Chordoma is a rare, slow growing, often fatal bone cancer derived from remnants of the embryonic notochord. It occurs mostly in the axial skeleton (skull base, vertebrae, sacrum and coccyx), is more frequent in males…
- Trial name
- NCT01200680
- Where
- United States
- Volunteers
- 188 people
- Sponsor
- National Cancer Institute (NCI)
Genetic Polymorphisms
NIEHS/UNC Environmental Polymorphism Study
The Environmental Genome Project (EGP) has completely or partially resequenced the protein coding and regulatory regions of 53 environmentally sensitive genes from 72 anonymous individuals of varying ethnic backgrounds to date.
- Trial name
- NCT00340886
- Where
- United States
- Volunteers
- 485 people
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Alzheimer Disease
Risk Evaluation and Education for Alzheimer's Disease (REVEAL) II
The REVEAL II study provides healthy adult children and siblings of Alzheimer's disease patients with genetic testing and information about their own chances of developing the disease.
- Trial name
- NCT00089882
- Testing
- APOE Genetic susceptibility testing
- Where
- 4 sites in United States
- Volunteers
- 360 people, healthy volunteers welcome
- Sponsor
- National Institute on Aging (NIA)
Hypertension, Genetic Predisposition
Pharmacogenetics of Torasemide and Spironolactone in Hypertension Treatment
Phase III interventional study to evaluate the different efficacy of Torasemide and Spironolactone in reducing systolic blood pressure in carriers and non-carriers of the different genotypic combinations for Lanosterol and…
- Conditions
- Hypertension, Genetic Predisposition, Drug Effect
- Trial name
- ALTUM (NCT06413082)
- Testing
- Torasemide, Spironolactone
- Where
- 2 sites in Italy
- Volunteers
- 38 people
- Sponsor
- Ospedale San Raffaele
Dental Caries
Study of Factors of Genetic Susceptibility Associated to Severe Caries Phenotype
Alteration of the post- eruptive enamel microstructure due to a mutation of a gene coding for a matrix protein could increase the susceptibility of the enamel to caries after tooth eruption.
- Trial name
- Cariogene (NCT00541060)
- Testing
- mutation
- Where
- France
- Volunteers
- 390 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cystic Fibrosis
Modulation by Sex Hormones of Inflammation and Susceptibility to Pseudomonas Aeruginosa in Cystic Fibrosis Airways
The general objective is to elucidate the mechanisms whereby sex hormones may modulate the severity of respiratory disease. An important component of this proposal is a systematic and intensive approach to characterize how the…
- Trial name
- NCT00700050
- Testing
- Hypertonic saline
- Where
- Canada
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- The Hospital for Sick Children
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
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
Intracranial Aneurysm
Genetic Analysis of Familial Brain Aneurysms
This study will investigate cerebral (brain) aneurysms and their possible inheritance patterns in families. It will try to determine how often brain aneurysms occur in families in which more than one member has had an aneurysm…
- Trial name
- NCT00011856
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Prostate Cancer
A Tailored Polygenic Risk Score for Predicting Progression in Prostate Cancer Under Active Surveillance
Prostate cancer is the most common malignancy in men, and in patients with low-risk disease, active surveillance represents the preferred initial approach to avoid unnecessary treatments.
- Trial name
- PRS-AS (NCT07491406)
- Where
- Italy
- Volunteers
- 185 people
- Sponsor
- IRCCS San Raffaele
Parkinson, Parkinson Disease
Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers
Every year, approximately 9,000 Parkinson disease (PD) patients undergo deep brain stimulator (DBS) placement into the subthalamic nucleus (STN-DBS).
- Conditions
- Parkinson, Parkinson Disease, Genetic Predisposition, GBA Gene Mutation
- Trial name
- NCT03234478
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Rutgers, The State University of New Jersey
Bladder Cancer, Urinary Cancer
Genetic Susceptibility to Tumor Recurrence and Progression in Patients With Non-Muscle Invasive Bladder Cancer
The purpose of the study is to see if we will be more able to tell what the risk is for bladder cancer to reoccur or worsen when genetics and risk factors are examined along with the stage and grade of the tumor.
- Conditions
- Bladder Cancer, Urinary Cancer, Nonmuscle Invasive Bladder Cancer
- Trial name
- NCT00582387
- Testing
- specimen samples, questionnaires
- Where
- United States
- Volunteers
- 116 people
- Sponsor
- Memorial Sloan Kettering Cancer Center