Clinical trials: Genetics Predisposition
Graves' Disease
Genetic Polymorphisms Associated With Cigarette Smoking and Risk of Graves' Disease
Cigarette smoking is a well-recognized risk factor of Graves' disease and, particularly, Graves' ophthalmopathy. Hence, germline polymorphisms of detoxification genes and genes belonging to the major DNA repair/apoptosis pathways…
- Trial name
- NCT00505011
- Volunteers
- 1,998 people, healthy volunteers welcome
- Sponsor
- University of Campinas, Brazil
Infectious Disease
Genetic Susceptibility to Severe Infections
Only a fraction of individuals infected with microbes develop clinical disease. This observation raises fundamental questions about the pathogenesis of infectious diseases.
- Trial name
- PREDISPOSITI (NCT06102070)
- Testing
- Blood samples drawing, Skin biopsy
- Where
- France
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder
Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
This is a research protocol that will examine Hematopoietic Stem Cell Transplantation (HSCT) using a reduced conditioning regimen (RIC) with total body Irradiation (TBI) in those diagnosed with Common Variable Immunodeficiency…
- Conditions
- Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome
- Trial name
- CVID/PIRD (NCT07284641)
- Testing
- Hematopoietic stem cell transplant (HSCT)
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Paul Szabolcs
Diabetes Mellitus, Diabetes Mellitus, Type 1
Genetic Risk Score of Type 1 Diabetes Mellitus for Progression to Insulin in Diabetic Patients Lack of Predictive Value: a Multicenter Nested Case-control Study
The goal of this observational study is to evaluate the predictive value of the genetic risk score for type 1 diabetes in the progression to insulin deficiency in diabetic patients. The main question it aims to answer is: 1.
- Trial name
- NCT07621445
- Where
- China
- Volunteers
- 2,950 people
- Sponsor
- Second Xiangya Hospital of Central South University
Asthma in Children, Genetic Disease
Association Between Genetic Polymorphisms and Type 2 Asthma in Children
To further understand the role of gene single nucleotide polymorphism (SNP) in the occurrence of type 2 inflammation-related asthma in children by analyzing the gene single nucleotide polymorphism (SNP), lung function and type 2…
- Conditions
- Asthma in Children, Genetic Disease, Inflammation
- Trial name
- SNP (NCT06840717)
- Where
- China
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Guangzhou Institute of Respiratory Disease
Atypical Femoral Fractures, Osteoporosis
Exome Sequencing for Atypical Femoral Fractures
The purpose of this study is to determine whether women who have atypical subtrochanteric and diaphyseal femoral fractures after treatment with bisphosphonates for osteoporosis, have a genetic predisposition to these unusual…
- Conditions
- Atypical Femoral Fractures, Osteoporosis, Bisphosphonate Therapy
- Trial name
- NCT02731040
- Testing
- Bisphosphonate
- Volunteers
- 38 people
- Sponsor
- Washington University School of Medicine
Genetic Predisposition, Cancer
Genetic Investigation of Cancer Predisposition
Clinical information and samples (blood, saliva, and tumor) will be collected from patients with multiple cancers and/or a family history of cancer as well as from affected and unaffected relatives; samples will be systematically…
- Trial name
- NCT04620278
- Testing
- DNA or RNA Sequencing
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- The University of Texas Health Science Center at San Antonio
Rare Diseases, Genetic Predisposition
Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics
The MiDiSeq project will enroll 20 unresolved index patients with suspected mitochondrial disease prioritized for genomic analysis.
- Trial name
- NCT03962452
- Testing
- Next Generation Sequencing (NGS)
- Where
- Germany
- Volunteers
- 20 people
- Sponsor
- University Hospital Tuebingen
Pseudotumor Cerebri, Cystinosis
The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study
This study will examine whether the tendency to have thrombosis, or the formation of blood clots inside blood vessels, has a role in the development of pseudotumor cerebri (PTC).
- Trial name
- NCT00071903
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Listeriosis
Genetic Susceptibility to Listeriosis
Listeriosis is a rare, severe foodborne infection, responsible for severe invasive infections. It occurs in the great majority of cases in elderly patients and / or patients with comorbidities, with a deficit of innate or…
- Trial name
- Listeria-GEN (NCT03357536)
- Testing
- Human biological samples
- Where
- France
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Institut Pasteur
Predisposition, Genetic, Cancer Childhood
EXOme Rare Cancers in Children (EXOCARE)
Other than high-dose radiation and previous chemotherapy, few strong risk factors have been identified as causes of childhood cancer.
- Conditions
- Predisposition, Genetic, Cancer Childhood, Development Delay
- Trial name
- EXOCARE (NCT03472807)
- Testing
- Collection of blood sample or saliva, Collection of a tumor sample taken before the participation of the patient in study, Collection of blood sample if tumor sample is not available
- Where
- 27 sites in France, Reunion
- Volunteers
- 169 people
- Sponsor
- University Hospital, Angers
Atrial Fibrillation, Thrombosis
Association of Genetic Polymorphisms With Atrial Fibrosis and Thrombogenic Substrate in Patients With Non-valvular Atrial Fibrillation
Atrial fibrillation (AF) is the most frequently encountered cardiac arrhythmia. Emerging data suggests that common genetic variants are associated with the development of AF.
- Conditions
- Atrial Fibrillation, Thrombosis, Stroke, Genetic Predisposition
- Trial name
- ANATOLI-AF (NCT03560219)
- Testing
- Biomarkers, Cardiac Magnetic Resonance Imaging, Echocardiography, Flow Mediated Dilatation, Genetic Analysis
- Volunteers
- 225 people
- Sponsor
- Memorial Ankara Hospital
Acute Lymphoblastic Leukemia (ALL)
Genetic Study of Familial Acute Lymphoblastic Leukemia
Familial aggregation is well recognized in some cancers. Though a number of familial cancer predisposition syndromes have been described, the nature of inherited genetic alterations in patients with a strong history of familial…
- Trial name
- NCT03067584
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- St. Jude Children's Research Hospital
Cannabis Use, Neurocognitive Dysfunction
Prospective Evaluation on Cognitive Function and Its Associated Genetic Vulnerability in Cannabis Users
Most of the studies assessing Cannabis Use Disorder (CUD) and neurocognitive functions are cross-sectional without examining the longitudinal changes in neurocognitive function at a within-subject level with respect to the…
- Conditions
- Cannabis Use, Neurocognitive Dysfunction, Genetic Predisposition
- Trial name
- SToP-C_PeCoG (NCT04373525)
- Testing
- Genome analysis
- Where
- Hong Kong
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- The University of Hong Kong
Diabetes Mellitus, Type 1
TRIGR - Primary Prevention Study for Type 1 Diabetes in Children at Risk
The Trial to Reduce IDDM in the Genetically at Risk (TRIGR) is an international effort to conduct a primary prevention nutrition trial for type 1 (insulin-dependent) diabetes.
- Trial name
- TRIGR (NCT00179777)
- Testing
- Hydrolysed infant formula, Nonhydrolysed infant formula
- Where
- 18 sites in United States, Australia and 13 more
- Volunteers
- 5,156 people
- Sponsor
- University of Helsinki
Fractures in Children, Apophysitis
Total Genotype Score, Growth, Maturation and Loading Exposure as Risk Factors for Injury in Elite Male Youth Football
A total genotype risk score was generated based on the findings of previous research for non-contact injury, non-contact muscle injury, tendon injury, ligament injury, fracture injury and apophysitis injury.
- Conditions
- Fractures in Children, Apophysitis, Muscle Strain, Ligament Injury
- Trial name
- NCT05220969
- Testing
- Total Genotype Risk Score
- Where
- 2 sites in United Kingdom
- Volunteers
- 95 people, healthy volunteers welcome
- Sponsor
- St Mary's University College
Newborn, Hereditary Disease
The China Neonatal Genomes Project
The project will carry out the genetic testing of 100000 neonates in the next 5 years. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic…
- Conditions
- Newborn, Hereditary Disease, Genetic Predisposition to Disease, Defect, Congenital
- Trial name
- CNGP (NCT03931707)
- Testing
- Genomic sequencing
- Where
- China
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Fudan University
Chronic Lung Disease
Genetic Variants and Susceptibility to Diseases of Prematurity in Very Low Birth-Weight Infants
The purpose of this study is to determine if sequence variations in genes involved in the development and function of vulnerable organs increases susceptibility to chronic lung disease (CLD) and other diseases affecting premature…
- Trial name
- CLD (NCT00710112)
- Testing
- gene variations
- Where
- United States
- Volunteers
- 1,100 people
- Sponsor
- Medical College of Wisconsin
Rare Diseases, Genetic Predisposition
Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"
The GENOME FIRST APPROACH project will enroll patients (n = 450) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and the healthy parents of those affected for trio…
- Trial name
- NCT03954652
- Testing
- WGS-Diagnostic
- Where
- Germany
- Volunteers
- 1,350 people
- Sponsor
- University Hospital Tuebingen
Cancer
Discovering New Genetic Markers in Adults and Children Who May Be At Risk for Hereditary Forms of Cancer
This study is being done to attempt to identify genetic mutations or other gene-based variations in adults and children who have cancer, or are likely to develop an inherited form of cancer, and potentially reduce their risk for…
- Trial name
- NCT03922893
- Testing
- Family History Information, ORAGENE, Blood
- Where
- 7 sites in United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center