Clinical trials: Genetic Variation
Obesity, Metabolic Syndrome
Genetics of Obesity in Chinese Youngs
The purpose of this study is to explore the pathogenesis and genetic susceptibility of obese subjects,providing a convincing argument for further treatment of obesity and metabolic syndrome.
- Trial name
- GOCY (NCT01084967)
- Where
- China
- Volunteers
- 8,000 people, healthy volunteers welcome
- Sponsor
- Shanghai Jiao Tong University School of Medicine
Overactive Bladder
Urinary Neurotrophin Levels in Healthy Children
The aim of this study is to analyse urinary neurotrophin levels in healthy children. Urine samples will be collected at 3 different times of day (morning, noon, and evening) at urge sensation from all age groups of children who…
- Trial name
- NCT02389270
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Zagreb
Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy
DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies
The goal of this observational study is to investigate whether the type, location, and extent of pathogenic variants in the DMD gene are associated with cardiac dysfunction in male children, adolescents, and young adults with…
- Conditions
- Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy, Cardiomyopathy
- Trial name
- NCT07515235
- Where
- Greece
- Volunteers
- 65 people
- Sponsor
- Aristotle University Of Thessaloniki
Colorectal Cancer
Implication of Genetic Variations in Long Intergenic Non-coding RNA 00511 (LINC00511) in Colorectal Cancer
As, there is a lack of information about the association between LINC00511 SNP(s) variants and CRC susceptibility, so this study was undertaken to address whether these SNPs would increase CRC risk or could predict its prognosis.
- Trial name
- NCT06534242
- Where
- Egypt
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Ain Shams University
Diabetic Nephropathy
Sex-specific Association With Kidney Disease
Oxidative stress is involved in the pathophysiology of diabetic nephropathy. The superoxide-generating nicotinamide adenine dinucleotide phosphate-oxidase 2 (NOX2, encoded by the CYBB gene) and the antioxidant enzyme glutathione…
- Trial name
- NCT01810822
- Where
- Brazil
- Volunteers
- 1,396 people
- Sponsor
- University of Sao Paulo General Hospital
ALL, Childhood, Pediatric Cancer
Pharmacogenomic Association Study in Indian Children With Acute Lymphoblastic Leukemia
A five-year prospective observational cohort study. The study is focused on observing the relation between static germline variants and therapeutic response in Indian children with acute lymphoblastic leukemia (ALL).
- Conditions
- ALL, Childhood, Pediatric Cancer, Toxicity, Drug, Adverse Drug Event
- Trial name
- MPGx-INDALL (NCT05512169)
- Where
- 2 sites in India
- Volunteers
- 556 people
- Sponsor
- University of Geneva, Switzerland
Glioma, Molecular Sequence Variation
Survival Significance of Molecular Pathology and Genetic Variation in Brain Gliomas
This study aims to collect clinical, radiological, pathological, molecular and genetic data including detailed clinical parameters, MR and histopathology images, molecular pathology and genetic data.
- Conditions
- Glioma, Molecular Sequence Variation, Genetic Change
- Trial name
- NCT04216537
- Testing
- Glioma groups based on molecular pathology or genetic variation
- Where
- China
- Volunteers
- 3,000 people
- Sponsor
- The First Affiliated Hospital of Zhengzhou University
Cardiovascular Diseases
The BRAVE Study- The Identification of Genetic Variants Associated With Bicuspid Aortic Valve Using a Combination of Case-control and Family-based Approaches.
Bicuspid aortic valve (BAV) is the most common congenital heart anomaly in the general population (1-2% of all individuals). In affected people, the aortic valve (the structure ensuring one way blood flow between the heart's left…
- Trial name
- BRAVE (NCT04514445)
- Testing
- Observational
- Where
- 4 sites in United Kingdom
- Volunteers
- 700 people
- Sponsor
- University Hospitals, Leicester
Klinefelter Syndrome
Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment
This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about body composition (muscle and fat) and male hormones and look at the effect of testosterone shots on body composition.
- Trial name
- NCT02408445
- Testing
- testosterone cypionate 200mg/ml
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Colorado, Denver
16P11.2 Deletion Syndrome, 16p11.2 Duplications
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism.
- Conditions
- 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder)
- Trial name
- NCT01238250
- Where
- 2 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Simons Searchlight
Obesity
Study to Investigate Genetic Causes of Severe Early Childhood Onset Obesity.
This study aims to investigate genetic causes of early childhood obesity. The investigators will enroll children and adults with severe early onset obesity (BMI > 99th percentile) diagnosed prior to 6 years of age.
- Trial name
- GECO (NCT01998750)
- Where
- 2 sites in United States
- Volunteers
- 500 people
- Sponsor
- Columbia University
DAO Genetic Variants
Prevalence of DAO (diamino Oxidase) Deficiency in Newborns
Observational study to estimate the prevalence of genetic DAO deficiency in the population.
- Trial name
- DAO-NEO-2022 (NCT06710366)
- Where
- Spain
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- AB Biotek
Diabetes Mellitus, Monogenic Diabetes
Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)
This observational 'recruit by genotype' study aims to provide insights into the cellular and molecular pathways underlying beta cell disorders and their physiological consequences.
- Conditions
- Diabetes Mellitus, Monogenic Diabetes, Hyperinsulinism
- Trial name
- ENDURE (NCT06478121)
- Testing
- Data and Blood collection, MRI
- Where
- United Kingdom
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Exeter
Lichen Sclerosus Lesion
Identification of Genetic Variants Associated With Lichen Sclerosus
Lichen Sclerosus (LS) is a common genital skin condition that severely impacts on daily living. LS occurs worldwide but may be more common in the white population.
- Trial name
- GENITALS (NCT07720830)
- Testing
- No Interventions
- Where
- Switzerland
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Gudula Kirtschig
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
Blood Platelet Disease
Study of Constitutional Platelet Disease
Platelets are circulating blood cells. They bind to each other and to the wall of the damaged vessel to prevent excessive blood loss.
- Trial name
- EVGPP (NCT04419987)
- Testing
- draw blood
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Assistance Publique Hopitaux De Marseille
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Polycystic Kidney Disease 1 (PKD1) Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease
The purpose of this study is to estimate the prevalence, demographic, and clinical characteristics of PKD1/2 gene variant groups in the ADPKD population.
- Trial name
- NCT06747572
- Where
- 45 sites in United States, Belgium and 7 more
- Volunteers
- 401 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Klinefelter Syndrome, 47,XXY
Cardiometabolic Profiles of Boys With Klinefelter Syndrome
This study plans to learn more about how to measure the way the the body's energy system works in boys with Klinefelter syndrome, including the heart, lungs, muscles, and liver.
- Conditions
- Klinefelter Syndrome, 47,XXY, Sex Chromosome Aneuploidy, XXY Syndrome
- Trial name
- NCT02723305
- Testing
- No intervention
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- University of Colorado, Denver
Sickle Cell Anemia, Sickle Cell Thalassemia
Investigating the Mechanistic Effects of Mitapivat in Subjects With Sickle Cell Disease
Background: Sickle cell disease (SCD) is an inherited blood disorder. The disease affects the ability of red blood cells to carry oxygen; this in turn can injure organs including the heart, lungs, and kidneys.
- Conditions
- Sickle Cell Anemia, Sickle Cell Thalassemia, Sickle Cell Pain, Hbss
- Trial name
- NCT05675436
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Mucopolysaccharidosis IH
Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant
This is a phase I/II study evaluating safety and efficacy of autologous hematopoietic stem and progenitor cells genetically modified with IDUA lentiviral vector encoding for the human α-L-iduronidase gene for the treatment of…
- Trial name
- TigetT10_MPSIH (NCT03488394)
- Testing
- Frozen autologous CD34+ hematopoietic stem and progenitor cells genetically modified with the lentiviral vector IDUA LVV, encoding for the α-L-iduronidase cDNA, in their final formulation medium.
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Orchard Therapeutics