Clinical trials: Polymorphism
Status Asthmaticus
B2-Adrenergic Receptor Polymorphisms
Beta(2)-adrenergic receptor (BAR) agonists are the most important group of drugs used in the treatment of asthma. In children unresponsive to inhaled BAR agonist therapy, higher dose systemic BAR agonist therapy is frequently the…
- Trial name
- NCT00279786
- Testing
- Blood draw
- Where
- United States
- Volunteers
- 126 people
- Sponsor
- Connecticut Children's Medical Center
Non-alcoholic Fatty Liver Disease, Obesity
The Influence of Autophagy on Fatty Liver
Non-alcoholic fatty liver disease (NAFLD) is one of the most common causes of chronic liver disease worldwide. It is not known why only some obese subjects develop NAFLD.
- Trial name
- NCT01988441
- Where
- Taiwan
- Volunteers
- 800 people
- Sponsor
- Far Eastern Memorial Hospital
Epilepsy
Population Pharmacokinetics of Antiepileptic in Pediatrics
The purpose of this study is to develop population pharmacokinetic models for antiepileptic drugs in a pediatric population. The interest of these models is multiple: describe the pharmacokinetics of these molecules in children…
- Trial name
- EPIPOP (NCT03196466)
- Testing
- Valproic acid, carbamazepine, phenobarbital
- Where
- France
- Volunteers
- 753 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Gastroesophageal Reflux
Randomized Trial for Pharmacogenomics-based Proton Pump Inhibitor Therapy in Children
Proton pump inhibitors are administered to children as off-label use in Japan. The purpose of this study is to evaluate the effects of CYP2C19 genotypes on pharmacokinetic /pharmacodynamic profiles of PPI in children.
- Trial name
- NCT00299845
- Testing
- Lansoprazole
- Where
- Japan
- Sponsor
- Osaka University
Generalized Aggressive Periodontitis, Chronic Periodontitis
Evaluation of Possible Genes in Periodontal Diseases by Genetic Methods
Generalized aggressive Periodontitis (GAgP) and chronic periodontitis (CP) are inflammatory diseases. Little is known about molecular changes and signaling cascade of host response.
- Trial name
- NCT04026828
- Testing
- Periodontitis Group
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Kocaeli University
ITP - Immune Thrombocytopenia
"Cytotoxic T Lymphocyte-Associated Antigen-4 (CTLA-4) Gene Single-nucleotide Polymorphism in Primary Immune Thrombocytopenic Purpura in Children"
the investigators aim in this study to investigate the potential association of single gene polymorphisms of CTLA-4 (SNPs; rs: 3087243) using real-time PCR in children with primary ITP.
- Trial name
- ITP (NCT07014904)
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Sohag University
Blastomycosis
Evaluation of the Association of Polymorphisms in the Innate Immune System With the Risk for Blastomycosis Dermatitidis Infection in Patients Not Infected With HIV and Complications Associated With Blastomycosis Dermatitidis Infection
Innate immunity plays an important role for fungal recognition and initiation of fungicidal activity. We hypothesize that subtle differences in different molecules of innate immunity may contribute to either the predisposition or…
- Trial name
- NCT00001702
- Where
- 2 sites in United States
- Volunteers
- 400 people
- Sponsor
- National Cancer Institute (NCI)
Atherosclerosis, Cardiovascular Diseases
Understanding the Genetic and Hereditary Basis of Atherosclerosis
Atherosclerosis is a condition that occurs when fatty deposits build up along the inner walls of arteries. New strategies are needed to prevent and treat atherosclerosis.
- Trial name
- NCT00344292
- Where
- 4 sites in United States
- Volunteers
- 2,763 people
- Sponsor
- Wake Forest University Health Sciences
Inherited Cardiac Arrhythmias, Long QT Syndrome
Long Term Monitoring for Risk of Sudden Death
Risk prediction in in inherited heart rhythm conditions that may cause sudden cardiac arrest or death is difficult. Sometimes the risks may be low but the loss of life in an otherwise healthy young individual is catastrophic.
- Conditions
- Inherited Cardiac Arrhythmias, Long QT Syndrome, Arrhythmogenic Right Ventricular Cardiomyopathy, Brugada Syndrome
- Trial name
- NCT04124237
- Where
- Canada
- Volunteers
- 1,051 people
- Sponsor
- University of British Columbia
Genetic Polymorphism Connected to Top-level Swimmers
Genetic Polymorphism and Israeli Top-level Swimmers' Performance and Expertise
In a study conducted in our laboratory few years ago, we genotyped 22 genes in 2 athletic groups (endurance and sprinters) and in age and gender matched nonathletic controls.
- Trial name
- NCT01319032
- Testing
- Extraction of whole blood
- Where
- Israel
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Hillel Yaffe Medical Center
Hemophilia, AIDS
Host Genetic Factors Influencing HIV1 and HCV Viral Loads and AIDS Clinical Progression in a Hemophilia Cohort (HGDS-3)
Background: Over 80% of the hemophiliac population who became infected with HIV prior to 1985 are also co-infected with HCV. Thus, hemophiliacs represent an important population for studies of the natural history of these chronic…
- Trial name
- NCT00340548
- Where
- 15 sites in United States
- Volunteers
- 333 people
- Sponsor
- National Cancer Institute (NCI)
Long QT Syndrome, Brugada Syndrome
Physical Activity in Children With Inherited Cardiac Diseases
Use lay language. Current guidelines regarding physical activity in patients with inherited arrhythmia and cardiomyopathy are mostly dedicated to adult patients, with a special focus on sports competition.
- Conditions
- Long QT Syndrome, Brugada Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Hypertrophic Cardiomyopathy
- Trial name
- NCT04650009
- Where
- France
- Volunteers
- 28 people
- Sponsor
- University Hospital, Montpellier
Aortic Dissection
A Validation Study of The Relationship Between ALDH2 and Aortic Dissection
The purpose of this study is to validate the impact of ALDH2 Glu504Lys polymorphism on aortic dissection.
- Trial name
- VaRALAD (NCT03780738)
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Qilu Hospital of Shandong University
Asthma
Investigating Dupilumab's Effect in Asthma by Genotype
The Goal of this study is to investigate if individuals ages 12 years and older, carrying the IL-4RαR576 gene variant, will have a greater response to therapy acting directly on the anti-IL-4R.
- Trial name
- IDEA (NCT03694158)
- Testing
- Dupilumab
- Where
- 6 sites in United States
- Volunteers
- 150 people
- Sponsor
- Boston Children's Hospital
Infections
The Role of Genetic Polymorphisms in Innate Immune Response Genes in Susceptibility to Infections
The purpose of this study is to better understand genetic susceptibility to infections and the interactions of specific genetic polymorphisms of innate immune receptors with microbial and fungal organisms.
- Trial name
- NCT00597090
- Where
- United States
- Volunteers
- 319 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Molar-Incisor Hypomineralization
Single Gene Polymorphisms Associated With Molar-Incisor Hypomineralization
The genetic factors associated with Molar-Incisor Hypomineralization (MIH), a dental condition affecting permanent molars in individuals aged 8-13.
- Trial name
- NCT06165055
- Testing
- DNA Sample Collection + DNA genotyping
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Marmara University
Glioma
The Role of Gene Changes in Brain Tumor Formation and Growth
This study will examine tissue from gliomas (a type of brain tumor) removed during surgery for gene mutations, or changes, thought to be involved in tumor formation and growth.
- Trial name
- NCT00059020
- Where
- United States
- Volunteers
- 344 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Epilepsy
SCN2A Polymorphisms Are Associated With Response to Valproic Acid in Paediatric Population(Pakistan)
The goal of this Observational study was to identify the effect of SCN2A gene polymorphism in the Paediatric epileptic Pakistani population.
- Trial name
- NCT06674070
- Testing
- Valproic Acid
- Where
- Pakistan
- Volunteers
- 200 people
- Sponsor
- Riphah International University
Bone Marrow Diseases
Cytokine Gene Polymorphisms in Bone Marrow Failure
This study will examine whether cytokine gene polymorphisms affect the progression or response to therapy of bone marrow failure disorders.
- Trial name
- NCT00085670
- Where
- United States
- Volunteers
- 79 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Glucocorticoid Resistance, Gene
Association Between the Effect of Glucocorticoid Pulse Therapy on Neuromyelitis Optica (NMO) and Gene Polymorphism
Aims of this study are to observe the correlation between ABCB1、VDR、TBX21、NR3C1 and other gene polymorphisms and the effect of glucocorticoid shock therapy on neuromyelitis optica.
- Conditions
- Glucocorticoid Resistance, Gene, Neuromyelitis Optica
- Trial name
- NCT04601142
- Testing
- Methylprednisolone
- Where
- China
- Volunteers
- 350 people
- Sponsor
- Beijing Tongren Hospital