Clinical trials: Polymorphism-Genetic
Pain, Genetic Change
COMT and OPRM1 Polymorphisms and Their Effect on Post-Operative Pain in Children
The goal of this observational study is to investigate whether the A118G single-nucleotide polymorphism (SNP) in the mu-opioid receptor1(OPRM1) and Catechol-O-methyltransferase (COMT) SNPs influence postoperative pain scores in…
- Conditions
- Pain, Genetic Change, Children, Only
- Trial name
- NCT06777875
- Where
- Lebanon
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- American University of Beirut Medical Center
Alzheimer's Disease
Effect of REST in the Alzheimer Disease Continuum
The investigators assume that REST gene polymorphism affects REST protein concentration, and REST protein concentration in peripheral blood is related to cognitive function and hippocampus.
- Trial name
- ERADC (NCT03884023)
- Where
- China
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Dongzhimen Hospital, Beijing
Coronary Arteriosclerosis, Cardiovascular Diseases
Apolipoprotein A-I Gene Polymorphism and Atherosclerosis
To further define the linkage of the Apo A-I gene polymorphism to genetic high density lipoprotein (HDL) deficiency and premature coronary artery disease.
- Conditions
- Coronary Arteriosclerosis, Cardiovascular Diseases, Heart Diseases, Atherosclerosis
- Trial name
- NCT00005183
- Sponsor
- Tufts University
Children With a Deficiency of Alpha-1 Antitrypsin
Polygen Defi-Alpha: Genetic Polymorphisms Study in Children With Alpha-1 Antitrypsin Deficiency, Included in the DEFI-ALPHA Cohort
The deficiency of alpha-1 antitrypsin (DA1AT) is a genetic disorder of variable clinical expression, initially described in adults with pulmonary emphysema patients.
- Trial name
- Polygen (NCT01862211)
- Testing
- blood sampling
- Where
- 20 sites in France
- Volunteers
- 296 people
- Sponsor
- Hospices Civils de Lyon
Adolescent Idiopathic Scoliosis, Single Nucleotide Polymorphisms
Investigation of LBX1, TIMP2, GPR126 and CHD7 Gene Polymorphisms in Adolescent Idiopathic Scoliosis Patients
Adolescent Idiopathic Scoliosis (AIS) is a common disease of the spine observed in individuals aged 10-18 who typically do not have any other health issues.
- Trial name
- NCT06540924
- Testing
- single nucleotide polymorphisms
- Where
- Turkey (Türkiye)
- Volunteers
- 301 people, healthy volunteers welcome
- Sponsor
- Uludag University
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
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
Primary Ovarian Insufficiency, Cardiovascular Diseases
Associations of Combinations of Single-nucleotide Polymorphisms in Women With Premature Ovarian Failure
Research objective. To study the associations between combinations of single nucleotide polymorphisms and behavioural risk factors with non-communicable diseases and adverse outcomes in women with premature ovarian failure.
- Conditions
- Primary Ovarian Insufficiency, Cardiovascular Diseases, Menopause, Premature, Coronary Disease
- Trial name
- NCT04943354
- Testing
- Taking a person's venous blood
- Where
- Russia
- Volunteers
- 238 people, healthy volunteers welcome
- Sponsor
- Ryazan State Medical University
Delayed Puberty
Delayed Puberty in Boys; Clinical and Biochemical Characteristics and Effect of Testosterone Treatment
To evaluate the phenotype and biochemical characteristics of boys referred for delayed puberty, to describe the frequency of associated co-morbidities and diseases, to evaluate the diagnostic criteria and the effect of…
- Trial name
- NCT02034487
- Testing
- retrospective data collection
- Where
- Denmark
- Volunteers
- 451 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Chronic Obstructive Pulmonary Disease
Genetic Polymorphism in Matrix Metalloproteinase 9 in Chronic Obstructive Pulmonary Disease in Sohag University Hospital.
Chronic obstructive pulmonary disease (COPD) is a heterogeneous and complex disease with multiple clinical presentations or phenotypes and remains a highly prevalent condition, causing significant morbidity and mortality…
- Trial name
- NCT06503315
- Where
- Egypt
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Sohag University
Psuedomas Infection, Cystic Fibrosis
The Role of Bacteria and Genetic Variations in Cystic Fibrosis
This study will examine 1) the role of hereditary factors in cystic fibrosis; i.e., the relationship of the disease to specific gene variations, and 2) the role of bacterial products involved in lung infections substances…
- Trial name
- NCT00043225
- Where
- 4 sites in United States
- Volunteers
- 76 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Childhood Cancer, Genetic Predisposition
Genetic Risks for Childhood Cancer Complications in Switzerland
The objectives of the GECCOS project are to identify genetic variants associated with complications of childhood cancer using genotype-phenotype association studies.
- Conditions
- Childhood Cancer, Genetic Predisposition, Late Effect
- Trial name
- GECCOS (NCT04702321)
- Testing
- Procedure: Biospecimen Collection, Procedure: Medical Chart Review
- Where
- Switzerland
- Volunteers
- 6,000 people
- Sponsor
- University Hospital, Geneva
Polycystic Ovary Syndrome
71A/G HSD17B5 SNP and Effects of Oral Contraceptive Pill in PCOS Women
An association of the single nucleotide polymorphism (SNP) in the promoter gene that codify for 17b-HSD5 enzyme (71A>G) with polycystic ovary syndrome (PCOS) and hyperandrogenemia has been suggested in previous studies.
- Trial name
- 17b-ACO (NCT01372293)
- Testing
- oral contraceptive pill
- Volunteers
- 49 people
- Sponsor
- Federal University of Rio Grande do Sul
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
Fabry, Renal Disease
Relation Between Polymorphism in Genes Related to Kidney Disease and Renal Manifistations in Fabry Disease
The rational of the study is to try to predict which of the patients who suffer from Fabry disease will have End Stage Renal Disease.
- Trial name
- NCT00437944
- Volunteers
- healthy volunteers welcome
- Sponsor
- Shaare Zedek Medical Center
Attention Deficit Hyperactivity Disorder
Genetic Polymorphism and OROS-Methylphenidate Treatment in Attention Deficit Hyperactivity Disorder(ADHD)
The purpose of this study is to examine whether genetic polymorphisms in drug transporters were associated with the side effects of OROS-methylphenidate medication in attention deficit/hyperactivity disorder(ADHD).
- Trial name
- NCT00842127
- Testing
- OROS-methylphenidate (Concerta)
- Where
- South Korea
- Volunteers
- 150 people
- Sponsor
- Bundang CHA Hospital
AIDS
The Effects of Genetic Differences Among AIDS Patients on Cytomegalovirus Retinitis
This study will evaluate the role of certain gene variants on the onset and course of cytomegalovirus (CMV) retinitis-a severe infection affecting the eye-in patients with AIDS.
- Trial name
- NCT00341172
- Where
- United States
- Volunteers
- 2,232 people
- Sponsor
- National Cancer Institute (NCI)
Genetic Blood Group (bg) Polymorphism in U Negativity and St(a) of MNSs
Whole Genome Sequencing for Blood Group Genotyping and Definition as Exemplified on U- and St(a)+.
No health condition(s) are studied. Genetic background of blood groups is studied. U- and Stones(a)+ ("Caucasian type") are used as proof-of-principle samples.
- Trial name
- Blood Genome (NCT02534519)
- Testing
- Whole Genome Sequencing (WGS)
- Where
- Switzerland
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Blood Donation Service Zurich, SRC
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)
Pediatric Non-Hodgkin Lymphoma
A Retrospective Cohort Study: Influence of MTHFR C677T and A1298C Polymorphisms on the Survival of Pediatric Patients With Non-Hodgkin's Lymphoma
The primary purpose of this retrospective study was to investigate the influence of methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphism on the survival of pediatric patients with Non-Hodgkin lymphoma (NHL)…
- Trial name
- NCT04469543
- Where
- China
- Volunteers
- 374 people
- Sponsor
- Sun Yat-sen University