Clinical trials: Gene Polymorphism
Crohn Disease, Pediatric Crohns Disease
Autophagy in Paediatric Crohn's Disease
Crohn's disease is a multifactorial complex disease resulting in a between microbiota and immune system. Indeed, GWAS (Genome-Wide Association Studies) association study pinpointed polymorphisms as genes susceptibility on more…
- Trial name
- P-IBDphagy (NCT05842564)
- Testing
- Blood samples, Biopsies
- Where
- France
- Volunteers
- 70 people
- Sponsor
- Hospices Civils de Lyon
Age-related Hearing Loss, Presbycusis
Genetic Study of Age Related Hearing Loss
Age-related hearing loss, or presbyacusis, is one of the most common chronically handicapped conditions for the elderly. Many factors including genetics, diet, diseases, drugs, socioeconomic factors and environmental variables…
- Trial name
- ARHL (NCT01732289)
- Testing
- genes
- Where
- Taiwan
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Catecholaminergic Polymorphic Ventricular Tachycardia
A Study of SGT-501 Gene Therapy in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
This is a Phase 1b, Multicenter, Open-Label, Dose Finding Study to Investigate the Safety and Tolerability of a Single Intravenous Dose of SGT-501 in participants with catecholaminergic polymorphic ventricular tachycardia (CPVT).
- Trial name
- ARTEMIS (NCT07148089)
- Testing
- SGT-501
- Where
- 5 sites in United States, Canada
- Volunteers
- 18 people
- Sponsor
- Solid Biosciences Inc.
Aggressive Periodontitis
Frequency Of MCP-1 And CCR2 Gene Polymorphisms And Its Effect On Gene Expression In Patients With AgP
The aim of this study is to estimate genetic impact of MCP-1 -2518 and its receptor CCR2 -190 polymorphisms on AgP patients among Turkish individuals and whether MCP-1 genotype effects mRNA levels of Peripheral Blood Mononuclear…
- Trial name
- NCT02817568
- Testing
- Drawing Blood
- Volunteers
- 215 people, healthy volunteers welcome
- Sponsor
- Abant Izzet Baysal University
Day-3 Positive of Parasitaemia, Prevalence of Drug Resistance Gene Mutation
Molecular Assessment of Artemisinin Resistance Markers in Eastern and Western Border Areas of Myanmar
Artemisinin resistance have been documented in Myanmar and Myanmar artemisinin resistance containment measures have been launched since 2009-2010.
- Trial name
- NCT02198573
- Where
- Burma
- Volunteers
- 91 people
- Sponsor
- Myat Htut Nyunt
COVID-19 Respiratory Infection
Gene Polymorphism of IL17 and IL 23
rates are in such considerable amount among large population base. The pathogenesis of COVID-19 implicates a potent inflammatory response, involving a complex group of mediators including interleukins.
- Trial name
- COVID 19IL17 (NCT04948515)
- Testing
- laboratory test
- Where
- Egypt
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Sohag University
Polymorphism, Genetic, Bacterial Infections
The Association of Gene Polymorphisms With Invasive Bacterial Infections in Neonates and Young Infants
Invasive bacterial infections (IBIs) are globally significant, with high mortality rates, particularly within the critical 0-3 month age bracket.
- Conditions
- Polymorphism, Genetic, Bacterial Infections, Infant
- Trial name
- NCT06985160
- Testing
- Specific single nucleotide polymorphisms
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Ege University
Autism Spectrum Disorder
Study of the Genetic Factors Involved in Autism and Related Disorders
The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development.
- Trial name
- Gene&autism (NCT04727489)
- Testing
- DNA from subjects will be stored in the biobank of our study.
- Where
- 6 sites in France
- Volunteers
- 3,800 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Gastric Cancer, Colo-rectal Cancer
Association Between ABO Polymorphism and Gastric/Colorectal Cancers
To assess ABO gene polymorphism (rs8176746) in the patients histopathologically confirmed gastric and/or colorectal cancers relative to healthy controls by real time PCR.
- Trial name
- NCT06149923
- Testing
- quantitative Real-time PCR
- Volunteers
- 184 people
- Sponsor
- Assiut University
STEMI, Microvascular Coronary Artery Disease
The 3q25 rs2305619 Polymorphism Associates With Microvascular Obstruction in STEMI
The investigators enrolled 217 patients with acute STEMI undergoing primary PCI. The rs2305619 polymorphism was evaluated by real time PCR and plasma PTX3 concentration was assessed by human PTX3 ELISA kit.
- Trial name
- NCT03907722
- Testing
- Long pentraxin 3
- Where
- Indonesia
- Volunteers
- 217 people
- Sponsor
- Indonesian Cardiovascular Research Center
Diabetes Mellitus, Healthy
Genetic Influence on Susceptibility to Type 1 Diabetes Mellitus
Type 1 diabetes mellitus is an autoimmune disease in which the body's immune cells attack the insulin-producing cells of the pancreas.
- Trial name
- NCT00001985
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Irritable Bowel Syndrome, Children
Immunological Change and the Single Nucleotide Polymorphism (SNP) in Children With Irritable Bowel Syndrome (IBS)
Currently, the pathophysiology of Irritable bowel syndrome( IBS) remains unclear . The purpose of this study is want to investigate the immunological changes in the children with IBS.
- Trial name
- NCT01131442
- Where
- Taiwan
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Chang Gung Memorial Hospital
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
Blastocystis Infections
Molecular Characterization of Blastocystis Isolates From Human by Restriction Fragment Length Polymorphism (RFLP) Analysis
Blastocystis is an anaerobic unicellular protozoal parasite infecting the gastrointestinal tract of humans and a wide range of animals.
- Trial name
- NCT05580393
- Testing
- RFLP analysis of SSU rRNA
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Sohag University
Breastfeeding, Exclusive
Profile of Human Milk Oligosaccharides and FUT2 Polymorphism of Mothers in Indonesia
Human milk oligosaccharides (HMOs), the third most abundant constituent of breastmilk, are known to have beneficial effects on infant immunity. Maternal genetic polymorphisms cause HMO variability.
- Trial name
- NCT05156255
- Where
- Indonesia
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Universitas Indonesia
Type 1 Diabetes Mellitus
Study of PTPN22 C1858T Polymorphism in Children and Adolescents of Greek Origin With T1DM
The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene encodes a lymphoid-specific phosphatase (LYP) which is an important downregulatory factor of T cell activation.
- Trial name
- NCT01276743
- Where
- Greece
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Aristotle University Of Thessaloniki
CYP2D6 Polymorphism
Effects of Isotretinoin on CYP2D6 Activity
Specific Aim: To investigate if isotretinoin (13-cis-retinoic acid) administration decreases CYP2D6 activity in adolescent patients.
- Trial name
- NCT03076021
- Testing
- Isotretinoin, dextromethorphan
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- University of Washington
Malignant Hyperthermia, Polymorphisms in Genes RYR1 and CACNAS1S
Spanish Registry of RYR1 and CACNA1S Polymorphisms
Study design: The Spanish registry of RYR1 and CACNA1S polymorphisms (RYCA) is an anonymous descriptive observational multicentre study that aims to identify and catalogue the variants or polymorphisms in the RYR1 and CACNA1S…
- Trial name
- NCT03964870
- Testing
- Diagnostic of polymorphisms in malignant hyperthermia
- Where
- Spain
- Volunteers
- 5,000 people
- Sponsor
- Hospital Universitario La Fe
Diabetes Mellitus
Association Study of Genetic Polymorphisms of Candidate Genes With Thiazolidinedione-Related Peripheral Edema and Drug Responsiveness
According to the above evidence, though the exact mechanism contributing to the Thiazolidinediones (TZDs) associated peripheral edema is still unclear, the investigators hypothesize that the genetic variations of certain…
- Trial name
- NCT00975169
- Where
- Taiwan
- Volunteers
- 400 people
- Sponsor
- National Taiwan University Hospital
Anovulation, Hyperandrogenism
Whole Genome Analysis for the Detection of Key Genes in the Polycystic Ovary Syndrome
Background: Infertility affects up to 15% of married couples. About half are attributable to female factors, among which anovulation is the leading cause.
- Conditions
- Anovulation, Hyperandrogenism, Polycystic Ovary Syndrome, Single Nucleotide Polymorphism
- Trial name
- NCT00665171
- Where
- Israel
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- Maaynei Hayesha Medical Center