Clinical trials: Polymorphism, open to volunteers
Congenital Heart Disease
Genetics of Congenital Heart Disease
Congenital heart disease (CHD) is the most common type of birth defect but the cause for the majority of cardiac birth defects remains unknown.
- Trial name
- NCT01192048
- Testing
- Blood Sample Collection
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Nationwide Children's 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.
Alcohol Drinking
Nicotinic Receptor Genetic Variation and Alcohol Reward
Background: People with the brain disease AUD (alcohol use disorder) have a serious problem with drinking. Researchers want to study how different people react to alcohol, and how genes affect this.
- Trial name
- NCT03294460
- Testing
- Alcohol (Oral), Alcohol (IV), Alcohol (Ethanol)
- Where
- United States
- Volunteers
- 128 people, healthy volunteers welcome
- Sponsor
- National Institute on Alcohol Abuse and Alcoholism (NIAAA)
Chronic Pain, Fibromyalgia
Full-Spectrum Cannabis Extract for Chronic Pain and Bone Health Biomarkers in Women
Chronic pain disproportionately affects women and may coexist with impaired bone health, particularly during midlife and after menopause.
- Conditions
- Chronic Pain, Fibromyalgia, Osteoporosis, Orofacial Pain
- Trial name
- ORION (NCT07783295)
- Testing
- Full-Spectrum Cannabis Extract 5:1 (CBD:THC)
- Where
- Brazil
- Volunteers
- 80 people
- Sponsor
- Associação Pan-Americana Multidisciplinar de Endocanabinologia
Atopic Dermatitis
Mechanisms of Increased Disease Severity in AD Patients With the IL-4Ra R576 Polymorphism
This protocol is primarily looking to see if the IL-4Ra R576 polymorphism is associated with increased clinical, immunological and microbial markers of disease activity in patients with Atopic dermatitis.
- Trial name
- NCT04455906
- Where
- United States
- Volunteers
- 111 people
- Sponsor
- Boston Children's Hospital
Leukemia, Myeloid, Acute
Toxicity Genetic Determinants and Response to Azacitidine and Venetoclax in AML
The purpose of this research is to see how certain genetic variations relate to side effects and outcomes experienced while receiving treatment with azacitidine and venetoclax.
- Trial name
- NCT06580106
- Testing
- Biospecimen samples
- Where
- 2 sites in United States
- Volunteers
- 50 people
- Sponsor
- Wake Forest University Health Sciences
Psoriasis
Evaluation of IL 12B Genetic Polymorphism (rs3213094)
Psoriasis is a skin disorder that is chronic proliferative and inflammatory in nature. Extensor surfaces, scalp, and lumbosacral area are covered in erythematous plaques with silvery scales.
- Trial name
- NCT07128472
- Testing
- Humira
- Where
- Egypt
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- South Valley University
Diabetes, Heart Disease
Personalized Environment and Genes Study
Despite the overwhelming focus on genetic and genomic causes of human disease over the past two decades, it has been estimated that genetics is currently known to explain only 20% and 40% of the etiology of common disease.
- Conditions
- Diabetes, Heart Disease, Asthma
- Trial name
- NCT00341237
- Where
- 2 sites in United States
- Volunteers
- 25,000 people, healthy volunteers welcome
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Gastric Adenocarcinoma, Helicobacter Pylori
Prospective Gastric Cancer Screening Using Helicobacter Pylori High-Risk Single Nucleotide Polymorphism Detection
This is a prospective study designed to compare the performance of fecal H. pylori gastric cancer susceptibility analysis and the gastric cancer risk questionnaire for the early detection of gastric cancer.
- Trial name
- NCT06943781
- Testing
- Fecal Helicobacter pylori gastric cancer susceptibility gene test
- Where
- China
- Volunteers
- 15,000 people, healthy volunteers welcome
- Sponsor
- Fudan University
DiGeorge Syndrome, 22q11.2 Deletion Syndrome
Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people.
- Trial name
- NCT00556530
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Albert Einstein College of Medicine
Inherited Cardiac Arrythmias, Long QT Syndrome (LQTS)
Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias
Human induced pluripotent stem cells (hiPSCs) have driven a paradigm shift in the modeling of human disease; the ability to reprogram patient-specific cells holds the promise of an enhanced understanding of disease mechanisms and…
- Conditions
- Inherited Cardiac Arrythmias, Long QT Syndrome (LQTS), Brugada Syndrome (BrS), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
- Trial name
- NCT02413450
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Cleft Lip and Cleft Palate
Detection of Single Nucleotide Polymorphism (SNP) Rs2235371 of IRF6 Gene in Egyptian Patients with Non-Syndromic Cleft Lip and Palate
The aim of this work is to study the relation between SNP rs2235371 of IRF 6 gene and Non-Syndromic Cleft Lip and Palate in Egyptian Patients in a prospective study
- Trial name
- NCT06730880
- Testing
- PCR
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Assiut University
Infertility
Study of Gene Associations and Infertility
The purpose of this this study is to use DNA screening strategies to identify genes and localize genomic regions that are differentially expressed in patients with infertility to further understand the genetic basis for…
- Trial name
- NCT01223092
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Reproductive Medicine Associates of New Jersey
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
Chronic Hepatitis B
Exploring the Genome-wide Association Study of the Population With Clinical Cure Advantage in the Treatment of Chronic Hepatitis B With Long-acting Interferon
This study is a real-world case-control study conducted, with 120 CHB patients who received continuous treatment with PEG-IFN-α for more than 24 weeks as study subjects.
- Trial name
- NCT06696664
- Testing
- PEG-IFN-α
- Where
- China
- Volunteers
- 120 people
- Sponsor
- Minghui Li
Interaction
Contribution of UGT2B17 to the Pharmacokinetics of Diclofenac
The purpose of this pilot study is to gather preliminary data on the (1) contribution of the understudied drug metabolizing enzyme, UDP-glucuronosyltransferase (UGT) 2B17, to the metabolism of a widely used medication…
- Trial name
- NCT06053411
- Testing
- Diclofenac, curcumin
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Washington State University
Genetics in Hypertension
Beta-2 Adrenergic Receptor Polymorphic Variants: An Endotype of Salt Sensitive Hypertension (Beta2AR).
All living things are made of building blocks called cells. Genes are the part of cells that contain the instructions which determine important things about you, like your height or hair color, and affect your health.
- Trial name
- Beta2AR (NCT07832942)
- Testing
- low sodium diet, high sodium diet, renal plasma flow
- Where
- United States
- Volunteers
- 110 people
- Sponsor
- Brigham and Women's Hospital
Gestational Diabetes Mellitus (GDM), Pregnancy
Effect of an Early and Intensified Nutritional Intervention on the Risk of Developing Gestational Diabetes Mellitus
The goal of this clinical trial is to learn if a nutritional intervention based on a Mediterranean diet (MedDiet), initiated early in pregnancy, reduces the incidence of gestational diabetes mellitus (GDM) and other adverse…
- Conditions
- Gestational Diabetes Mellitus (GDM), Pregnancy, Mediterranean Diet
- Trial name
- MedDiet in GDM (NCT07817017)
- Testing
- Nutritional intervention based on a Mediterranean diet
- Where
- Spain
- Volunteers
- 1,200 people
- Sponsor
- Hospital San Carlos, Madrid
MASLD/MASH (Metabolic Dysfunction-Associated Steatotic Liver Disease / Metabolic Dysfunction-Associated Steatohepatitis)
Study of PNPLA3 Genetic Polymorphisms in Patients With Non-Alcoholic Fatty Liver Disease in an Ultramarine Population (AdipoDROMExpo)
Metabolic Dysfunction Associated Liver Disease (MASLD) is associated with metabolic syndrome, and PNPLA3 variants are known to be implicated in intrahepatic lipid accumulation and linked to lipotoxicity.
- Trial name
- AdipoDROMExpo (NCT07330830)
- Where
- 3 sites in French Guiana, Guadeloupe and 1 more
- Volunteers
- 600 people
- Sponsor
- Centre Hospitalier Universitaire de la Guadeloupe
Alcohol-related Liver Disease
Genetic Polymorphisms Associated With the Risk of Pancreatitis in Patients With Alcohol Related Cirrhosis.
Alcohol is a known risk factor for both pancreatitis and cirrhosis. However, not all patients with alcohol related cirrhosis develop pancreatitis.
- Trial name
- NCT06763198
- Where
- India
- Volunteers
- 150 people
- Sponsor
- Institute of Liver and Biliary Sciences, India