Clinical trials: Nucleotide Variant
Epithelial Ovarian Cancer, Nucleotide Variant
Genetic Mutation in Epithelial Ovarian Cancer
Little is known about the characteristics of genetic mutation in a large multi-gene panel in epithelial ovarian cancer. This study is to explore the targeted genetic mutations via a multi-gene panel, which consists of more than…
- Conditions
- Epithelial Ovarian Cancer, Nucleotide Variant, Copy Number Variation, Insertion-deletion Variation
- Trial name
- NCT04191252
- Testing
- A multi-gene panel testing
- Where
- China
- Volunteers
- 500 people
- Sponsor
- Lei Li
Pain, Chronic Pain
Observational Study Linking Genetic Variants With Clinical Outcomes in Pain Management
The purpose of this study is to (a) evaluate the treatment approaches and changes in treatment regimens utilized by clinicians when genetic testing is performed in the clinic; and (b) create a patient data registry to identify…
- Trial name
- TROJAN (NCT02480075)
- Testing
- Observational
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- Proove Bioscience, Inc.
Fatty Acid Desaturases, Polymorphism, Single Nucleotide
Genetic Variants Modulate Association Between Dietary n-3 LCPUFAs and DHA Proportion in Breast Milk
DHA is important for the development of brain and retina in newborns. Considering that exclusive breast feeding for at least 4 ~6 months are globally recommended, plus it is well known that nutrient requirement is determined by…
- Conditions
- Fatty Acid Desaturases, Polymorphism, Single Nucleotide, Milk, Human
- Trial name
- NCT03842891
- Where
- Taiwan
- Volunteers
- 193 people, healthy volunteers welcome
- Sponsor
- China Medical University Hospital
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
Cancer, Breast Cancer
Role of Gene Variation in Effectiveness of Gleevec Treatment
This study will examine DNA from cancer patients previously treated with Gleevec to look for a variation (mutation) of the ABCG2 gene that may render the drug less effective in certain patients.
- Trial name
- NCT00342056
- Where
- 2 sites in United States, Belgium
- Volunteers
- 100 people
- Sponsor
- National Cancer Institute (NCI)
Autism Spectrum Disorder (ASD)
Investigation of the Genetic and Environmental Causes of Autism: a Multi-Center Study
The goal of this observational study is to investigate the genetic and epigenetic mechanisms that may contribute to the development of Autism Spectrum Disorder (ASD) in individuals of different age groups.
- Trial name
- ASD-Omics-TR (NCT06662591)
- Where
- 20 sites in Turkey (Türkiye)
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Research and Treatment Society of Genetic Disorders
Lung Cancer, Non-Small Cell Lung Cancer
Molecular Profiling Project
In this study, the investigators plan to undertake comprehensive molecular profiling of "actionable" alterations in lung cancer specimens in order to determine the prevalence of each genetic subtype in the local population.
- Trial name
- NCT04025515
- Where
- 10 sites in Brunei, Hong Kong and 4 more
- Volunteers
- 500 people
- Sponsor
- National Cancer Centre, Singapore
Recurrent Cervical Cancer, Nucleotide Variant
Genetic Mutation in Recurrent Cervical Cancer
Little is known about the characteristics of genetic mutation in recurrent cervical cancer. This study is to explore the targeted genetic mutations via a multi-gene panel, which consists of more than 500 hundred genes.
- Conditions
- Recurrent Cervical Cancer, Nucleotide Variant, Copy Number Variation, Insertion-deletion Variation
- Trial name
- NCT04191226
- Testing
- Multi-gene panel testing
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Lei Li
Incretin Effect
The Effect of GIP, GLP-1 and GLP-2 in Individuals With Genetically Altered Receptor Function
This project will characterize the physiological effect of the hormones, GIP-, GLP-1- and GLP-2 infusions in a group of individuals that are carriers of GIP-, GLP-1- and GLP-2 receptor gene variants, respectively.
- Trial name
- H-21044858 (NCT06194955)
- Testing
- GIP(1-42), GLP-1, GLP-2
- Where
- Denmark
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
Asthma
The Effects of Different Long-acting Bronchodilator Medications on Asthma Patients With Different Genetic Variations
This study is looking at the effects of certain long-acting bronchodilators on patients with asthma who have specific genetic variations.
- Trial name
- GABLE (NCT00706446)
- Testing
- tiotropium bromide, Salmeterol, Formoterol
- Where
- 2 sites in United States
- Volunteers
- 255 people
- Sponsor
- Brigham and Women's Hospital
Variant Nucleotide
Solving Challenging Diagnoses Through Ultra-long Read Sequencing
If the study is able to demonstrate that the LRS concretely overcomes the technical limitations of diagnostic methods routinely used in laboratories, its clinical application may make possible a more accurate analysis of repeated…
- Trial name
- SCHeDULeRS (NCT06775613)
- Testing
- Long-read sequencing
- Where
- Italy
- Volunteers
- 15 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Pain, Chronic Pain
A Study of the Impact of Genetic Testing on Clinical Decision Making and Patient Care
The purpose of this study is to evaluate the impact of genetic testing on healthcare decisions and patient outcomes for patients suffering from pain, cardiovascular problems, Arthritis, Type II Diabetes, and/or Mental Health…
- Conditions
- Pain, Chronic Pain, Mental Disorders, Cardiovascular Diseases
- Trial name
- REVOLUTION (NCT02487888)
- Testing
- Unblinded to Genetic Testing Results, Blinded to Genetic Testing Results
- Where
- 31 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Proove Bioscience, Inc.
NSCLC (Non-small Cell Lung Cancer)
Gene Molecular Alterations as Disease Prognostic Markers in Patients With Non-small Cell Lung Cancer (NSCLC)
GEMA-proN is an observational, multicenter, single cohort, retrospective clinical trial. The aim of the trial is to assess the prevalence, and prognostic value of genetic molecular alterations and investigate correlations with…
- Trial name
- GEMA-proN (NCT06876402)
- Where
- Greece
- Volunteers
- 367 people
- Sponsor
- Hellenic Cooperative Oncology Group
Solid Cancer, Gastric (Cardia, Body) Cancer
Impact of CES1 Genotype on Capecitabine Exposure in Cancer Patients
In this study, the drug capecitabine is investigated. Capecitabine is commonly used to treat breast, colon, and stomach cancers. Capecitabine is taken in tablet form.
- Conditions
- Solid Cancer, Gastric (Cardia, Body) Cancer, Esophageal Cancer, Colorectal Cancer (CRC)
- Trial name
- ESCAPE (NCT07114627)
- Testing
- Blood sampling for pharmacokinetics
- Where
- Netherlands
- Volunteers
- 66 people
- Sponsor
- Erasmus Medical Center
Premature Birth
Three Interacting Single Nucleotide Polymorphisms (SNPs) and the Risk of Preterm Birth in Black Families
A multilocus interaction of three pro-inflammatory cytokine single nucleotide polymorphisms (SNPs), -3448 Tumor Necrosis Factor-α, -7227 Interleukin 6, and 33314 Interleukin 6R was reported by Menon and associates in 2006.
- Trial name
- NCT00675753
- Testing
- Blood spot specimens will be drawn
- Where
- 2 sites in United States
- Volunteers
- 258 people, healthy volunteers welcome
- Sponsor
- University of Miami
Cancer
Genome Sequencing of Human Cancer Tissues
The goal of this study is to develop a new, local system that will use special tests based on patients' genetic makeup to better tailor cancer care at the University of New Mexico Cancer Center.
- Trial name
- NCT02105545
- Testing
- Cancer Treatment Options
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- New Mexico Cancer Research Alliance
Dyslipidemia, Impaired Glucose Tolerance
Dietary Modulation of Hepatic Lipase (LIPC) -514 C/T Variant Associations With Lipids and Glucose
The investigators evaluated dietary modulation of LIPC rs1800588 (-514 C/T) for lipids and glucose using a randomized cross-over design comparing a high-fat Western diet and a low-fat traditional Hispanic diet in Caribbean…
- Trial name
- NCT02938091
- Testing
- High-fat diet, Low-fat diet
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Tufts University
Gene Mutation-Related Cancer, Genetic Predisposition
COsegregation of VARiants in Panel of Genes
The aim of the COVAR project is to achieve reliable classification of as many variants of interest as possible from the French OncoGenetics Database (FrOG, https://frog-db.fr/) in order to use them for the genetic counseling.
- Trial name
- COVAR (NCT01689584)
- Testing
- salivary kit
- Where
- 62 sites in France, Guadeloupe and 3 more
- Volunteers
- 11,000 people
- Sponsor
- Institut Curie
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
Pain, Chronic Pain
Observational Study of the Impact of Genetic Testing on Healthcare Decisions and Care in Interventional Pain Management
The purpose of this study is to evaluate the impact of genetic testing on healthcare decisions and patient outcomes in interventional pain management clinical care.
- Conditions
- Pain, Chronic Pain, Back Pain, Nociceptive Pain
- Trial name
- MOSAIC (NCT02485795)
- Testing
- Observational
- Where
- 31 sites in United States
- Volunteers
- 50,000 people
- Sponsor
- Proove Bioscience, Inc.