Clinical trials: Genetic Variation
Lipid Metabolism Disorders
The Genetic, Protein, and Lipid Basis of Variation in Cholesterol Efflux
The rationale of this research is that deep phenotyping of individuals at the extremes of cholesterol efflux will identify key determinants of efflux that are potential novel therapeutic targets to prevent or reverse…
- Trial name
- NCT04061018
- Where
- United States
- Volunteers
- 86 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Phenylketonuria (PKU)
A Pilot Study on Diurnal Variation
This self-controlled, prospective, pilot study is designed to gather information regarding the diurnal variation (changes that occur each day) in the levels of plasma phenylalanine (Phe) and tyrosine in patients with…
- Trial name
- NCT01806051
- Testing
- Kuvan
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Dr. Linda Randolph
Myocardial Infarction
Genetic Variation in Platelet Aggregation
The aim of the study is to test whether genetic variation in the alpha 2A adrenergic receptor affects diurnal variation in platelet aggregation.
- Trial name
- NCT01576536
- Where
- United States
- Volunteers
- 117 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University
Metabolic Syndrome X
Efficacy Study Regarding the Beneficial Effects of Omega-3 Fatty Acids on Cardiometabolic Health
Fish oil supplements (which are rich in omega-3 fatty acids) have been shown to provide cardiometabolic benefits to individuals of all ages.
- Trial name
- FOHS (NCT02042274)
- Testing
- Fish oil supplement
- Where
- Canada
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- University of Guelph
Systemic Lupus Erythematosus
A Prospective Study of Cyclophosphamide in Systemic Lupus Erythematosus Treatment
The purpose of this study is to compare the genotype-based personal prescription of cyclophosphamide with the traditional prescription.
- Trial name
- SLE (NCT01689350)
- Testing
- Genotype Detection
- Where
- China
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- Sun Yat-sen University
Myocardial Infarction, Thrombosis
CES1 Crossover Trial of Clopidogrel and Ticagrelor
The purpose of this investigation is to evaluate when genetic variation in the carboxylesterase 1 (CES1) gene influences antiplatelet therapy response, as assessed by ex vivo platelet aggregometry, in healthy participants treated…
- Conditions
- Myocardial Infarction, Thrombosis, Platelet Dysfunction
- Trial name
- NCT03161678
- Testing
- Clopidogrel, Ticagrelor
- Where
- United States
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- University of Maryland, Baltimore
Sickle Cell Disease, Sickle Cell Trait
Evaluation of Low-cost Techniques for Detecting Sickle Cell Disease and β-thalassemia in Nepal and Canada
Sickle cell disease (SCD) is an inherited blood disorder associated with acute illness and organ damage. In high resource settings, early screening and treatment greatly improve quality of life.
- Conditions
- Sickle Cell Disease, Sickle Cell Trait, Beta-Thalassemia, Sickle Cell-Beta Thalassemia
- Trial name
- NCT05506358
- Testing
- High performance liquid chromatography, Automated sickling test, HbS solubility test
- Where
- 3 sites in Canada, Nepal
- Volunteers
- 145 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Alcohol Related Disorders, Alcoholism
Pharmacogenetics of Alcohol: Treatment Implications
This study will explore the hypothesis that effects of alcohol are in part mediated by increased production of neuroactive steroids, which interact with GABAA-receptors.
- Conditions
- Alcohol Related Disorders, Alcoholism, Alcohol Abuse
- Trial name
- NCT00734656
- Testing
- dutasteride + ethanol
- Where
- United States
- Volunteers
- 94 people, healthy volunteers welcome
- Sponsor
- UConn Health
Other Conditions That May Be A Focus of Clinical Attention
Genetic Basis for Variation in the Renal Elimination of Metformin
The current study is part of a large multi-investigator grant to look at the pharmacogenetics of a number of membrane transporters.
- Trial name
- NCT00187720
- Testing
- Metformin
- Where
- United States
- Volunteers
- 23 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
HIV Infections, Tuberculosis
Characteristics and Prevalence of Tuberculosis and HIV in Masiphumelele Township, Cape Town, South Africa
The purpose of this study is to determine the number of people infected with tuberculosis (TB) in the Masiphumelele Township of Cape Town, South Africa, a community with high rates of TB and HIV.
- Trial name
- NCT00346476
- Where
- 2 sites in South Africa
- Volunteers
- 1,250 people, healthy volunteers welcome
- Sponsor
- CIPRA SA
Other Conditions That May Be A Focus of Clinical Attention
Organic Cation Transporter 1 (OCT1), on Response to Metformin in Healthy Subjects
Specific Objectives: To determine if individuals who carry a decreased or non-functional variant of OCT1 exhibit differences in the pharmacokinetics of metformin in comparison to individuals who carry the common allele.
- Trial name
- NCT00187681
- Testing
- Metformin
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Healthy
CYP2B6 Genetics and Drug Interactions in Healthy Volunteers
The CYP2B6 enzyme metabolizes a growing number of clinically important drugs such as the anti-HIV drug efavirenz, but its activity in the liver is highly variable, which may lead to failure of therapy or toxicity and…
- Trial name
- NCT02401256
- Testing
- Efavirenz, Bupropion, Rosuvastatin
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Indiana University
Diabetes
GLP1R Polymorphisms and Response to GLP1
Glucagon-like Peptide-1 (GLP-1) is an important incretin hormone which acts as a powerful insulin secretagogue. Defects in GLP-1 synthesis and secretion are thought to be part of the pathogenesis of type 2 diabetes.
- Trial name
- NCT00588380
- Testing
- GLP-1
- Where
- United States
- Volunteers
- 88 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Focus Groups
Effect of, OAT3, on the Renal Secretion of Cefotaxime
In the proposed study, we plan to use a genotype to phenotype strategy to study the role of the organic anion transporter, OAT3, in drug response.
- Trial name
- NCT00187655
- Testing
- Cefotaxime
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco