Clinical trials: Genetic Variation
Healthy
A Study to Evaluate the Effect of Genetic Variation on Beta-cell Function During Fasting and Hyperglycemia in Nondiabetics
The GLP-1 receptor (GLP1R) gene is found on the beta cells of the pancreas. Its role is in the control of blood sugar level by enhancing insulin secretion from the pancreas after eating a meal.
- Trial name
- NCT04466566
- Testing
- Saline, Exendin-9,39, Liraglutide
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Adrian Vella
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
Hemophilia B
Study of Next-Generation Recombinant Factor IX Variant in Adult Subjects With Hemophilia B
Phase 2b, single-center, open-label study designed to evaluate the pharmacokinetics, pharmacodynamics, efficacy and safety of subcutaneous (SC) prophylaxis treatment regimens with CB2679d in 6 adult, male subjects with severe…
- Trial name
- NCT03995784
- Testing
- Coagulation Factor IX variant
- Where
- South Africa
- Volunteers
- 6 people
- Sponsor
- Catalyst Biosciences
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
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
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
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
Hemophilia A
Phase 1 Safety, Pharmacokinetics And Pharmacodynamics Study Of Recombinant Factor VIIa Variant (813d) In Adult Subjects With Hemophilia
This study hypothesizes that the study drug, PF-05280602 (at the selected doses) will be safe to administer to subjects with severe Hemophilia A or B with or without inhibitors and will demonstrate evidence of hemostatic…
- Trial name
- NCT01439971
- Testing
- PF-05280602
- Where
- 23 sites in United States, Belgium and 6 more
- Volunteers
- 29 people
- Sponsor
- Catalyst Biosciences
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
Fabry Disease
Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease
This is a long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants
- Trial name
- NCT04049760
- Testing
- migalastat HCl 150 mg
- Where
- 6 sites in United States, United Kingdom
- Volunteers
- 16 people
- Sponsor
- Amicus Therapeutics
Congenital Sucrase-isomaltase Deficiency (CSID)
Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
Congenital sucrose-isomaltase deficiency (CSID) is a rare, genetic disease in which mutations in the sucrose-isomaltase (SI) gene cause digestion problems of sucrose resulting in diarrhea and abdominal pain.
- Trial name
- CSID GPS (NCT01914003)
- Where
- 19 sites in United States
- Volunteers
- 53 people
- Sponsor
- QOL Medical, LLC
Hemophilia A, Hemophilia B
Study of Coagulation Faction VIIa Variant Marzeptacog Alfa (Activated) in Adult Subjects With Hemophilia
This multi-center, open label Phase 1 study will evaluate the pharmacokinetics, pharmacodynamics, and safety of a single IV dose of MarzAA followed by ascending single SC doses of MarzAA in adult subjects with moderate or severe…
- Conditions
- Hemophilia A, Hemophilia B, Hemophilia A With Inhibitor, Hemophilia B With Inhibitor
- Trial name
- NCT04072237
- Testing
- MarzAA (marzeptacog alfa [activated])
- Where
- 5 sites in Bulgaria, Russia
- Volunteers
- 11 people
- Sponsor
- Catalyst Biosciences
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
Primary Familial Dilated Cardiomyopathy
Exploratory Study of Danicamtiv in Patients With Primary Dilated Cardiomyopathy (DCM) Due to Genetic Variants or Other Causalities
The purpose of this Phase 2a study is to establish safety and preliminary efficacy of treatment with danicamtiv in patients with primary dilated cardiomyopathy (DCM) due to MYH7 or TTN variants or other causalities.
- Trial name
- NCT04572893
- Testing
- danicamtiv
- Where
- 19 sites in United States, Germany and 2 more
- Volunteers
- 41 people
- Sponsor
- Bristol-Myers Squibb
Thalassemia
Allogeneic Stem Cell Transplantation, Severe Homzygous 0/+Thalassemia or Sever Variants of Beta 0/+ Thalassemia, THALLO
Patients have severe beta-thalassemia or one of the thalassemia variants. Thalassemia is a hereditary disease in which the bone marrow produces abnormal red blood cells that have a shorter life span than normal red blood cells.
- Trial name
- THALLO (NCT00578292)
- Testing
- Busulfan, Fludarabine, Campath 1H
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Baylor College of Medicine
Parkinson Disease
A Study to Assess if BIIB122 Tablets Are Safe and Can Slow Worsening of Early-Stage Parkinson's Disease in Participants With Specific LRRK2 Genetic Variants Between the Ages of 30 and 80 Using the Movement Disorder Society-Unified Parkinson's Disease Rating Scale
In this study, researchers will learn more about a study drug called BIIB122 in participants with early-stage Parkinson's disease (PD). The study will focus on participants with a specific genetic variant in their LRRK2 gene.
- Trial name
- LIGHTHOUSE (NCT05418673)
- Testing
- BIIB122
- Where
- 27 sites in United States, France and 4 more
- Volunteers
- 7 people
- Sponsor
- Biogen
Glaucoma
Effect of Myocilin Genetic Variants on Intraocular Pressure and Pressure Variation in Sitting and Supine Positions
The purpose of this study is to determine if one of the genes that can cause glaucoma, called myocilin, are associated with larger eye pressure and blood pressure changes in sitting and lying down positions without glaucoma drug…
- Trial name
- Myoc Gene (NCT00906087)
- Testing
- Cosopt (combination eyedrop of dorzolamide and timolol)
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- University of Michigan
Variant Late-Infantile Neuronal Ceroid Lipofuscinosis
Gene Therapy For Children With Variant Late Infantile Neuronal Ceroid Lipofuscinosis 6 (vLINCL6) Disease
This is a phase 1/2, open-label, single dose study to evaluate the safety and efficacy of AT-GTX-501 delivered intrathecally into the lumbar spinal cord region of participants with mild to moderate variant late infantile neuronal…
- Trial name
- NCT02725580
- Testing
- AT-GTX-501
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- Emily de los Reyes
Klinefelter Syndrome
Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment
This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about body composition (muscle and fat) and male hormones and look at the effect of testosterone shots on body composition.
- Trial name
- NCT02408445
- Testing
- testosterone cypionate 200mg/ml
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Colorado, Denver
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