Clinical trials: Genetic Variation
Autoimmune Diseases
Genetic Variants in Egyptian Patients Receiving HCQ(Hydroxychloroquine)
Hydroxychloroquine(HCQ)play major role in management of many rheumatic diseases. Retinal toxicity from HCQ is serious side effect because even after the drug drug is discontinued, there is little if any visual recovery.
- Trial name
- HCQ (NCT03180190)
- Testing
- Hydroxychloroquine Oral Tablet
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Assiut University
Fabry Disease
A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease
An Open-label Study to Evaluate the Safety and Pharmacokinetics of Migalastat HCl in Subjects with Fabry Disease and Amenable GLA Variants and Severe Renal Impairment (SRI) or End Stage Renal Disease (ESRD)
- Trial name
- NCT04020055
- Testing
- migalastat HCl 150 mg
- Where
- 12 sites in United States, Australia and 4 more
- Volunteers
- 14 people
- Sponsor
- Amicus Therapeutics
Diabetes Mellitus, Type 2, Cardiovascular Diseases
Variation of Genes Controlling Carbohydrate and Lipid Metabolism
Aim of the study is to investigate genes regulating glucose and lipid metabolism in subjects whose glucose metabolism, lipid metabolism, blood flow, or body fat distribution has been measured using positron emission tomography…
- Conditions
- Diabetes Mellitus, Type 2, Cardiovascular Diseases, Obesity, Insulin Resistance
- Trial name
- CMgene (NCT03310502)
- Where
- Finland
- Volunteers
- 2,050 people, healthy volunteers welcome
- Sponsor
- Turku University Hospital
Long QT Syndrome, ADHD
Drug-induced Repolarization ECG Changes
Studies have shown that the risk of developing heart arrhythmias, is increased in patients receiving medication for Attention-deficit hyperactivity disorder (ADHD) and depression.
- Conditions
- Long QT Syndrome, ADHD, Depression, Death
- Trial name
- NCT03642405
- Testing
- Electrocardiogram examination, Echocardiography, Blood Samples
- Where
- Denmark
- Volunteers
- 150 people
- Sponsor
- Copenhagen University Hospital at Herlev
Transplantation
Functional Genetic Variants Affecting Tacrolimus Trough Levels and Side Effects in Chinese Renal Transplantation.
The purpose of this study is to determine whether functional genetic variants can affect tacrolimus dose corrected trough levels and associate with the side effects in Chinese renal transplant recipients.
- Trial name
- NCT03083769
- Where
- 2 sites in China
- Volunteers
- 1,502 people
- Sponsor
- Southern Medical University, China
Hypertrophic Cardiomyopathy, Genetic Disease
Genomic Sequencing in Patients With HCM Undergoing Septal Myectomy
Investigators aim to use comparative exome and/or genome sequencing to discover causative molecular lesions for phenotypes hypothesized to be caused by somatic mutations.
- Conditions
- Hypertrophic Cardiomyopathy, Genetic Disease, Gene Product Sequence Variation
- Trial name
- NCT03043209
- Testing
- Genomic sequencing
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- The Cleveland Clinic
Transplantation, Pulmonary Diseases
Specific Genotypes/Phenotypes of Pneumocystis Jirovecii in Solid Organ Transplant Recipients: Potential Involvement of Mycophenolic Acid
To determine the presence of IMDPH mutants of Pneumocystis jirovecii in solid organ transplant recipient with prior exposition to mycophenolic acid.
- Trial name
- IMPDH (NCT05452148)
- Where
- France
- Volunteers
- 100 people
- Sponsor
- University Hospital, Brest
Brugada Syndrome, Sudden Death
The Response To Ajmaline Provocation in Healthy Subjects
Standard, high lead and sodium channel provoked electrocardiograms of a healthy volunteers will be performed to observe the various ECG changes.
- Trial name
- NCT02933437
- Testing
- Ajmaline
- Where
- United Kingdom
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- St George's, University of London
Radiation Exposure
Relationship of Genetic Differences to the Development of Chromosome Abnormalities
This is a collaborative study by the National Cancer Institute, Columbia University, and the Southern Urals Biophysics Institute in Russia.
- Trial name
- NCT00481793
- Where
- Russia
- Volunteers
- 361 people
- Sponsor
- National Cancer Institute (NCI)
Prostate Cancer Metastatic, Prostate Cancer
Evaluation of Response to Abiraterone/Prednisone by Race/Ethnicity and Other Factors in Metastatic Hormone Naive Prostate Cancer
The investigators are conducting this study with men that have prostate cancer and are getting standard of care treatment with the drugs abiraterone acetate and prednisone.
- Trial name
- APRE (NCT03833921)
- Testing
- Abiraterone Acetate, Prednisone
- Where
- 3 sites in United States
- Volunteers
- 130 people
- Sponsor
- Martha Mims
Febrile Seizure
Anthropogenetic Variability in the Group of Individuals With Febrile Seizures
Febrile seizures(FS) are the most common neurological disorder in chilhood and are a great stress for parents due to their dramatic clinical appearance.
- Trial name
- NCT03481764
- Testing
- HRC-test
- Where
- Serbia
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Institut za Rehabilitaciju Sokobanjska Beograd
Urea Cycle Disorders, Carbamoyl-Phosphate Synthase I Deficiency
Study of LNP.UCD.ABE in Patients With Urea Cycle Disorders
This is a single-site Phase 1/2 open-label umbrella clinical trial designed to evaluate the safety, tolerability, and efficacy of a single intravenous dose of LNP.UCD.ABE in 5 pediatric subjects with severe infantile-onset UCDs.
- Trial name
- NCT07667387
- Testing
- LNP.UCD.ABE
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Rebecca Ahrens-Nicklas
Sickle Cell, PKLR Variants
Genotype -Phenotype Correlation of PKLR Variants With Pyruvate Kinase, 2,3-Diphosphglycerate and Adenosine Triphosphate Activities in Red Blood Cells of People With Sickle Cell Disease
Background: Some people with the same disorder on a genetic level have more complications than others. Researchers want to look for a link between the PKLR gene and sickle cell disease (SCD) symptoms.
- Conditions
- Sickle Cell, PKLR Variants, Adenosine Triphosphate Activities
- Trial name
- NCT03685721
- Where
- United States
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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.
Male Infertility
Genetic Causes of Male Infertility
This study is being conducted at the University Hospital of Lund University in Malmo, Sweden, in collaboration with the U.S. National Institute of Child Health and Human Development.
- Trial name
- NCT00341120
- Where
- Sweden
- Volunteers
- 400 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Obesity
Study to Investigate Genetic Causes of Severe Early Childhood Onset Obesity.
This study aims to investigate genetic causes of early childhood obesity. The investigators will enroll children and adults with severe early onset obesity (BMI > 99th percentile) diagnosed prior to 6 years of age.
- Trial name
- GECO (NCT01998750)
- Where
- 2 sites in United States
- Volunteers
- 500 people
- Sponsor
- Columbia University
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
Osteogenesis Imperfecta (OI)
Osteogenesis Imperfecta Trial of AGA2115 for ADUlts With COL1A1 and/or COL1A2 GeNetic Variations (IDUN)
This study will determine the effect of treatment of AGA2115 in adults with Type I, III, or IV osteogenesis imperfecta versus placebo.
- Trial name
- IDUN (NCT07062588)
- Testing
- AGA2115
- Where
- 26 sites in United States, Argentina and 6 more
- Volunteers
- 80 people
- Sponsor
- Angitia Incorporated Limited
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
Arrhythmogenic Cardiomyopathy, PKP2-ACM
Long-term Follow-up Study of Gene Therapy for Arrhythmogenic Cardiomyopathy Due to a Plakophilin-2 Pathogenic Variant
The primary objective of this Phase 1/2 long-term follow-up (LTFU) study is to assess the long-term safety and tolerability of LX2020 for the treatment of arrhythmogenic cardiomyopathy (ACM) due to a plakophilin-2 gene (PKP2)…
- Conditions
- Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC
- Trial name
- GRIT-PKP2 (NCT07050160)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Lexeo Therapeutics