Clinical trials: Genetic Conditions
Arrhythmia, Sudden Cardiac Death
Electrophysiological Phenotyping Of Patients at Risk of Ventricular Arrhythmia and Sudden Cardiac Death
Obesity, rheumatoid arthritis (RA) and gene-specific dilated cardiomyopathy (DCM) are common medical conditions. Small-scale studies have shown that these are associated with proarrhythmic changes on 12-lead electrocardiogram…
- Conditions
- Arrhythmia, Sudden Cardiac Death, Cardiomyopathy, Dilated, Obesity
- Trial name
- EPORVA (NCT03910725)
- Testing
- Electrocardiographic imaging
- Where
- 2 sites in United Kingdom
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Cannabis Use, Neurocognitive Dysfunction
Prospective Evaluation on Cognitive Function and Its Associated Genetic Vulnerability in Cannabis Users
Most of the studies assessing Cannabis Use Disorder (CUD) and neurocognitive functions are cross-sectional without examining the longitudinal changes in neurocognitive function at a within-subject level with respect to the…
- Conditions
- Cannabis Use, Neurocognitive Dysfunction, Genetic Predisposition
- Trial name
- SToP-C_PeCoG (NCT04373525)
- Testing
- Genome analysis
- Where
- Hong Kong
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- The University of Hong Kong
Mitochondrial Diseases, Obesity
Muscle OXPHOS and Nutrient Homeostasis
Investigators are recruiting adults (men and women, ages 18 to 65 years, inclusive) with a confirmed genetic diagnosis of mitochondrial disease.
- Trial name
- NCT02920671
- Testing
- Tracer-enhanced oral glucose tolerance test (OGTT*), Muscle MRI, Dual energy x-ray absorptiometry (DXA)
- Where
- 2 sites in United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Anesthesia, Analgesia
Genetic Variants and Non-genetic Variables and Postoperative Nausea and Vomiting
Prospective observational study to analyse the association of non-genetic variables as well as genetic variants of candidate genes with the incidence of postoperative nausea and vomiting (PONV).
- Conditions
- Anesthesia, Analgesia, Surgical Procedure, Operative
- Trial name
- NCT03490175
- Where
- Switzerland
- Volunteers
- 2,778 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Spinocerebellar Ataxias, Spastic Paraplegias
Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
The autosomal dominant spinocerebellar degenerations are a highly heterogeneous, clinically and genetically, group of rare diseases and of severe evolution.
- Trial name
- NCT00136630
- Where
- 8 sites in France
- Volunteers
- 175 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Tryptophan Metabolism Alterations, Polymorphism
Effect of Genetic Alterations Affecting the Genes Encoding the Major Enzymes of the Kynurenine Pathway on Suicidal Behavior
Current research has shown that an imbalance in the Kynurenine pathway plays a role in the physiopathology of neurogenerative and mental disorders (with a decrease in neuroprotective metabolites and an increase in neurotoxic…
- Conditions
- Tryptophan Metabolism Alterations, Polymorphism, Suicidal Behavior
- Trial name
- SuiKYN (NCT04565834)
- Testing
- SNP (single nucleotide polymorphism) genotyping
- Where
- 2 sites in France, Spain
- Volunteers
- 849 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Nīmes
Chronic Granulomatous Disease
Effect of IFN-γ on Innate Immune Cells
The investigators hypothesize that neutrophils and monocytes developed under the influence of Interferon- gamma-1b (IFN-γ-1b, Actimmune*) in vivo will display enhanced function across a broad range of activities related in large…
- Trial name
- NCT02609932
- Testing
- Administration of drug (Interferon-gamma 1-b) subcutaneously
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
IBS - Irritable Bowel Syndrome
The Effect of Dietary Intervention on Symptoms, Epigenetics, and Gut Microbiota in IBS
The aim of the present study is to research whether subjects with irritable bowel syndrome (IBS) display epigenetic/genetic changes or altered microbiota compared to a non-IBS control group.
- Trial name
- NCT03306381
- Testing
- Dietary intervention
- Where
- Sweden
- Volunteers
- 105 people, healthy volunteers welcome
- Sponsor
- Region Skane
Tourette Syndrome
Study of GABA-A Receptors in the Generation of Tics in Patients With Tourette's Syndrome
This study will investigate how the brain generates tics in patients with Tourette's syndrome and which areas of the brain are primarily affected.
- Trial name
- NCT00034398
- Where
- United States
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Breast Cancer Screening, Colon Cancer Screening
Bundled Cancer Screening and Genetic Services Navigation
The goal of this study is to test bundled familial cancer risk assessment + multicancer (colorectal + breast) vs. single (breast) cancer navigation, using a wait list control for colorectal cancer screening referral and…
- Conditions
- Breast Cancer Screening, Colon Cancer Screening, Genetics Predisposition
- Trial name
- NCT07228000
- Testing
- Breast cancer screening navigation, Multicancer screening navigation, Usual care genetics referral
- Where
- 2 sites in United States
- Volunteers
- 820 people, healthy volunteers welcome
- Sponsor
- Georgetown University
Dermatitis, Atopic
Skin Irritation Study of GSK2894512 Cream
GSK2894512 is a novel anti-inflammatory agent that is currently under development for the topical treatment of atopic dermatitis and chronic plaque psoriasis.
- Trial name
- NCT02637206
- Testing
- GSK2894512 Cream, Vehicle Cream, Empty Patch
- Where
- Japan
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Prader-Willi Syndrome, Obesity
Plasma Adiponectin Level and Vascular Endothelial and Smooth Muscle Cell Function in Children With Prader-Willi Syndrome
Context: Prader-Willi syndrome (PWS) is a genetic disorder characterized by childhood-onset obesity and endocrine dysfunction that leads to cardiovascular disability and early death within the first 3 decades of life.
- Trial name
- NCT01479322
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Neuromuscular Diseases, Hemiparesis
Validation Study of Posturology Platforms for Evaluating Postural Control of Hemiparetic and Neuro-muscular Patients
The instrumental evaluation of standing postural control by posturographic analysis supplements the clinical evaluation and, as such, is recommended by the French National Authority for Health (HAS 2007).
- Conditions
- Neuromuscular Diseases, Hemiparesis, Charcot-Marie-Tooth Disease
- Trial name
- KPLATES (NCT04283175)
- Testing
- Posturological examination on KPlates and AMTI platforms, Berg Balance Scale (BBS)
- Where
- France
- Volunteers
- 77 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Gout, Hyperuricemia
The Effect of Colchicine on the Pharmacokinetic Profile of LC350189 in Healthy Aldults.
This is a Phase 1, open-label, fixed-sequence, 3-period, 2-way drug interaction study designed to assess the PK, PD, safety, and tolerability of LC350189 and colchicine when administered alone and in combination in healthy…
- Trial name
- NCT03927677
- Testing
- Xanthine Oxidase Inhibitor
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- LG Chem
Healthy
Bioequivalence Study of Terbinafine Hydrochloride Tablets, 250 mg of Dr. Reddy's Under Fed Conditions
The purpose of this study is to compare the rate and extent of absorption of terbinafine hydrochloride 250 mg tablets versus Lamisil® 250 mg tablets administered as 1 x 250 mg tablet under fed conditions.
- Trial name
- NCT01286701
- Testing
- Terbinafine Hydrochloride Tablets, 250 mg
- Where
- Canada
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Dr. Reddy's Laboratories Limited
Fractures in Children, Apophysitis
Total Genotype Score, Growth, Maturation and Loading Exposure as Risk Factors for Injury in Elite Male Youth Football
A total genotype risk score was generated based on the findings of previous research for non-contact injury, non-contact muscle injury, tendon injury, ligament injury, fracture injury and apophysitis injury.
- Conditions
- Fractures in Children, Apophysitis, Muscle Strain, Ligament Injury
- Trial name
- NCT05220969
- Testing
- Total Genotype Risk Score
- Where
- 2 sites in United Kingdom
- Volunteers
- 95 people, healthy volunteers welcome
- Sponsor
- St Mary's University College
Prostate Cancer
The Prostate Cancer, Genetic Risk, and Equitable Screening Study (ProGRESS)
Prostate cancer is the most common non-skin cancer among Veterans and the second leading cause of male cancer death. Current methods of screening men for prostate cancer are inaccurate and cannot identify which men do not have…
- Trial name
- ProGRESS (NCT05926102)
- Testing
- Precision screening intervention, Usual care
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- VA Office of Research and Development
GVHD, Bone Marrow Transplant Failure
α1-antitrypsin (AAT) Levels and Functions in Allogeneic Bone Marrow Transplantation and Throughout Progression Into GVHD
Create a personalized time and context curve of patient circulating α1-antitrypsin (AAT) levels and functions before hematopoietic stem cell transplantation and throughout progression into GVHD. PRIMARY ENDPOINT 1.
- Conditions
- GVHD, Bone Marrow Transplant Failure, Alpha 1-Antitrypsin
- Trial name
- AATGVHD-MARK (NCT03188601)
- Where
- 4 sites in Israel
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Rambam Health Care Campus
Thinness, Health Behavior
How do Super Lean Subjects Keep Resistant to Body Weight Gain?
Obesity is the 5th leading cause of global death, and is major risk factors for many chronic diseases, such as type 2 diabetes, cardiovascular diseases, hypertension and cancer.
- Conditions
- Thinness, Health Behavior, Genetics
- Trial name
- NCT03221322
- Testing
- Superlean
- Where
- China
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences
Huntington Disease, Tardive Dyskinesia
A Dose-escalation Study to Evaluate the Safety, Tolerability and Pharmacokinetic of LPM3770164 in Healthy Subjects
This is a single-center, randomized, double-blinded, placebo-controlled, dose escalation trial to evaluate the safety, tolerability and pharmacokinetic of LPM3770164 sustained-release tablets orally administered in healthy…
- Trial name
- NCT05238701
- Testing
- LPM3770164 sustained release tablet, LPM3770164 sustained release tablet simulant
- Where
- China
- Volunteers
- 104 people, healthy volunteers welcome
- Sponsor
- Luye Pharma Group Ltd.
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