Clinical trials: Genetic Association Studies
Cystic Fibrosis-related Diabetes
EnVision CF Multicenter Study of Glucose Tolerance in Cystic Fibrosis
Cystic Fibrosis Related Diabetes has been identified by the CF community as one of the top ten priorities for CF research. In CF clinical decline due to dysglycemia begins early, prior to diagnosis of diabetes and increases…
- Trial name
- NCT03650712
- Testing
- Oral glucose tolerance test, Continuous glucose monitoring, Dexa scan
- Where
- 4 sites in United States
- Volunteers
- 317 people
- Sponsor
- Katie Larson Ode
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
Obsessive-Compulsive Disorder, Trichotillomania (Hair-Pulling Disorder)
Epidiolex in Obsessive Compulsive Disorder and Related Disorders
The primary objective of the proposed study is to evaluate the safety and efficacy of Epidiolex (cannabidiol) in adults with obsessive compulsive and related disorders (OCRDs).
- Conditions
- Obsessive-Compulsive Disorder, Trichotillomania (Hair-Pulling Disorder), Tourette Syndrome, Hoarding Disorder
- Trial name
- NCT04978428
- Testing
- Cannabidiol
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- University of Chicago
Neurofibromatosis Type 2, NF2
Selumetinib for NF2-Related Schwannomatosis
The goal of this clinical trial is to evaluate the efficacy and safety of the MEK1/2 inhibitor selumetinib in treating patients with neurofibromatosis type 2-related schwannomatosis (NF2-SWN), including both adults and children…
- Conditions
- Neurofibromatosis Type 2, NF2, NF2-related Schwannomatosis, Meningioma
- Trial name
- ASSIST (NCT07707947)
- Testing
- Selumetinib
- Where
- China
- Volunteers
- 20 people
- Sponsor
- Beijing Tiantan Hospital
Migraine
Study of the Molecular Genetics of Menstrual Migraine
The investigators hypothesize that genes that play a role in menstrual migraine can be identified using a well characterised migraine population and a comprehensive genome-wide association scan approach.
- Trial name
- NCT00904150
- Where
- United Kingdom
- Volunteers
- 585 people, healthy volunteers welcome
- Sponsor
- The City of London Migraine Clinic
Oxidative Stress in Neonates, Near Infrared Spectroscopy
Transfusion-Related Changes in Oxidative Stress Biomarkers in Neonates
Reactive oxygen species (ROS), which include peroxides, are generated in the human body as by-products of cellular metabolism. In small amounts, they fulfill important physiological functions.
- Conditions
- Oxidative Stress in Neonates, Near Infrared Spectroscopy, Fetal Hemoglobin, Erythrocyte Transfusion
- Trial name
- NEO-REDOX (NCT07672275)
- Testing
- Peroxide analysis-TOC Omnignostica Forschungs GmbH, Near Infrared Imaging
- Where
- Austria
- Volunteers
- 170 people, healthy volunteers welcome
- Sponsor
- Medical University of Graz
Lysosomal Acid Lipase Deficiency
Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency
This was an open-label, repeat-dose, study of sebelipase alfa in infants with rapidly progressive lysosomal acid lipase deficiency (LAL-D). Eligible participants received once-weekly infusions of sebelipase alfa for up to 3 years.
- Trial name
- NCT02193867
- Testing
- Sebelipase Alfa
- Where
- 5 sites in United States, Finland and 2 more
- Volunteers
- 10 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Corticosteroid Induced Ocular Hypertension/Glaucoma
Gene Polymorphisms of Corticosteroid-induced Ocular Hypertension
Glaucoma is one of the most prevalent eye diseases and the second most common cause of blindness worldwide. The most common form is primary open angle glaucoma (POAG).
- Trial name
- NCT03250819
- Testing
- SNP analysis
- Where
- Netherlands
- Volunteers
- 370 people
- Sponsor
- Maastricht University Medical Center
Sickle Cell Disease
Study to Assess Safety and Impact of SelG1 With or Without Hydroxyurea Therapy in Sickle Cell Disease Patients With Pain Crises
The purpose of this study was to determine whether the investigational drug SelG1 when given to sickle cell disease patients either taking or not taking hydroxyurea was effective in preventing or reducing the occurrence of pain…
- Trial name
- SUSTAIN (NCT01895361)
- Testing
- SelG1
- Where
- 56 sites in United States, Brazil and 1 more
- Volunteers
- 198 people
- Sponsor
- Reprixys Pharmaceutical Corporation
Attention Deficit Hyperactivity Disorder
Molecular Studies on the Candidate Genes of Dopaminergic and Noradrenergic Systems in ADHD
The ultimate goal of this study is to find specific polymorphism of candidate genes associated with endophenotypes and/or phenomenological phenotypes of ADHD.
- Trial name
- NCT00756158
- Where
- Taiwan
- Volunteers
- 100 people
- Sponsor
- National Taiwan University Hospital
Sleep Apnea, Obstructive
The Phenotyping and Genotyping of Taiwanese Patients With Obstructive Sleep Apnea
The growing evidence showed that the OSA is a heritable complex genetic disease where the genetic basis contributed the development of OSA and its sequel. The phenotyping of OSA include high level and intermediate level.
- Trial name
- NCT02038751
- Where
- Taiwan
- Volunteers
- 360 people
- Sponsor
- National Taiwan University Hospital
SCAR
An Exploratory Study of Genetic and Clinical Factors for Serious Skin Reactions Among Users of Eslicarbazepine Acetate
The reason for this study is to understand if people with certain genes are predisposed to develop severe skin reactions after they are administered Eslicarbazepine Acetate.
- Trial name
- NCT02520557
- Testing
- Blood or Saliva
- Where
- United States
- Volunteers
- 121 people
- Sponsor
- Sumitomo Pharma America, Inc.
Autism, Autism Spectrum Disorder
A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Autism
This study seeks to correlate microbiome sequencing data with information provided by patients and their medical records regarding autism.
- Conditions
- Autism, Autism Spectrum Disorder, Autistic Disorder, Autism, Akinetic
- Trial name
- NCT04100863
- Testing
- No Intervention
- Where
- United States
- Sponsor
- ProgenaBiome
Mycobacterium Infections, Nontuberculous
Genome-Wide Association Study in Patients With Nontuberculous Mycobacterial Lung Disease
The aim of this study was to elucidate genetic susceptibility of patients with nontuberculous mycobacterial lung disease using genome-wide association study.
- Trial name
- NCT02832843
- Where
- South Korea
- Volunteers
- 2,808 people, healthy volunteers welcome
- Sponsor
- Seoul National University Hospital
Dystonia, Dystonia; Idiopathic
Dystonia Genotype-Phenotype Correlation
The purpose of this study is to (1) investigate the effect of known dystonia-causing mutations on brain structure and function, to (2) identify structural brain changes that differ between clinical phenotypes of dystonia, and to…
- Conditions
- Dystonia, Dystonia; Idiopathic, Dystonia, Primary, Dystonia, Secondary
- Trial name
- NCT03428009
- Testing
- Magnetic Resonance Imaging
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
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
Dilated Cardiomyopathy, Obesity
Association of Obesity and Cardiovascular Outcomes in Dilated Cardiomyopathy
In this study, the investigators evaluated the association between various measures of adiposity [BMI and waist circumference (WC)] and clinical outcomes in Asian patients with dilated cardimyopathy, using a nationwide population…
- Conditions
- Dilated Cardiomyopathy, Obesity, Cardiovascular Morbidity
- Trial name
- Paradox (NCT05645952)
- Testing
- Clinical follow up of hypertrophic cardiomyopathy
- Where
- South Korea
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- Ajou University School of Medicine
Multiple Sclerosis, Spinal Cord Injury
Power Over Pain (POP) Study
Many individuals with multiple sclerosis (MS), spinal cord injury (SCI), acquired amputation (AMP), muscular dystrophy (MD), and low back pain (LBP) experience pain. There has been little research on how to treat this pain.
- Conditions
- Multiple Sclerosis, Spinal Cord Injury, Chronic Pain, Other and Unspecified Amputation Stump Complications
- Trial name
- POP (NCT01800604)
- Testing
- Pain Self-Management Intervention #1, Pain Self-Management Intervention #2, Pain Self-Management Intervention #3
- Where
- United States
- Volunteers
- 177 people
- Sponsor
- University of Washington
VEXAS Syndome, Autoinflammatory Disease
Autoimmune and Autoinflammatory Genetics Study
This is an exploratory natural history protocol that will enroll patients with known genetic diseases, such as VEXAS syndrome, or as yet undiagnosed disorders of inflammation with the goal of improving our understanding of…
- Conditions
- VEXAS Syndome, Autoinflammatory Disease, Autoimmune Disease, Rheumatic Disease
- Trial name
- NCT06004349
- Where
- 2 sites in United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- NYU Langone Health
Anesthesia, Surgical Procedure, Operative
The Bern Perioperative Biobank
The goal of the research is to define clinically relevant molecular markers for increased risk of peri-/ postoperative organo-dysfunctions, inflammation, adverse events and disease progression.
- Trial name
- BPBB (NCT04767685)
- Where
- Switzerland
- Volunteers
- 547 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern