Clinical trials: Genetic Association Studies
Retinal Disease, AMD
Cell Collection to Study Eye Diseases
Background: Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina, the light sensing area at the back of the eye.
- Conditions
- Retinal Disease, AMD, Retinal Degeneration, Retinitis Pigmentosa
- Trial name
- NCT01432847
- Where
- United States
- Volunteers
- 930 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Cardiac Event, Klinefelter Syndrome
TyG Index Levels in Klinefelter Syndrome
It is well known that the frequency of cardiometabolic diseases are increased in patients with Klinefelter Syndrome. The triglyceride-glucose index (TyG index) is a simple surrogate marker of insulin resistance and is also…
- Conditions
- Cardiac Event, Klinefelter Syndrome, Endothelial Dysfunction
- Trial name
- NCT05014997
- Testing
- no intervention
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Gulhane School of Medicine
Healthy Subjects, Heme Oxygenase
Effects of Heme Arginate in Healthy Male Subjects
Heme oxygenase 1 (HO-1) serves as a protective gene. It has been shown that one factor modulating HO-1 activity is a genetic variation in the HO-1 gene (functional GT length polymorphism in the promotor region).
- Conditions
- Healthy Subjects, Heme Oxygenase, Genetic Polymorphism
- Trial name
- HEMAHS (NCT00682370)
- Testing
- saline solution, heme arginate
- Where
- Austria
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Daniel Doberer
Familial Mediterranean Fever (FMF), Autoinflammation
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases.
- Conditions
- Familial Mediterranean Fever (FMF), Autoinflammation, Periodic Fever, Fever
- Trial name
- NCT00001373
- Where
- 5 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Primary Pulmonary Lymphoepithelioma-like Carcinoma
The Chinese Pulmonary Lymphoepithelioma-like Carcinoma Collaboration Study
This retrospective case-control study aims to investigate the genetic mechanisms of primary Pulmonary Lymphoepithelioma-like Carcinoma, identify genetic susceptibility loci associated with its onset, and explore potential…
- Trial name
- CPLCC (NCT06801977)
- Testing
- Genome-wide genotyping
- Where
- 2 sites in China
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Sun Yat-sen University
Bipolar and Related Disorders
Enhancing Cognitive Reserve of the Offsprings of Bipolar and Schizophrenic Patients
The high hereditary component and the contribution of neurodevelopmental processes in bipolar disorder and schizophrenia means implies the children of these patients are considered a high risk population for both diseases and…
- Trial name
- NCT03722082
- Testing
- Enhancing Cognitive Reserve, Support intervention
- Where
- Spain
- Volunteers
- 173 people, healthy volunteers welcome
- Sponsor
- Hospital Clinic of Barcelona
Post-Acute COVID-19 Syndrome, ME/CFS
Unhide® Project: A Digital Health Platform to Collect Lifestyle Data for Brain Inflammation Research
The unhide® Project is a non-interventional, longitudinal research study designed to establish a secure data repository of demographic, health, and lifestyle information from individuals with brain inflammation and related…
- Conditions
- Post-Acute COVID-19 Syndrome, ME/CFS, Rheumatic Arthritis, Juvenile Rheumatoid Arthritis (JRA)
- Trial name
- NCT04806620
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Brain Inflammation Collaborative
Healthy, Immune System and Related Disorders
The Healthy Human Global Project - Hong Kong (HHGP-Hong Kong)
The Healthy Human Global Project-Hong Kong aims to elucidate the heritable and non-heritable factors that drive immunological variance within a healthy population in Hong Kong.
- Trial name
- NCT05174624
- Testing
- No intervention
- Where
- China
- Volunteers
- 1,026 people, healthy volunteers welcome
- Sponsor
- Centre for Immunology & Infection
Retinitis Pigmentosa, Macula Off
Transcorneal Electrical Stimulation Therapy for Retinal Disease
Transcorneal stimulation may enable neurons to survive degeneration processes via enhanced secretion of neurotrophic substances and direct stimulation of neurons.
- Conditions
- Retinitis Pigmentosa, Macula Off, Primary Open Angle Glaucoma, Hereditary Macular Degeneration
- Trial name
- NCT00804102
- Testing
- Transcorneal Electrical Stimulation, DTL-electrode attached without energy
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Okuvision GmbH
Rett Syndrome
Functional Abilities in Rett Syndrome
The purpose of this study is to evaluate and determinate the functional abilities in Rett syndrome conforming to the established Pediatric Evaluation of Disability Inventory (PEDI).
- Trial name
- NCT00630422
- Where
- Brazil
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Faculdades Metropolitanas Unidas
Aging, Skin Laxity
Association of Leucocyte Telomere Length With DPAS Score in Skin Aging
The goal is to know the profile of photoaging based on clinical examination, Dermoscopic Photoaging Scale and leucocyte telomere length The main questions of Research are: what is the profile of photoaging based on clinical…
- Trial name
- NCT06501547
- Testing
- Leucocyte Telomere Length from blood draw
- Where
- 3 sites in Indonesia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Dr.dr.Irma Bernadette, SpKK (K)
Pulmonary Disease, Chronic Obstructive, Emphysema
Examining the Genetic Factors That May Cause Chronic Obstructive Pulmonary Disease (COPD)
Chronic obstructive pulmonary disease (COPD) is a long-term lung disease that is often caused by cigarette smoking. The purpose of this study is to evaluate whether certain genetic factors predispose some smokers to develop COPD…
- Conditions
- Pulmonary Disease, Chronic Obstructive, Emphysema, Bronchitis, Chronic
- Trial name
- COPDGene (NCT00608764)
- Where
- 20 sites in United States
- Volunteers
- 10,718 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Retinitis Pigmentosa, Retinal Degeneration
The Effects of Cannabis on Visual Functions in Healthy and Retinitis Pigmentosa Patients
Medical Marijuana is used widely, and its effects on the visual system and the function of the retina have not been investigated thoroughly.
- Conditions
- Retinitis Pigmentosa, Retinal Degeneration, Cannabis
- Trial name
- NCT03078309
- Testing
- cannabis
- Where
- Israel
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Age - Related Macular Degeneration (AMD), Diabetic Macular Edema
Wide Field OCTA in Ocular Diseases
The main retinal diseases, whether or not associated with specific mutations genetic, cause progressive degeneration of vascular retinal structures and not vascular, resulting in decreased visual function.
- Conditions
- Age - Related Macular Degeneration (AMD), Diabetic Macular Edema, Diabetic Retinopathy, Myopia
- Trial name
- WOOD-2025 (NCT07298174)
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
Functional Gastrointestinal Disorders
Effect of Controlled Diet Combined With a Fermented Milk Product on Gas-related Symptoms
To select among different dietary and clinical conditions the most appropriate to assess the impact of a fermented milk product on gas-related symptoms
- Trial name
- FLATBACK (NCT02936713)
- Testing
- Fermented milk product with probiotics (FMPP)
- Where
- Spain
- Volunteers
- 126 people, healthy volunteers welcome
- Sponsor
- Danone Global Research & Innovation Center
T2DM
The Imaging Genetic Study of Type 2 Diabetes and Depression
To investigate the structural/functional abnormalities and the possible genetic endophenotypes of in the Type 2 Diabetes Patient With Depression.
- Trial name
- NCT03564431
- Testing
- Magnetic resonance
- Where
- China
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Kunming Medical University
Stroke, Genetic Association Studies
Genetic Variants in Stroke
Stroke is the leading cause of death and disability in Brazil and worldwide, with a significant socioeconomic impact. Despite advances in prevention and treatment, the role of genetic variants in ischemic stroke remains…
- Trial name
- ÁRTEMIS-Brasil (NCT07186517)
- Where
- 11 sites in Brazil
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Hospital Moinhos de Vento
Hemophilia, Arthropathy of Knee
Evaluation of Static Postural Balance in Children With Hemophilia and Its Relationship With Joint Health
Hemophilia is a rare hematological disorder characterized by a partial or complete deficiency of clotting factor VIII or IX.Bleeding disorders mainly affect the musculoskeletal system.
- Conditions
- Hemophilia, Arthropathy of Knee, Arthropathy of Ankle or Foot
- Trial name
- NCT04406519
- Where
- Turkey (Türkiye)
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Necmettin Erbakan University
Tobacco Use Disorder
A Brain Imaging Study Into Nicotine Induced Dopamine Release in Cigarette Smokers.
Dopamine (DA) plays a critical role in nicotine (and other) addiction and this drug is known to release DA in brain areas mediating reward and motivational processes.
- Trial name
- NCT00396669
- Testing
- Bupropion
- Where
- Israel
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Intrahepatic Cholestasis of Pregnancy, Genetic Mutation
Bile Acids Metabolism and Genetic Mutation Profile in the Intrahepatic Cholestasis of Pregnacy in Indian Population
Intrahepatic cholestasis of pregnancy (ICP) is a disorder characterized by itching, elevated fasting serum bile acids ≥10μmol/L (and elevated serum transaminases), with increased risks of perinatal complications, including…
- Conditions
- Intrahepatic Cholestasis of Pregnancy, Genetic Mutation, Health Related Quality of Life
- Trial name
- ICP (NCT05691036)
- Where
- India
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Post Graduate Institute of Medical Education and Research, Chandigarh