Clinical trials: Genetic Association Studies
GATA2 Deficiency
Natural History Study of GATA2 Deficiency and Related Disorders
Background: GATA2 deficiency is a genetic disorder that can cause problems with a person s immune system and other body systems. Some people who have this disorder develop few problems from it.
- Trial name
- NCT01905826
- Where
- United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Multiple Endocrine Neoplasia Type 1, Pancreatic Neuroendocrine Tumor
EUS-FNI for MEN1-related Pancreatic Neuroendocrine Tumors
The present study aims to evaluate the feasibility, safety and efficacy of EUS-FNI for MEN1-related pNETs
- Trial name
- NCT05554744
- Testing
- EUS-guided fine-needle injection
- Where
- China
- Volunteers
- 20 people
- Sponsor
- Guangxi Medical University
Chronic Obstructive Pulmonary Disease
Boston Early-Onset Chronic Obstructive Pulmonary Disease (COPD) Study
Chronic obstructive pulmonary disease (COPD) is often caused by cigarette smoking, but genetic predisposition also influences COPD susceptibility.
- Trial name
- NCT01177618
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- Brigham and Women's Hospital
Sickle Cell Disease, Sickle Cell Anemia
Sickle Cell Disease (SCD) Bone Pain Study
A prospective study to determine how low bone mineral density and/or vertebral compression fractures associate with pain in adults with sickle cell disease
- Conditions
- Sickle Cell Disease, Sickle Cell Anemia, Low Bone Density, Osteoporosis
- Trial name
- NCT05283148
- Testing
- Dual-energy X-ray absorptiometry, Vertebral fracture analysis, Adult Sickle Cell Quality of Life Measurement System pain impact questionnaire
- Where
- United States
- Volunteers
- 53 people
- Sponsor
- University of California, Davis
Suicidal Behaviour
Molecular Genetics of Suicidal Behavior
Suicide is a major health problem that causes annually a million death worldwide. In the stress-vulnerability model, suicidal behavior (SB) results from the interaction between an individual's predisposition and stressful…
- Trial name
- NCT02858635
- Testing
- Clinical and neuropsychological assessment, Blood and saliva samples
- Where
- France
- Volunteers
- 1,982 people
- Sponsor
- University Hospital, Montpellier
Fanconi Anemia
Experience and Management of Cancer Screening-Related Anxiety in Fanconi Anemia
Background: Fanconi anemia (FA) is a rare, inherited cancer syndrome. FA causes a range of physical issues. Children with FA may have abnormal features; these may include a small head and eyes and issues with their internal…
- Trial name
- NCT06744283
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- National Cancer Institute (NCI)
Choroidal Neovascularization, Myopia
Intravitreal Bevacizumab vs.Combination Therapy for CNV Due to Other Than AMD
Anti-VEGF therapy has been proven efficacious for the wet (neovascular) form of macular degeneration and may be beneficial for the treatment of choroidal neovascularization (CNV) due to other causes.
- Conditions
- Choroidal Neovascularization, Myopia, Punctate Inner Choroidopathy (PIC), Multifocal Choroiditis
- Trial name
- CNV (NCT01256580)
- Testing
- Bevacizumab (Avastin; Genentech, Inc.), Bevacizumab, Dexamethasone, Verteporfin Photodynamic Therapy
- Sponsor
- Massachusetts Eye and Ear Infirmary
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
Alzheimer's Disease, Mild Cognitive Impairment
Retinal Imaging in Neurodegenerative Disease
This study aims to develop and evaluate biomarkers using non-invasive optical coherence tomography (OCT) and OCT angiography (OCTA) as well as ultra-widefield (UWF) fundus photography to assess the structure and function of the…
- Conditions
- Alzheimer's Disease, Mild Cognitive Impairment, Parkinson's Disease, Multiple Sclerosis
- Trial name
- NCT03233646
- Testing
- Retinal and Choroidal Imaging
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Duke University
Cystic Fibrosis, Diabetes Related Cystic Fibrosis
Metabolic Efficiency of Combined Pancreatic Islet and Lung Transplant for the Treatment of End-Stage Cystic Fibrosis
Patients with end-stage cystic fibrosis (CF) and severe CF-related diabetes (CFRD) may benefit from combined lung-pancreatic islet transplantation.
- Conditions
- Cystic Fibrosis, Diabetes Related Cystic Fibrosis, Insulin-dependent Diabetes
- Trial name
- PIM (NCT01548729)
- Testing
- Combined pancreatic islet and lung transplantation
- Where
- 28 sites in France
- Volunteers
- 14 people
- Sponsor
- University Hospital, Strasbourg, France
Retinoblastoma Bilateral, Retinoblastoma Unilateral
Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.
The goal of this observational study is undertake a detailed phenotypic and genotypic study of patients with ocular and secondary cancers due to mutations in the RB1 gene.
- Conditions
- Retinoblastoma Bilateral, Retinoblastoma Unilateral, Retinoblastoma, Extraocular, Retinoblastoma, Recurrent
- Trial name
- NCT06725173
- Testing
- Targeted Long-read sequencing
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Washington
Diabetes Mellitus
Observational Study to Assess Glycosylated Hemoglobin Changes After 6 Months of Treatment With Pioglitazone.
The purpose of this study is to asses changes in glycosylated hemoglobin, fasting blood lipids and genetic polymorphism's in peroxisomal proliferator activated receptors--gamma receptor after 6 months of pioglitazone, once daily…
- Trial name
- NCT00449553
- Testing
- Pioglitazone and sulphonylurea, Pioglitazone and metformin
- Where
- 4 sites in Denmark, Iceland and 2 more
- Volunteers
- 326 people
- Sponsor
- Takeda
Pain, Chronic Pain
Observational Study of the Impact of Genetic Testing on Healthcare Decisions and Care in Interventional Pain Management
The purpose of this study is to evaluate the impact of genetic testing on healthcare decisions and patient outcomes in interventional pain management clinical care.
- Conditions
- Pain, Chronic Pain, Back Pain, Nociceptive Pain
- Trial name
- MOSAIC (NCT02485795)
- Testing
- Observational
- Where
- 31 sites in United States
- Volunteers
- 50,000 people
- Sponsor
- Proove Bioscience, Inc.
Hyperparathyroidism, Hypercalcemia
Studies of Elevated Parathyroid Activity
Observational Phase: Patients whose parathyroid activity is elevated above normal are referred to as having hyperparathyroidism.
- Conditions
- Hyperparathyroidism, Hypercalcemia, Parathyroid Neoplasm, Multiple Endocrine Neoplasia
- Trial name
- NCT00001277
- Testing
- 68Ga-Dotatate, 18F-DOPA
- Where
- United States
- Volunteers
- 1,553 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Alzheimer Disease, Late Onset Alzheimer Disease
Alzheimer's Disease Genetics Study
The purpose of the Alzheimer's Disease Genetics Study is to identify the genes that are responsible for causing Alzheimer's Disease (AD).
- Conditions
- Alzheimer Disease, Late Onset Alzheimer Disease, Dementia
- Trial name
- NCRAD (NCT00064870)
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Indiana University
Bipolar Disorder, Depression
Brain Tissue Collection for Neuropathological Studies
The purpose of this study is to collect and study the brain tissue of deceased individuals to learn more about the nervous system and mental disorders.
- Conditions
- Bipolar Disorder, Depression, Anxiety Disorders, Schizophrenia
- Trial name
- NCT00001260
- Where
- 3 sites in United States
- Volunteers
- 2,161 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Stargardt Disease, Stargardt Macular Degeneration
Open-Label Extension: Tolerability and Effects of ALK-001 on Stargardt Disease (TEASE)
The purpose of this open-label, multicenter study is to determine the long-term safety, pharmacokinetics and effects of ALK-001 (C20-D3-retinyl acetate) on the progression of Stargardt disease.
- Conditions
- Stargardt Disease, Stargardt Macular Degeneration, Stargardt Macular Dystrophy, Autosomal Recessive Stargardt Disease 1 (ABCA4-related)
- Trial name
- NCT04239625
- Testing
- ALK-001
- Where
- 8 sites in United States
- Volunteers
- 200 people
- Sponsor
- Alkeus Pharmaceuticals, Inc.
HIV Infections
A Study of Zidovudine in HIV-Infected Patients Who Have Hemophilia
Study A: To determine whether treatment with zidovudine (ZDV) will delay or change the disease process in hemophilic patients who have HIV infection with no symptoms.
- Trial name
- NCT00001104
- Testing
- Zidovudine
- Where
- 23 sites in United States
- Volunteers
- 538 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
ICD, Arrythmia
Genome-Wide Association Study With the Aim of Implantable Cardioverter Defibrillator Implantation Genophenotypic Risk Stratification
This clinical study will be conducted with funding from European Innovation Council(EIC) after approval of the fund grant and is part of our organization's European Pathfinder Project(Ref…
- Conditions
- ICD, Arrythmia, Sudden Cardiac Death
- Trial name
- ICDGPSS (NCT05582252)
- Testing
- Non-Invasive saliva sampling
- Where
- Turkey (Türkiye)
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- Selcuk University
Rheumatoid Arthritis, Periodontitis
Study of the Causal Link Between Rheumatoid Arthritis and Periodontitis Using Mendelian Randomization
This study aims to investigate the causal relationship between rheumatoid arthritis and periodontitis using Mendelian randomization.
- Trial name
- RAPD-MR (NCT06603207)
- Volunteers
- 220,000 people
- Sponsor
- Zhibin Xu