Clinical trials: Genetics
Skin Laxity
Ultherapy® for Treating the Face and Neck Using Standard Versus Simulines Transducers
Up to 40 participants will be enrolled, randomized and treated. Enrolled participants will receive one, split-face Ulthera® treatment on the face and neck using a Ulthera System standard transducer on one side of the face and a…
- Trial name
- NCT02416076
- Testing
- Ulthera Treatment at EL2, Ulthera Treatment at EL4
- Where
- 3 sites in United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Ulthera, Inc
Retinitis Pigmentosa, Visual Impairment
Environmental Localization Mapping and Guidance for Visual Prosthesis Users
This study is driven by the hypothesis that independent navigation by blind users of visual prosthetic devices can be greatly aided by use of an autonomous navigational aid that provides information about the environment and…
- Conditions
- Retinitis Pigmentosa, Visual Impairment, Visual Prosthesis
- Trial name
- SLAM (NCT04359108)
- Testing
- Navigation system mode: Argus Vision, Navigation system mode: Depth Vision, Navigation system mode: Depth Vision with Haptic / Audio
- Where
- 2 sites in United States
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Invasive Breast Cancer
Identification of Novel Genetic Factors That Contribute to Risk for Breast Cancer
The purpose of this study is to identify novel genetic factors which distinguish breast cancer in younger women compared to older women.
- Trial name
- NCT00276120
- Where
- United States
- Volunteers
- 4,385 people, healthy volunteers welcome
- Sponsor
- Ohio State University Comprehensive Cancer Center
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
Von Willebrand Disease (VWD), Acquired Von Willebrand Disease
Endothelial Colony-Forming Cells in Patients With VWD, AVWS and Healthy Subjects
The goal of this observational study is to learn how endothelial colony-forming cells (ECFCs) behave in people with von Willebrand disease (VWD), acquired von Willebrand syndrome (AVWS), and in healthy individuals.
- Trial name
- ECFCs/2022 (NCT07358013)
- Testing
- Blood sample collection for VWF measurements in plasma, Blood sample collection for ECFC isolation and characterization, Genetic testing of VWF
- Where
- Italy
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Healthy Volunteer, Urea Cycle Disorder
Safety and Tolerability of SYNB1020-CP-001
A Phase 1, First-in-human, Oral Single and Multiple Dose-Escalation, Randomized, Double-blinded, Placebo-controlled Study of SYNB1020 in Healthy Adult Volunteers to Evaluate Safety, Tolerability, Dosing, and Pharmacodynamics
- Trial name
- SYNB1020CP001 (NCT03179878)
- Testing
- SYNB1020
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- Synlogic
Polycystic Kidney Disease
Early PKD Observational Cohort Study
This observational study will collect blood and urine and clinical information from individuals with early-stages of polycystic kidney disease (PKD), their unaffected siblings and normal volunteers to create a biobank, also…
- Trial name
- EPOC (NCT02936791)
- Where
- 3 sites in United States
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- University of Kansas Medical Center
Hemophilia A
Evaluation of the Training Program for Community Pharmacists for Dispensing Emicizumab (HEMLIBRA®) in France
Haemophilia A (HA) is a rare constitutional haemorrhagic disease whose drug management is based on the use of chronic lifelong replacement therapy.
- Trial name
- PASODOBLEDEMI1 (NCT05449197)
- Testing
- HEMOPHAR e-learning program
- Where
- France
- Volunteers
- 363 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Communication Disorder, Healthy
Central Mechanisms in Speech Motor Control Studied With H215O PET
Positron Emission Tomography (PET) is a technique used to investigate the functional activity of the brain. The PET technique allows doctors to study the normal biochemical and metabolic processes of the central nervous system of…
- Conditions
- Communication Disorder, Healthy, Stuttering, Tourette Syndrome
- Trial name
- NCT00001308
- Where
- United States
- Volunteers
- 1,163 people, healthy volunteers welcome
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
Familial Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis
Clinical Genetics and Screening for Idiopathic Pulmonary Fibrosis
Background: Idiopathic pulmonary fibrosis (IPF) is the most common and severe form of interstitial lung disease. Between 2% and 20% of patients with IPF have a family history of the disease, which is considered the strongest risk…
- Trial name
- GENESI (NCT06521125)
- Testing
- High resolution Computed Tomography (HRCT) scans of the Chest, Pulmonary Function Testing (PFTs), Digital lung sounds auscultation
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Alpha and Beta Thalassemia, Sickle Cell Disease
Collection of Human Biospecimens for Basic and Clinical Research Into Globin Variants
Background: Blood disorders like sickle cell disease and malaria affect many people around the world. Researchers want to learn more about blood disorders.
- Conditions
- Alpha and Beta Thalassemia, Sickle Cell Disease, Malaria, Human Physiology
- Trial name
- NCT03937817
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Clear Cell Renal Cell Cancer (ccRCC), Urothelial Carcinoma (UC)
18F-T2 PET/CT Imaging for CAIX Positive Solid Tumors
The goal of this clinical trial is to evaluate the diagnostic value of CAIX protein specific probe 18F-T2 in PET/CT imaging in participants with solid tumors.
- Conditions
- Clear Cell Renal Cell Cancer (ccRCC), Urothelial Carcinoma (UC), Colorectal Cancer, Cervical Cancer
- Trial name
- NCT07557225
- Testing
- 18F-T2 PET/CT
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Peking University First Hospital
Cutis Laxa
Effectiveness and Safety of the Ulthera® System for Skin Laxity in the Lower Face, Submentum and Neck
The purpose of this study is to demonstrate superiority of treatment with the Ulthera System compared to untreated control for the improvement of skin laxity of the lower face, submental area and neck and to demonstrate the…
- Trial name
- NCT07614997
- Testing
- Ulthera System
- Where
- 7 sites in China
- Volunteers
- 218 people, healthy volunteers welcome
- Sponsor
- Merz North America, Inc.
Benign Breast Disease
Nuclear Morphology of Breast Cells in Ductal Lavage
Breast nipple aspirate fluids (NAF) are useful for non-invasive monitoring of the breast. NAF has been shown to exhibit large inter-individual differences in lipid peroxidation.
- Trial name
- NCT00259597
- Testing
- breast ductal lavage
- Where
- United States
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Overactive Bladder
ADRB3, ROCK2 and GEF Levels in Overactive Bladder Patients
Aims: To evaluate changes in levels of ADRB3, ROCK2, and GEF which have key roles in the adrenergic and cholinergic pathways of contraction-relaxation harmony in voiding physiology, and to investigate the diagnostic potential of…
- Trial name
- NCT04626960
- Where
- Turkey (Türkiye)
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Pamukkale University
Hypogonadotropic Hypogonadism, Kallmann Syndrome
Kisspeptin Administration in the Adult
The goal of this study is to learn about the role of kisspeptin in the reproductive system. Kisspeptin is a naturally occurring hormone in humans that causes the release of other hormones, including gonadotropin-releasing hormone…
- Conditions
- Hypogonadotropic Hypogonadism, Kallmann Syndrome, GnRH Deficiency, PCOS
- Trial name
- NCT00914823
- Testing
- kisspeptin 112-121, GnRH
- Where
- United States
- Volunteers
- 256 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Hailey-Hailey Disease
Skin Microbiome Profile in Hailey-Hailey Disease
"Hailey-Hailey disease is an autosomal dominant disorder caused by a genetic defect in a calcium ATPase (ATP2C1) leading to a defect in keratinocyte adhesion.
- Trial name
- NCT05007223
- Testing
- Doxycycline
- Where
- South Korea
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Gangnam Severance Hospital
Healthy
Influence of CYP2C19 Genetic Variants on Clopidogrel in Healthy Subjects
To test pharmacodynamic response to clopidogrel 150mg once daily during 7 days in healthy subjects carriers of a mutated allele (*2) associated with CYP2C19 deficiency and non responders to the usual regimen of 75 mg once daily
- Trial name
- NCT00413608
- Testing
- Clopidogrel
- Where
- France
- Volunteers
- 140 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Obesity, Wolman Disease
Breakfast for Young Women
Investigators will in a crossover study test the health effects of eating a dairy-based protein-rich breakfast, isocaloric carbohydrate-rich breakfast or no breakfast in young overweight women.
- Conditions
- Obesity, Wolman Disease, Nutrition
- Trial name
- GoDag (NCT04652713)
- Testing
- Protein-rich breakfast, Carbohydrate-rich breakfast, No breakfast
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Diabetic Retinopathy, Retinal Vein Occlusion
Computer Aided Diagnosis of Multiple Eye Fundus Diseases From Color Fundus Photograph
Blindness can be caused by many ocular diseases, such as diabetic retinopathy, retinal vein occlusion, age-related macular degeneration, pathologic myopia and glaucoma.
- Conditions
- Diabetic Retinopathy, Retinal Vein Occlusion, Retinal Artery Occlusion, Central Serous Chorioretinopathy
- Trial name
- NCT04723160
- Testing
- Software assisted imaging diagnosis
- Where
- 5 sites in China
- Volunteers
- 748 people, healthy volunteers welcome
- Sponsor
- Visionary Intelligence Ltd.