Clinical trials: Genetic Conditions
Tourette Syndrome, Habit Reversal Training
Extinction Learning in Adults With Tourette Syndrome
Aversive sensory phenomena such as premonitory urges play a central role in the behavioral treatment model of tics. Extinction learning and extinction recall are learning processes implicated within this model, but are still…
- Conditions
- Tourette Syndrome, Habit Reversal Training, Tic Disorders, Tics
- Trial name
- NCT04498364
- Testing
- Habit Reversal Training
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Barrett's Esophagus, Esophageal Neoplasm
Genetic Determinants of Barrett's Esophagus and Esophageal Adenocarcinoma
The overall objectives of this BETRNet Research Center (RC) are: 1. to conduct a rigorous, integrated spectrum of transdisciplinary human research in Barrett's esophagus (BE) and esophageal adenocarcinoma (ECA) 2.
- Trial name
- FBE (NCT00288119)
- Testing
- Balloon Capsule Device, Endoscopy
- Where
- 10 sites in United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Case Western Reserve University
Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men, Hot Flashes
A Study to Learn How Safe the Study Treatment Elinzanetant is and How it Moves Into, Through and Out of the Body When Given as Single Increasing Doses That Are Higher Than Normally Used Compared to Placebo and Moxifloxacin in Healthy Participants
Researchers are looking for a better way to treat vasomotor symptoms, a condition of having hot flashes. The condition is caused by hormonal changes and occurs primarily in women, but can also affect men.
- Conditions
- Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men, Hot Flashes, Healthy Volunteers
- Trial name
- NCT05481528
- Testing
- Moxifloxacin, Elinzanetant (BAY3427080)
- Where
- Germany
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Bayer
HER2-positive Breast Cancer
PIK3CA in HER2+ BC and pCR Trial
The goal of the study is to evaluate the impact of somatic PI3KCA mutations on pCR in HER2-positive early breast cancer in real life. The main question it aims to answer iS.
- Trial name
- NCT05750693
- Testing
- PIK3CA analysis
- Where
- Italy
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Prostatitis, Cystitis, Interstitial
Linkage Analysis in Interstitial Cystitis
Urologic pelvic pain syndrome (UCPPS), variably termed painful bladder syndrome/interstitial cystitis (PBS/IC) in females and chronic prostatitis/chronic pelvic pain syndrome in men (CP/CPPS), is a chronic, debilitating clinical…
- Conditions
- Prostatitis, Cystitis, Interstitial, Urinary Bladder, Overactive, Chronic Pelvic Pain Syndrome
- Trial name
- IC (NCT00675298)
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
Pancreatic Exocrine Insufficiency
The Development of a Metabolomic Test to Diagnose and Quantify Pancreatic Exocrine Insufficiency (The DETECTION Study)
DETECTION. The development of a metabolomic test to diagnose and quantify pancreatic exocrine insufficiency.
- Trial name
- DETECTION (NCT05980221)
- Testing
- Metabolomics, 13C MTGT
- Where
- United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University Hospital Birmingham NHS Foundation Trust
WAGR Syndrome, Wilm's Tumor
Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of…
- Conditions
- WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities
- Trial name
- NCT00758108
- Where
- United States
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Inherited Metabolic Disorders, Undiagnosed Diseases
Caregiving Networks Across Disease Context and the Life Course
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs
- Trial name
- NCT05007990
- Where
- United States
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Coronary Artery Disease, Genetic Predisposition to Disease
Genetic Risk Stratification for Primary Prevention of CAD in Men and Pre & Post-menopausal Women
The investigators propose to genotype males and females at age 40 years and older, who are asymptomatic and without known heart disease (N=2000).
- Trial name
- NCT05169840
- Testing
- Genetic Risk Score for Coronary Artery Disease
- Where
- 3 sites in United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- St. Joseph's Hospital and Medical Center, Phoenix
Rotavirus, Diarrhea
Response to Rotavirus Vaccine in Infants in Ho Chi Minh City in Vietnam
The primary objective is to measure the effect of host human genetics on the resulting immunological responses and long-term protection following rotavirus immunization of a study population of infants in Ho Chi Minh City…
- Trial name
- NCT03587389
- Testing
- Rotarix vaccine
- Where
- Vietnam
- Volunteers
- 818 people, healthy volunteers welcome
- Sponsor
- Oxford University Clinical Research Unit, Vietnam
Coronary Heart Disease
Rapid Engagement for Solutions to Population and Outcomes Through Networked Dialogue for Coronary Heart Disease
Cardiometabolic diseases are major causes of morbidity and mortality in the state of Wisconsin and are expected to pose an increasing burden over the next few decades.
- Trial name
- RESPOND (NCT07260552)
- Testing
- Polygenic risk score
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Medical College of Wisconsin
Hemophilia A, Hemophilia B
Gaining Insight Into the Complexity of Pain in Patients With Haemophilia
Joint pain has been reported as a major problem in people with haemophilia (PwH). Therefore, haemophilia in adults seems clinically more related to a musculoskeletal disorder than a bleeding disorder, with many patients reporting…
- Trial name
- NCT05606640
- Testing
- Biopsychological pain assessment
- Where
- 2 sites in Belgium
- Volunteers
- 104 people, healthy volunteers welcome
- Sponsor
- Universiteit Antwerpen
Disorder of Sex Development, Intersex Conditions
Decision Support for Parents Receiving Information About Child's Rare Disease
The birth of a child with a disorder of sex development (DSD) is stressful for parents and members of the healthcare team. The "right" decisions about gender assignment (is it a boy? a girl?) and the best course of action (e.g.…
- Conditions
- Disorder of Sex Development, Intersex Conditions, Congenital Adrenal Hyperplasia, Hypospadias
- Trial name
- DSD DST (NCT01875640)
- Where
- 4 sites in United States
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Sickle Cell Disease
Sickle Cell Pro-Inflammatory Response to Interval Training Study
Recommendations for exercise prescription currently do not exist for individuals with sickle cell anemia (SCA) despite the known impact that SCA-related complications has on physical functioning and fitness.
- Trial name
- SPRINTS (NCT03653676)
- Testing
- Exercise Test (CIIT)
- Where
- 3 sites in United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Ann & Robert H Lurie Children's Hospital of Chicago
Cellulite
Treatment for Cellulite Appearance
Open-label, non-randomized, prospective, multi-center, self-controlled clinical study with masked evaluation.
- Trial name
- NCT05358847
- Testing
- Sofwave
- Where
- 4 sites in United States
- Volunteers
- 69 people, healthy volunteers welcome
- Sponsor
- Sofwave Medical LTD
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
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)
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
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
Low Back Pain
Genetic Predisposition for Chronic Non-specific Low Back Pain
Patients with inflammatory back pain were shown to differ from healthy controls in genotype of the Angiotensin-converting enzyme (ACE), which regulates vasoconstriction/-dilatation.
- Trial name
- Backgene (NCT02955407)
- Testing
- no intervention
- Where
- Switzerland
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Balgrist University Hospital
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