Clinical trials: Genetic Conditions
Tryptophan Metabolism Alterations, Polymorphism
Effect of Genetic Alterations Affecting the Genes Encoding the Major Enzymes of the Kynurenine Pathway on Suicidal Behavior
Current research has shown that an imbalance in the Kynurenine pathway plays a role in the physiopathology of neurogenerative and mental disorders (with a decrease in neuroprotective metabolites and an increase in neurotoxic…
- Conditions
- Tryptophan Metabolism Alterations, Polymorphism, Suicidal Behavior
- Trial name
- SuiKYN (NCT04565834)
- Testing
- SNP (single nucleotide polymorphism) genotyping
- Where
- 2 sites in France, Spain
- Volunteers
- 849 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Nīmes
Turner Syndrome, Ovarian Failure, Premature
Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure
Premature ovarian failure (POF) is known to be associated with an increased risk of ocular surface disease (dry eye), likely due to the reduction of both estrogens and androgens seen in this condition.
- Conditions
- Turner Syndrome, Ovarian Failure, Premature, Sex Chromosome Aberrations, Menopause
- Trial name
- NCT00471731
- Where
- United States
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Myopathy
Maintenance of Muscle Mass in Older People: the Negative Impact of Statin Therapy
A major contributor to frailty and immobility in the elderly is the age related loss of muscle mass (sarcopenia). Cardiovascular disease (CVD) is the leading cause of mortality in the elderly, with high blood cholesterol and…
- Trial name
- NCT01047163
- Where
- United Kingdom
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- University of Nottingham
Prostate Cancer, Familial Prostate Cancer
Prostate Cancer Prevention Clinic for Men With Risk of Familial Prostate Cancer
Secondary prevention of prostate cancer (PCa) is not standardized and high-risk groups at the time of diagnosis are not well defined.
- Trial name
- ProFam-Risk (NCT05681416)
- Testing
- Panel sequencing, whole exome sequencing, whole genome sequencing
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Heinrich-Heine University, Duesseldorf
Atrial Fibrillation
Investigation of Genetic Risk of Atrial Fibrillation
The atrial fibrillation (AF) is the most common cardiac rhythm disturbance that is responsible for substantial morbidity and mortality independent of associated heart disease or other risk factors.
- Trial name
- NCT00412438
- Where
- Japan
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Nagoya University
Gout, Hyperuricemia
The Effect of Naproxen on the Pharmacokinetic Profile of LC350189 in Healthy Adults
This is a Phase 1, open-label, fixed-sequence, 3-period, 2-way drug interaction study designed to assess the pharmacokinetics, pharmacodynamics, safety, and tolerability of LC350189 and Naproxen when administered alone and in…
- Trial name
- NCT04139824
- Testing
- Xanthine Oxidase Inhibitor, nonsteroidal anti-inflammatory drug
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- LG Chem
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)
NOMID, DIRA
Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases)
Background: Some diseases cause chronic inflammation with intermittent flares in the body. These are called autoinflammatory diseases. They can cause fevers, rashes, ulcers, and other problems.
- Conditions
- NOMID, DIRA, NLRC4-MAS, SAVI
- Trial name
- NCT02974595
- Where
- United States
- Volunteers
- 3,200 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Acidosis, Renal Tubular, Nephrolithiasis
Influence of Polymorphisms in the ATP6V1 Gene of the V-ATPase on the Development of Incomplete Distal Renal Tubular Acidosis
Purpose 1. To compare the performance of the two currently employed urinary acidifications tests in stone formers, the furosemide/fludrocortisone and ammonium chloride loading test. 2.
- Conditions
- Acidosis, Renal Tubular, Nephrolithiasis, Vacuolar Proton-Translocating ATPases
- Trial name
- NCT01690039
- Testing
- Furosemide-Fludrocortisone-Test (test for urinary acidification)
- Where
- Switzerland
- Volunteers
- 170 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Kallmann Syndrome, Hypogonadotropic Hypogonadism
Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate
The purpose of this study is to explore the genetic basis of reproductive disorders and cleft lip and/or palate.
- Conditions
- Kallmann Syndrome, Hypogonadotropic Hypogonadism, Hypothalamic Amenorrhea, Polycystic Ovarian Syndrome
- Trial name
- NCT01601171
- Where
- Switzerland
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire Vaudois
X-Linked Genetic Diseases, Autosomal Recessive Disorder
Mackenzie's Mission: The Australian Reproductive Carrier Screening Project
This study will investigate reproductive genetic carrier screening (RGCS) in 10,000 couples across Australia. Carrier screening for approximately 1300 genes associated with severe, childhood-onset, X-linked and autosomal…
- Trial name
- NCT04157595
- Testing
- Reproductive Genetic Carrier Screening
- Where
- 24 sites in Australia
- Volunteers
- 18,302 people, healthy volunteers welcome
- Sponsor
- Murdoch Childrens Research Institute
Hyperuricemia
ALLN-346 Single Ascending Dose (SAD) Study in Healthy Volunteers
The purpose of this study is to evaluate the safety of ALLN-346 in healthy volunteers, in this first in human, single ascending dose study. ALLN-346 is an enzyme that degrades urate in the gastrointestinal tract.
- Trial name
- SAD (NCT04236219)
- Testing
- ALLN-346
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Allena Pharmaceuticals
Obesity
Genetic Influences Between Cognitive Function and BMI
In this study the investigators will interrogate an existing data set to examine whether genetic variants contribute to an inverse association between weight status and cognitive function.
- Trial name
- NCT03116334
- Where
- United States
- Volunteers
- 869 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Arrhythmic Right Ventricular Cardiomyopathy
Isoproterenol Challenge to Detect Arrhythmogenic Right Ventricular Cardiomyopathy
This study will examine the usefulness of a new test called an isoproterenol challenge in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) and family members who may have the disease but do not have clear-cut…
- Trial name
- NCT00083395
- Where
- United States
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- National Institutes of Health Clinical Center (CC)
PSP, PSP - Progressive Supranuclear Palsy
The CurePSP Genetics Program
This study is an observational, prospective genetic study. It aims to obtain DNA for research and testing from patients with PSP, CBS, MSA, and related neurological conditions and their families.
- Conditions
- PSP, PSP - Progressive Supranuclear Palsy, Corticobasal Syndrome, Corticobasal Syndrome(CBS)
- Trial name
- NCT06647641
- Testing
- Whole genome sequencing will be performed at the NIH
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Puberty, Precocious, Adiposity
Long-term Outcome of GnRH Analogues Treatment of Children With Idiopathic Central Precocious Puberty
This study evaluates the influence of early adiposity rebound, genetic polymorphisms and GnRHa treatment on long-term outcome of girls with idiopathic central precocious puberty.
- Trial name
- NCT02790112
- Testing
- GnRHas
- Where
- Belgium
- Volunteers
- 418 people, healthy volunteers welcome
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Neoplasms, Antioxidants
Oxidoreductive Balance and Lysosomal Activity in Cancer Patients.
The research aims to determine the parameters of oxidative stress and inflammatory processes and compare these parameters with the image obtained using positron emission tomography (PET) with 2-deoxy-2-[fluorine-18]fluoro…
- Conditions
- Neoplasms, Antioxidants, Oxidative Stress, Lipid Peroxidation
- Trial name
- NCT03470857
- Testing
- Patients
- Where
- 3 sites in Poland
- Volunteers
- 83 people, healthy volunteers welcome
- Sponsor
- Nicolaus Copernicus University
Vertigo, Meniere's Disease
Genetic and Biohumoral Factors Involved in Menière's Disease and Their Correlation With Phenotypes
Aim of this work was to assess the role of polymorphisms belonging to genes involved in the regulation of ionic homeostasis in Caucasian patients with Ménière Disease (MD) and compare results with a cohort of patients affected by…
- Conditions
- Vertigo, Meniere's Disease, Vestibular Migraine
- Trial name
- Menière09 (NCT07518069)
- Testing
- a blood withdrawal will be obtained, blood withdrawal
- Where
- Italy
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
Inhalation; Gas
Sevoflurane Wash in Method Using Conventional Flows Versus Low Flows of 0.5L
The goal of this observational study is to to evaluate a technique of initiating Sevoflurane low-flow anesthesia which is simple, has a quick wash-in and minimises gas consumption without compromising the safety when compared to…
- Trial name
- NCT06209112
- Testing
- Sevoflurane
- Where
- Oman
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Royal Hospital, Oman
Short Stature, Growth Disorders
Bone Age Assessment in Children Using Ultrasound Compared to Wrist X-ray
Bone age assessment in children is based on the interpretation of hand x-ray scans according to Greulich and Pyle (GP) standard atlas and frequently used for evaluating growth and puberty in children and adolescents.
- Trial name
- NCT03123003
- Testing
- SonicBone Ultrasound, Wrist X-ray
- Where
- Israel
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Meir Medical Center
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