Clinical trials: Genetics Disease
Phenylketonuria
Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria
Effect of L-carnitine supplementation on phenylalanine and brain-derived neurotrophic factor levels in infants and children with phenylketonuria L-carnitine is mainly obtained from foods such as red meat and milk that are limited…
- Trial name
- NCT06901323
- Testing
- L-carnitine
- Where
- Egypt
- Volunteers
- 176 people, healthy volunteers welcome
- Sponsor
- Mansoura University
Cystinosis, Nephropathic Cystinosis
Study in Healthy Adults to Determine the Effect That Food Has on the Absorption and Delivery of the Drug Cystagon™
In order to meet FDA standards of safety and efficacy reporting for most new drugs, food-effect bioavailability (the impact that the presence of food in the digestive tract has on the rate and extent at which a drug is absorbed…
- Trial name
- NCT01432561
- Testing
- Cysteamine bitartrate
- Where
- United States
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- University of California, San Diego
Gout, Coronary Artery Disease
Uric Acid Study in Healthy Male Volunteers
This study is being conducted to examine the effect of AZD6140 on the levels of certain chemicals in subjects' blood and urine.
- Trial name
- NCT00738842
- Testing
- AZD6140
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- AstraZeneca
Mucopolysaccharidosis, Fabry Disease
Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
The aim of the present study is to compare intraocular pressure (IOP) values assessed with Ocular Response Analyzer to the classical gold standard of IOP measurement, to Goldmann applanation tonometry by mucopolysacchyridosis…
- Trial name
- MPSORA (NCT01695161)
- Where
- Germany
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Johannes Gutenberg University Mainz
Laxity; Skin
Combination Therapy for Rejuvenation of the Lower Face and Neck
An investigator initiated trial in which 20 subjects with moderate to severe changes of the jawline, neck and décolletage will undergo combination treatment to achieve comprehensive rejuvenation of the jawline and neck.
- Trial name
- NCT04102670
- Testing
- Ultherapy, Xeomin, Belotero Balance
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Nashville Centre for Laser and Facial Surgery
Basal Cell Carcinoma, Squamous Cell Carcinoma
Photochemical Tissue Bonding
The broad aim of this study is to evaluate the efficacy of photochemical tissue bonding (PTB) for the closure of skin excisions.
- Conditions
- Basal Cell Carcinoma, Squamous Cell Carcinoma, Atypical Nevus
- Trial name
- PTB (NCT00586040)
- Testing
- tissue bonding, sutures
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Human Immunodeficiency Virus Infection, Sexually Transmitted Diseases
Men Together Making a Difference: Reducing HIV/STD Risk Behavior Among South African Men
Sub-Saharan Africa has about 10% of the world's population, but was home to more than 60% of all people living with HIV in 2003.
- Trial name
- NCT01490359
- Testing
- Men Making a Difference HIV/STD Risk Reduction Intervention, Health Promotion Control
- Volunteers
- 1,181 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Beta-Lactams Allergy, Hypersensitivity
Genomic Study of Genetic Polymorphisms Involved in Immediate Allergic Reactions to Beta-lactam Antibiotics
Beta-lactam antibiotics include penicillin and cephalosporins and are among the most prescribed antibiotics. This category of drugs is the most involved in immediate allergic manifestations with 2% reactions in treated subjects…
- Trial name
- PANGENOMIC-BL (NCT02895646)
- Testing
- Collection of blood sample
- Volunteers
- 2,356 people, healthy volunteers welcome
- Sponsor
- Central Hospital, Nancy, France
Healthy Participants
Bioequivalence Study of Rivaroxaban 2.5 mg Tablets Under Fasting and Fed Conditions
This completed study compared how the body absorbed a single 2.5 mg dose of a test rivaroxaban tablet and the reference product (Xarelto) in healthy adults.
- Trial name
- NCT07807488
- Testing
- Rivaroxaban 2.5 mg Test Tablet, Rivaroxaban 2.5 mg Reference Tablet
- Where
- China
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- The Affiliated Hospital of Qingdao University
Anemia
A Safety and Tolerability Study of AG-519 in Healthy Subjects
The purpose of the study is to investigate a drug called AG-519, which is being developed for the treatment of a disease called pyruvate kinase deficiency (also known as PK deficiency) and other forms of anemia.
- Trial name
- NCT02630927
- Testing
- AG-519
- Where
- United Kingdom
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- Agios Pharmaceuticals, Inc.
Parkinson Disease
Genetic Study in Young Onset Parkinson's Disease
Parkinson's disease (PD) is the second most frequent neurodegenerative disorder after Alzheimer's disease. It causes motor dysfunctions, such as bradykinesia, resting tremor, rigidity and postural instability.
- Trial name
- NCT01529970
- Where
- Taiwan
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- China Medical University Hospital
Neurogenetic Diseases
Advancing Neurogenetic Diagnoses Through Long-Read Sequencing
Nucleotide repeats emerge as one of the most prolific classes of genetic variations. They have the propensity to in-crease in length across generations, and have been implicated in at least 65 known neurological/…
- Trial name
- NRGEN-NGS3 (NCT07665554)
- Testing
- Skin biopsy, blood sampling
- Where
- 2 sites in France
- Volunteers
- 304 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
Anemia, Sickle Cell, Sickle Cell Disease
Preventing Sickle Cell Kidney Disease
Untreated hypertension and renal injury are risk factors for increased morbidity and mortality in sickle cell disease, yet early markers of progressive disease have not been identified and therapies to prevent the development of…
- Conditions
- Anemia, Sickle Cell, Sickle Cell Disease, Kidney Disease, Hypertension
- Trial name
- NCT02373241
- Testing
- Losartan
- Where
- United States
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Friedreich Ataxia, Cardiomyopathies
A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults
The goal of this clinical trial is to learn how ATI-105 administered to healthy participants at works in the body at different doses and with or without food.
- Conditions
- Friedreich Ataxia, Cardiomyopathies, Central Nervous System Diseases, Neuromuscular Diseases
- Trial name
- NCT07869654
- Testing
- ATI-105
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Adjuvia Therapeutics, Inc.
Food Preferences, Genetic Predisposition
Food Choice, Psychological Bias, and Genetic Predisposition
This project aims to assess if food choice is impacted by loss aversion (LA), and if this differs based on genetic predisposition to LA, in a UK healthy cohort.
- Conditions
- Food Preferences, Genetic Predisposition, Psychological
- Trial name
- NCT04955002
- Testing
- No intervention
- Where
- United Kingdom
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Oxford Brookes University
Amyotrophic Lateral Sclerosis, Brainstem Stroke
Optimizing BCI-FIT: Brain Computer Interface - Functional Implementation Toolkit
This project adds to non-invasive BCIs for communication for adults with severe speech and physical impairments due to neurodegenerative diseases.
- Conditions
- Amyotrophic Lateral Sclerosis, Brainstem Stroke, Muscular Dystrophies, Parkinson's Disease and Parkinsonism
- Trial name
- BCI-FIT (NCT04468919)
- Testing
- BCI-FIT multi-modal access, BCI-FIT adaptive signal modeling, BCI-FIT active querying
- Where
- United States
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Hemophilia
Movement Visualization in Patients With Hemophilic Arthropathy
Background. The recurrence of hemarthrosis in patients with hemophilia favors the development of an intra-articular, degenerative and progressive lesion (hemophilic arthropathy).
- Trial name
- NCT04237766
- Testing
- Experimental group
- Volunteers
- 140 people, healthy volunteers welcome
- Sponsor
- Real Fundación Victoria Eugenia
Obesity, Behavior, Health
Evaluation of Brain Activity Changes After a Behavior Change Weight Loss Intervention
The aim of this study is to compare brain changes in individuals with overweight or obesity enrolled in either the Noom Healthy Weight program or a matched control.
- Conditions
- Obesity, Behavior, Health, Weight Loss
- Trial name
- NCT04522245
- Testing
- Noom Healthy Weight; mobile behavior change program for weight loss., Matched Control
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Noom Inc.
Invasive Streptococcal Infection, Invasive Group A Streptococcal Disease
Genetic Susceptibility to Severe Streptococcal Infections
Invasive bacterial infection is a dangerous but relatively uncommon disease where bacteria spread deep into the body causing diseases like blood poisoning ('bacteraemia'), pneumonia, meningitis and others.
- Conditions
- Invasive Streptococcal Infection, Invasive Group A Streptococcal Disease, Invasive Group B Streptococcal Disease, Necrotising Fasciitis
- Trial name
- NCT01911572
- Where
- United Kingdom
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Oxford
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