Clinical trials: Genetic Disorder
Marfan Syndrome, Ectopia Lentis
Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity
Marfan syndrome is characterized by musculoskeletal manifestations, cardiovascular disease and ocular abnormalities, particularly ectopia lentis.
- Trial name
- NCT04319107
- Testing
- ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.
- Where
- France
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Dermatitis, Atopic, Dermatitis Eczema
A Study To Evaluate ASN002 In Subjects With Atopic Dermatitis
This is a dose escalation study to test the safety, tolerability and preliminary efficacy of ASN002 in people with moderate to severe atopic dermatitis (AD).
- Conditions
- Dermatitis, Atopic, Dermatitis Eczema, Dermatitis, Eczematous
- Trial name
- NCT03139981
- Testing
- ASN002
- Where
- 10 sites in United States, Canada
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Asana BioSciences
Healthy Volunteer, Down Syndrome
A Molecular and Functional Brain Imaging Study in Individuals With Down Syndrome and Healthy Controls Following Single Dose RG1662
This single-center, single-blind, placebo-controlled, parallel-group study with crossover component will evaluate the GABAAalpha5 receptor expression, occupancy and functional connectivity in the brains of individuals with Down…
- Trial name
- NCT01667367
- Testing
- RG1662
- Where
- United Kingdom
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Hoffmann-La Roche
Healthy Humans
Processing of Salient Emotional Stimuli as a Function of Tetrahydrocannabinol (THC) and Cannabidiol (CBD)
Attentional blink refers to a phenomenon where the detection of the second of two target stimuli that are presented in Short succession within a stream of stimuli is impaired.
- Trial name
- AB_THC_CBD (NCT02291536)
- Testing
- tetrahydrocannabinol, cannabidiol
- Where
- Germany
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Central Institute of Mental Health, Mannheim
Prader-Willi Syndrome
Gut Derived Hormones, Body Composition and Metabolism in Prader-Willi Syndrome
The purpose of this study is to investigate the effects of a GLP-1 agonist on satiety hormones in patients with Prader-Willi Syndrome (genetic defect causing obesity).
- Trial name
- NCT00551343
- Testing
- Exenatide
- Where
- Australia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Garvan Institute of Medical Research
Trisomy 13, Trisomy 18
High Risk Multiple Gestation Study
The objectives of the clinical study are to demonstrate the accuracy of our proprietary algorithm method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample.
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
- Trial name
- NCT02278874
- Where
- 4 sites in United States
- Volunteers
- 99 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Tourette's Syndrome, Attention Deficit Hyperactivity Disorder
Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD
In the present study, we examine the question "Will day-time aggression in children improve when their night-time sleep is treated with pharmacological intervention (i.e.
- Trial name
- NCT00152750
- Testing
- APO-clonidine
- Where
- Canada
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- University Health Network, Toronto
Primary Ciliary Dyskinesia, Cystic Fibrosis
Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With CF, PCD and Healthy Children
The aim of this study is to compare pulmonary function, respiratory muscle strength, exercise capacity and peripheral muscle strength of patients with CF, PCD and healthy childrens.
- Trial name
- NCT04161313
- Testing
- Measurement of functional capacity, pulmonary function test, Functional capacity
- Where
- Turkey (Türkiye)
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Bezmialem Vakif University
Coronary Artery Disease
Personal Genomics for Preventive Cardiology
The purpose of this study is to see if providing information to a person on their inherited (genetic) risk of cardiovascular disease (CVD) helps to motivate that person to change their diet, lifestyle or medication regimen to…
- Trial name
- NCT01406808
- Testing
- genetic risk score for coronary risk factors
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Stanford University
Retinal Diseases, Fuchs Endothelial Dystrophy
DISCOVER Study: Microscope-integrated Intraoperative OCT Study
Optical coherence tomography (OCT )provides high resolution information regarding the anatomic structure of the tissues of the eye in a cross-sectional and 3 dimensional view.
- Conditions
- Retinal Diseases, Fuchs Endothelial Dystrophy, Macular Hole, Epiretinal Membrane
- Trial name
- DISCOVER (NCT02423213)
- Where
- United States
- Volunteers
- 2,911 people, healthy volunteers welcome
- Sponsor
- The Cleveland Clinic
Chronic Myeloproliferative Disorders, Fanconi Anemia
Research Study in Healthy Volunteers of Patients With Fanconi Anemia, Myeloproliferative Disorders, or Myeloma
RATIONALE: Analyzing tissue and blood samples from healthy volunteers or patients with Fanconi anemia, myelodysplasia, myeloproliferative disorders, or myeloma in the laboratory may help doctors learn more about the causes of…
- Conditions
- Chronic Myeloproliferative Disorders, Fanconi Anemia, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic/Myeloproliferative Neoplasms
- Trial name
- NCT00900055
- Testing
- microarray analysis, polyacrylamide gel electrophoresis, polymerase chain reaction
- Where
- United States
- Volunteers
- 213 people, healthy volunteers welcome
- Sponsor
- OHSU Knight Cancer Institute
Bone Marrow Transplant, Sickle Cell Disease
Screening for Subjects to Participate in Studies of Blood Disorders
This study will determine eligibility for participation in research studies on blood disorders conducted by the National Heart, Lung and Blood Institute and the National Institute of Diabetes, Digestive, and Kidney Diseases.
- Conditions
- Bone Marrow Transplant, Sickle Cell Disease, G-CSF
- Trial name
- NCT00695123
- Where
- United States
- Volunteers
- 816 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Huntington Disease
Accelerated Diffusion MRI for Diagnosis of Hungtington Disease
The hypotheses of the project are 1. Diffusion MRI using compressed sensing could have reduced motion sensitivity and improved susceptibility related artifact because of accelerated acquisition. 2.
- Trial name
- NCT01884181
- Where
- Taiwan
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Wang . Jiun-Jie
Hyperuricemia, Gout
Thorough QT (TQT) Study to Evaluate the Effect of LC350189 on Cardiac Repolarization in Healthy Male and Female Subjects
This is a Phase 1, single-center, randomized, partially double-blind, placebo- and positive controlled, 4-way crossover study to evaluate the effect of a therapeutic and a supratherapeutic dose of LC350189 on the QTcF in healthy…
- Conditions
- Hyperuricemia, Gout, Qt Interval, Variation in
- Trial name
- NCT04966325
- Testing
- LC350189 200mg, Moxifloxacin 400mg, LC350189 600mg
- Where
- United States
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- LG Chem
Postural Tachycardia Syndrome, Ehlers-Danlos Syndrome
Standing Cognition and Co-morbidities of POTS Evaluation
The purpose of this study is to evaluate cognition in patients with postural tachycardia syndrome (POTS) while lying down and standing and to assess the prevalence of hypermobile Ehlers-Danlos Syndrome in POTS.
- Trial name
- SCOPE (NCT03602482)
- Testing
- Standing, Supine
- Where
- United States
- Volunteers
- 139 people, healthy volunteers welcome
- Sponsor
- Milton S. Hershey Medical Center
Severe Hemophilia A Without Inhibitor, Joint Bleed
Comparison of Outcomes Between Low Dose Emicizumab and Factor VIII in Clinically Severe Hemophilia A
To outcome between low dose Emicizumab and low dose prophylaxis with FVIII concentration To study pharmacokinetic, side effect of low dose Emicizumab
- Trial name
- NCT06155955
- Testing
- "Emicizumab", "HEMLIBRA®"
- Where
- Thailand
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Chulalongkorn University
Shoulder Pain, Neuromuscular Diseases
Understanding Control and Mechanisms of Shoulder Instability in FSHD
The aim of this study is to identify factors for shoulder instability in people with Facioscapulohumeral dystrophy (FSHD). FSHD is a non-life limiting condition with symptoms presenting in the second decade of life (Evangelista…
- Conditions
- Shoulder Pain, Neuromuscular Diseases, Shoulder Injuries, Facio-Scapulo-Humeral Dystrophy
- Trial name
- NCT05239520
- Testing
- 3D movement analysis with surface electromyography and ultrasound
- Where
- United Kingdom
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- University of Liverpool
Atopic Dermatitis
Safety, Tolerance and Pharmacokinetics Clinical Study of VC005 in Healthy Subjects and Patients with Mild to Moderate Atopic Dermatitis
This study is a single center, randomized, double-blind, Vehicle controlled,, single and multiple dose clinical study.
- Trial name
- NCT06009094
- Testing
- VC005
- Where
- China
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Jiangsu vcare pharmaceutical technology co., LTD
Mevalonate Kinase Deficiency
Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency
Mevalonate kinase deficiency (HyperIgD syndrome, HIDS) is an inborn error of immunity caused by a block in the mevalonate pathway.
- Trial name
- NCT06497829
- Testing
- geranylgeraniol
- Where
- Czechia
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- University Hospital, Motol
Empathy, Autism
Empathy, Psychopathy and Autism: Behavioural Associations and the Role of an Oxytocin Receptor Polymorphism in a Non-clinical Adult Population
This is an investigation into the associations between psychopathic traits, autistic traits and empathy (cognitive and affective) in the general population as measured using three self report questionnaires and one behavioural…
- Conditions
- Empathy, Autism, Psychopathy
- Trial name
- NCT04746027
- Where
- United Kingdom
- Volunteers
- 126 people, healthy volunteers welcome
- Sponsor
- St Mary's University College
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