Clinical trials: Genetic Condition
Amblyopia, Myopia
Performance of a Photoscreener for Vision Screening in a Haitian Pediatric Population
Screening of haitian children between the ages of 3 and 6 years old for amblyogenic risk factors with the use of the Spot photoscreener. The photoscreener results will be compared to the complete ophthalmologic evaluation.
- Conditions
- Amblyopia, Myopia, Hyperopia, Astigmatism
- Trial name
- POPH (NCT02655432)
- Testing
- Spot photoscreener, Ophthalmologic evaluation, Cyclopleged refraction
- Where
- 3 sites in Haiti
- Volunteers
- healthy volunteers welcome
- Sponsor
- Université de Montréal
Polycystic Kidney, Autosomal Dominant
The Effect of High and Low Sodium Intake on Urinary Aquaporin-2 in Autosomal Dominant Polycystic Kidney Disease
The aim of the study is to test the following hypotheses: 1. that the function and/or regulation of AQP2 and /or ENaC in the principal cells is abnormal in autosomal dominant polycystic kidney disease. 2.
- Trial name
- NCT00410007
- Testing
- High Sodium Diet, Low Sodium Diet, Hypertonic saline infusion
- Where
- Denmark
- Volunteers
- 29 people, healthy volunteers welcome
- Sponsor
- Carolina Cannillo
Retinitis Pigmentosa, Glaucoma
Evaluation of Objective Perimetry Using Pupillometer
Objective perimetry can better monitor visual field defects in RP and Glaucoma patients than conventional subjective perimetry.The PLR ( Pupil Light Reflex ) of the short and long wave ratio should be significantly higher in…
- Conditions
- Retinitis Pigmentosa, Glaucoma, Visual Field
- Trial name
- NCT01021982
- Where
- Israel
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Sheba Medical Center
Morquio's Disease
Morquio's Syndrome: a Case Study
OBJECTIVES: Relating about the benefits proportionated by the physiotherapeutic treatment for the patients that have the Morquio's syndrome.
- Trial name
- NCT00609440
- Testing
- physiotherapeutic treatment
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Clínica de Hidroterapia e Recuperacao Funcional
Pregnancy
Evaluation of a Decision Assisting Tool for Prenatal Testing
This is a randomized study of an interactive, computerized descision-assisting tool for prenatal testing decision making (PT Tool) versus standard educational booklets distributed to all pregnant women by the State of California…
- Trial name
- NCT00686062
- Testing
- Control - computerized age-appropriate prenatal testing educational brochure, PT Tool - interactive, computerized, prenatal testing decision tool
- Where
- United States
- Volunteers
- 494 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Prader Willi Syndrome, Obesity
Correlation of Hyperghrelinemia With Carotid Artery Intima-Media Thickness in Children With Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is a genetic disorder characterized by childhood-onset obesity and endocrine dysfunction that leads to cardiovascular disability and early death within the first 3 decades of life.To assess the…
- Trial name
- NCT00474643
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Sickle Cell Disease
Drug Interaction Study of GBT440 With Caffeine, S-warfarin, Omeprazole, and Midazolam in Healthy Subjects
The purpose of this study to evaluate the effect of concomitant administration of GBT440 on caffeine (a CYP1A2 probe substrate), S warfarin (a CYP2C9 probe substrate), omeprazole (a CYP2C19 probe substrate), and midazolam (a…
- Trial name
- NCT02567682
- Testing
- GBT440
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Global Blood Therapeutics
Eye Diseases
Creation of the Biobank Related to Eye Disease
The purpose of this study is to develop a BioBank (a specialized lab) and collect blood, fluids and/or other tissue samples to study eye diseases.
- Trial name
- BioBank (NCT01240343)
- Where
- United States
- Volunteers
- 669 people, healthy volunteers welcome
- Sponsor
- Kimberly Drenser
Muscular Dystrophy, Duchenne Muscular Dystrophy
Study Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular Dystrophy
This Study is single arm, single center trial to check the safety and efficacy of BMMNC (100 million per dose) for the patient with Duchenne Muscular Dystrophy,
- Trial name
- BMMNC (NCT01834040)
- Testing
- Intralesional/ Intravenous of Autologous Stem cells.
- Where
- India
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Chaitanya Hospital, Pune
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
Gastric Cancer, Genetic Predisposition
Research for Associated Genes for Gastric Cancer in Family Member With Affected First-Degree Relatives
Familial gastric cancer accounts for 10% of all cases, but predisposing genetic variations is unknown except for CDH1 mutation. Because Germline mutation is believed to be a key aspect of cancer predisposition, we plan to recruit…
- Trial name
- NCT03486574
- Testing
- Positive result from pathological test
- Where
- South Korea
- Volunteers
- 105 people, healthy volunteers welcome
- Sponsor
- Seoul National University Bundang Hospital
Cystic Fibrosis (CF)
Safety, Tolerability and Pharmacokinetics Study of AIR DNAse Administered by Inhalation to Healthy Adult Volunteers
This study will be performed to assess the safety, tolerability and PK of escalating inhaled AIR-DNase doses administered as a single dose followed by multiple doses for 5 consecutive days in healthy subjects.
- Trial name
- NCT02605590
- Testing
- AIR DNase
- Where
- Israel
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Protalix
Healthy
Study of PF 04965842 Effect on MATE1/2K Activity in Healthy Participants
This is a Phase 1, randomized, 2 way crossover, open label study of the effect of PF-04965842 on metformin (a probe for MATE1/2K activity) PK in healthy adult participants.
- Trial name
- NCT03796182
- Testing
- Metformin, PF-04965842
- Where
- Belgium
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Pfizer
Cystic Fibrosis
Glycemic Monitoring in Cystic Fibrosis
Current guidelines on the diagnoses and management of cystic fibrosis (CF) related diabetes recommend treatment for diabetes based on diagnostic criteria derived from adults with type 2 diabetes.
- Trial name
- GEM (NCT02211235)
- Where
- United States
- Volunteers
- 146 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Pharmacologic Action
Genetic Variability in CYP2D6 in U.S Active Duty Population
The investigator proposes to 2D6 (Cytochrome P-450 Isoenzyme 2D6) genotype and phenotype a group of active duty service members and assess the effects on primaquine metabolism.
- Trial name
- NCT02960568
- Testing
- Primaquine
- Where
- United States
- Volunteers
- 550 people, healthy volunteers welcome
- Sponsor
- Walter Reed Army Institute of Research (WRAIR)
Thalassemia in Children
Benson's Relaxation Technique, Music Therapy for Children With Thalassemia
The aim of the present study is to determine the effect of Benson's relaxation technique versus music therapy on physiological parameters and stress of children with thalassemia during blood transfusion.
- Trial name
- NCT05730374
- Testing
- Benson's Relaxation technique, Music therapy
- Where
- Egypt
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Alexandria University
Genetic Syndrome
Genetic of SportS Induced Endofibrotic Remodeling
search for a genetic cause of vascular endofibrose
- Trial name
- GOSSER (NCT02704260)
- Testing
- GENETIC ANALYSIS
- Where
- France
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- University Hospital, Angers
Atopic Dermatitis
A Study of TQH2722 Injection to Evaluate the Safety, Tolerability, Pharmacokinetics, Efficacy and Immunogenicity in Healthy Adult Subjects
A randomized, double-blind, placebo-controlled trial design was used to assess the safety, tolerability, pharmacokinetics and pharmacodynamics characteristics, and immunogenicity of TQH2722 injection in healthy subjects.
- Trial name
- NCT05409326
- Testing
- TQH2722 injection
- Where
- China
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Chia Tai Tianqing Pharmaceutical Group Nanjing Shunxin Pharmaceutical Co., Ltd.
Facial Aging, Skin Laxity
Quantified Evaluation of Noninvasive System Delivering Microwave Energy for Unwanted Fat Reduction and Skin Tightening in Asians.
The goal of this observational study is to evaluate the effectiveness and safety of microwave-assisted heating technology in facial fat reduction and skin tightening in Asians. The main questions it aims to answer are: 1.
- Conditions
- Facial Aging, Skin Laxity, Cheek Wrinkles
- Trial name
- NCT06925074
- Where
- Taiwan
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Chang Chang Cheng
Graves Ophthalmopathy, Graves Disease
Screening, Classification, and Outcome Prediction Ensemble Using Orbital MRI for Thyroid Eye Disease: The TED SCOPE National Multicenter Registry Study
The goal of this observational study is to prospectively validate the efficacy of an AI multimodal model constructed based on multi - sequence orbital MRI in the diagnosis, activity and severity assessment, and prognosis…
- Conditions
- Graves Ophthalmopathy, Graves Disease, Thyroid Associated Ophthalmopathies
- Trial name
- TED-SCOPE-MR (NCT07716397)
- Testing
- MRI scan，ocular ultrasound
- Where
- China
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- Shanghai Changzheng Hospital