Clinical trials: Hereditary Diseases
Intrauterine Retardation
Levels of Endocan in Umbilical Cord Blood Samples of Pregnant Females With Intrauterine Growth Retardation
As a proteoglycan secreted from endothelial cells, expression, and secretion of endocan increases in the endothelium of several tissues secondary to inflammation. It can be regarded as an indicator of endothelial damage.
- Trial name
- NCT04630223
- Testing
- endocan in umbilical cord blood
- Where
- Turkey (Türkiye)
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Van Bölge Eğitim ve Araştırma Hastanesi
Parkinson's Disease
The Parkinson's Genetic Research Study
The Parkinson's Genetic Research Study (PaGeR), headed by Dr. Cyrus Zabetian, is searching for genes that increase the risk of developing Parkinson's disease (PD) and related disorders.
- Trial name
- PaGeR (NCT01558479)
- Where
- 5 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- University of Washington
Bicuspid Aortic Valve Disease
Bicuspid Echocardiac Study Team（BEST）
The Chinese Bicuspid Aortic Valve (BAV) Ultrasound imaging cohort study is a Chinese BAV ultrasound imaging cohort study. At present, a retrospective study cohort involving more than 30 hospitals has been established.
- Trial name
- BEST (NCT05656820)
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Suzhou Municipal Hospital
Fragile X Syndrome, Autism Spectrum Disorder
Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders
Fragile X Syndrome (FXS) is a complex neurodevelopmental disorder caused by a mutation on the X chromosome. Scientists have investigated FXS extensively in both humans and animals.
- Conditions
- Fragile X Syndrome, Autism Spectrum Disorder, Autistic Disorder, Asperger Syndrome
- Trial name
- ENTRAIN (NCT06227780)
- Testing
- Alpha Auditory Entrainment
- Where
- United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Arrhythmia, Sudden Cardiac Death
Electrophysiological Phenotyping Of Patients at Risk of Ventricular Arrhythmia and Sudden Cardiac Death
Obesity, rheumatoid arthritis (RA) and gene-specific dilated cardiomyopathy (DCM) are common medical conditions. Small-scale studies have shown that these are associated with proarrhythmic changes on 12-lead electrocardiogram…
- Conditions
- Arrhythmia, Sudden Cardiac Death, Cardiomyopathy, Dilated, Obesity
- Trial name
- EPORVA (NCT03910725)
- Testing
- Electrocardiographic imaging
- Where
- 2 sites in United Kingdom
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Periodontal Diseases, Psoriasis
Periodontal Status in Patients With Chronic Skin Diseases
Objective: This study aimed to evaluate and compare the periodontal status of chronic skin disease (CSD) patients with healthy controls. Material and method: 109 patients and 37 healthy subjects were included in this study.
- Conditions
- Periodontal Diseases, Psoriasis, Atopic Dermatitis, Autoimmune Bullous Dermatosis
- Trial name
- NCT06073613
- Testing
- oral health status
- Where
- Vietnam
- Volunteers
- 146 people, healthy volunteers welcome
- Sponsor
- University of Medicine and Pharmacy at Ho Chi Minh City
Atopic Dermatitis
Evaluation of NM26-2198 in Healthy Subjects and in Patients With Moderate-to-severe Atopic Dermatitis (AD)
This is a randomized, double-blind, placebo-controlled, single- and multiple ascending dose study of subcutaneous (SC) administration of NM26-2198 in healthy volunteers and adult patients with moderate to-severe AD to evaluate…
- Trial name
- NCT05859724
- Testing
- NM26-2198
- Where
- 15 sites in United States, Canada and 2 more
- Volunteers
- 126 people, healthy volunteers welcome
- Sponsor
- Yellow Jersey Therapeutics AG
Dyslipidemias, Familial Hypercholesterolemia
Study of ARO-ANG3 in Healthy Volunteers and in Dyslipidemic Patients
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetcs and pharmacodynamics of single- and multiple doses of ARO-ANG3 in healthy adult volunteers and in dyslipidemic patients including familial…
- Conditions
- Dyslipidemias, Familial Hypercholesterolemia, Hypertriglyceridemia
- Trial name
- NCT03747224
- Testing
- ARO-ANG3, sterile normal saline (0.9% NaCl)
- Where
- 6 sites in Australia, New Zealand
- Volunteers
- 93 people, healthy volunteers welcome
- Sponsor
- Arrowhead Pharmaceuticals
Pregnancy; Spina Bifida, Fetal, Environmental Exposure
Understanding Effects of Folic Acid on the Methylosome and Transcriptome of Women With Spina Bifida Affected Pregnancies
Folic acid is currently considered to be the standard of care for primary and secondary prevention of spina bifida, but the mechanisms underlying folic acid's benefits are unknown.
- Trial name
- NCT05500690
- Testing
- Folic Acid Tablet
- Where
- Bangladesh
- Volunteers
- 69 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Limb Girdle Muscular Dystrophies
Motor Parameters in Patients With Limb Girdle Muscular Dystrophy
The primary objective of the study is to perform 2-year follow up with motor parameters evolution using instrumental assessments in patients with limb girdle muscular dystrophie, and to identify which motor parameters are…
- Trial name
- EIDY (NCT04772027)
- Where
- France
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Atopic Dermatitis
Effects of Lactobacillus Reuteri Plus Vitamin D3 in Children With Atopic Dermatitis
The purpose of this study is to evaluate in a randomized, double-blinded, controlled trial, whether a new food supplement containing Lactobacillus reuteri DSM 17938 and vitamin D3 (Reuterin® D3) may improve the SCORAD in…
- Trial name
- NCT02945683
- Testing
- Reuterin D3
- Where
- Italy
- Volunteers
- 88 people, healthy volunteers welcome
- Sponsor
- Noos S.r.l.
Ataxia Telangiectasia
Comparative Bioavailability of Betamethasone Oral Solution Metered Spray (GTX-102) in Healthy Subjects
A Randomized, Open-label, Crossover Study to Evaluate the Comparative Bioavailability, Pharmacokinetics, and Safety of GTX-102 Administered as an Oral Spray Compared to Intramuscular Injection - betamethasone and an Oral Solution…
- Trial name
- NCT05531890
- Testing
- GTX-102 medium dose fast Period 1 and Period 2, GTX-102 medium dose slow Period 1 and Period 2, GTX-102 high dose fast Period 1 and Period 2
- Where
- Canada
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Grace Therapeutics Inc.
Healthy, Sedentary Lifestyle
Investigation of Fat Oxidation During Moderate Versus Vigorous Intensity Exercise
Exercise is widely suggested as an important lifestyle change for weight loss, however, the optimal level of intensity moderate versus vigorous remains unclear.
- Trial name
- FATOX (NCT03864679)
- Testing
- Exercise
- Where
- Latvia
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Latvian Institute of Organic Synthesis
Sickle Cell Disease
Development and Evaluation of an Information Management System and Communication System for Population-wide Point-of-care Infant Sickle Cell Disease Screening
Although over 75% of children with sickle cell disease (SCD) are born in sub-Sahara where the disease highly contributes to under-5 mortality and causes life-long debilitation, evidence-based strategies to control SCD are not…
- Trial name
- SIMCS SCD (NCT06563440)
- Testing
- Digital app and information system
- Where
- 2 sites in United States, Uganda
- Volunteers
- 24,000 people, healthy volunteers welcome
- Sponsor
- Makerere University
Neurofibromatosis Type 1
A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1
The specific aim of this study is to determine whether Lovastatin ™ significantly improves visual spatial learning and/or sustained attention in children with NF1.
- Trial name
- STARS (NCT00853580)
- Testing
- Lovastatin ™
- Where
- 12 sites in United States, Australia
- Volunteers
- 146 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Sickle Cell Anemia Crisis
Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Patients With Acute Sickle Cell Crises?
The purpose of this study is to determine whether IV acetaminophen can decrease the need for subsequent opioid administration in the acute management of sickle cell crisis pain in the pediatric emergency room.
- Trial name
- NCT03541980
- Testing
- Acetaminophen, Normal saline
- Where
- United States
- Volunteers
- 71 people, healthy volunteers welcome
- Sponsor
- Newark Beth Israel Medical Center
Sickle Red Blood Cell, Fetal Hemoglobin
Effect of Broccoli Sprouts Homogenate on SS RBC
The overall purpose of this study is to obtain a better understanding of the biological response of red blood cells to sulforaphane contained in fresh broccoli sprouts that have been put through a blending process.
- Conditions
- Sickle Red Blood Cell, Fetal Hemoglobin, Oxidative Stress
- Trial name
- BSH (NCT01715480)
- Testing
- Broccosprouts® (Brassica Protection Products LLC) homogenate
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Duke University
Sickle Cell Disease
Evaluation of the Hemostatic Potential in Sickle Cell Disease Patients
Sickle cell disease is a genetic disorder caused by a point mutation on the amino acid sequence of the β chain of hemoglobin. The most expressive and most frequent complication of the disease is vaso-occlusive crisis, dominated…
- Trial name
- NCT02565082
- Testing
- Blood sampling - healthy volunteers, Blood sampling - sickle cell patients arm - stable condition, Blood sampling - sickle cell patients arm- exsanguinotransfusion needed
- Where
- Belgium
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Brugmann University Hospital
Anemia, Sickle Cell
A Study of the Absorption, Metabolism, and Excretion of GBT440 in Healthy Male Subjects
This study will provide information regarding the metabolic pathway of GBT440, the need for evaluation of potential drug-drug interactions, and the need for studies in special populations.
- Trial name
- NCT02497924
- Testing
- GBT440
- Where
- United States
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Global Blood Therapeutics
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
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