Clinical trials: Genetic Disorders
Atopic Dermatitis, Psoriasis
Determinants of Chronic Inflammatory Skin Disease Trajectories
Although it is well known that the clinical expression and course of chronic inflammatory skin diseases are highly variable, there are insufficient epidemiological data on this, and the factors that determine the manifestation…
- Conditions
- Atopic Dermatitis, Psoriasis, Lichen Planus, Alopecia Areata
- Trial name
- NCT05928169
- Testing
- Topical and systemic drugs
- Where
- Germany
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- University Hospital Schleswig-Holstein
Atopic Dermatitis
Pimecrolimus Cream 1% (Elidel®) and Medicated Device Cream (EletoneTM) in the Treatment and Maintenance of Atopic Dermatitis.
The purpose of this study is to assess a bilateral comparison between pimecrolimus cream 1% (Elidel®) and a medical device cream (EletoneTM) in the treatment and management of atopic dermatitis.
- Trial name
- NCT01177566
- Testing
- pimecrolimus, topical medical device
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Emer, Jason, M.D.
Lung Transplantation
Can Immune Parameters Predict Acute and Chronic Rejection in Lung Recipients?
This study will evaluate the ability of lung transplant recipients to react to the transplanted organs. Previous research indicates that some immune tests can identify whether people are at risk for chronic rejection of…
- Trial name
- NCT00340951
- Where
- 2 sites in United States
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Turner Syndrome
Effect of Turner Syndrome on Number Sense
This study evaluates approximate number sense (ANS) in children, adolescents, and adult women with Turner syndrome compared to age-matched healthy peers.
- Trial name
- NCT03459651
- Testing
- ANS training
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Stanford University
Cystic Fibrosis
Treatment of Anxiety/Depression and Pain Through Relaxation Yoga for Patient With Cystic Fibrosis (CF)
The investigators research question is whether or not yoga effectively alleviates symptoms of pain, sleep disturbance, anxiety and depression in children with cystic fibrosis.
- Trial name
- NCT01180842
- Testing
- Yoga treatment program
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Children's Hospitals and Clinics of Minnesota
Hemophilia
Haemophilia and Bone Loss - PHILEOS Study
Haemophilia is a rare bleeding disorder, characterized by factor VIII (HA) or factor IX (HB) deficiency. The absence or the reduction of fVIII or fIX result in impaired thrombin generation and clot formation, causing excessive…
- Trial name
- PHILEOS (NCT04384341)
- Testing
- Bone densitometry (BMD), Blood sampling for patients only
- Where
- 23 sites in Belgium, Croatia and 3 more
- Volunteers
- 448 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Primary Immunodeficiency Diseases
Exercise Capacity, Physical Activity Level and Quality of Life in Children With Primary Immunodeficiency
This study aims to compare the maximal exercise capacity, functional exercise capacity, respiratory functions, physical activity level, quality of life, respiratory muscle strength and endurance, peripheral muscle strength…
- Trial name
- NCT05999422
- Where
- Turkey (Türkiye)
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- Gazi University
Colitis, Ulcerative
An Analysis of the Relationship Between the Genetic Polymorphisms of Plasminogen Activator Inhibitor-1 and Ulcerative Colitis in Chinese Patients
From January 2019 to February 2025, diagnosed ulcerative colitis(UC) patients and gender- and age-matched normal controls were enrolled from the Department of Gastroenterology, the Second Affiliated Hospital of Wenzhou Medical…
- Trial name
- NCT06961435
- Testing
- Vedolizumab
- Where
- China
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- Second Affiliated Hospital of Wenzhou Medical University
Hereditary Diseases
Cell-based Non-invasive Prenatal Testing as an Alternative to Invasive Chorionic Villus Sampling
The study aims to evaluate cell-based non-invasive prenatal testing (cbNIPT) as an alternative to invasive chorionic villus sampling (CVS) in patients who achieve pregnancy following preimplantation genetic testing for hereditary…
- Trial name
- NCT05453474
- Testing
- Whole genome amplification
- Where
- Denmark
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Aalborg University Hospital
Spinocerebellar Ataxia Type 3, Machado-Joseph Disease
Natural History of Oculomotor Neurophysiology in Ataxic and Pre-ataxic Carriers of SCA3/MJD
The study will consist of a prospective observation of subjects in a natural history design. Disease progression will be monitored through clinical scales and video-oculography.
- Trial name
- BIGPRO (NCT04229823)
- Testing
- Video-oculography, Clinical Scales, Genotyping
- Where
- Brazil
- Volunteers
- 95 people, healthy volunteers welcome
- Sponsor
- Hospital de Clinicas de Porto Alegre
Muscular Dystrophy, Duchenne
Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD
This study will collect MRI from healthy volunteer boys and boys with Duchenne Muscular Dystrophy (DMD) to help researchers identify and validate cardiac MRI biomarkers to better understand the health of the heart and changes in…
- Trial name
- NCT02834650
- Testing
- Cardiac MRI with contrast, Cardiac MRI without contrast, Blood Test
- Where
- 3 sites in United States
- Volunteers
- 89 people, healthy volunteers welcome
- Sponsor
- Stanford University
Overweight
Effects of Sucrose Added Blind to the Diet Over Eight Weeks on Body Mass and Weight in Men
Background: Sugar intake, especially in liquid, correlates with obesity. Yet, whether it is a special cause of obesity is less clear. Few experimental studies exist.
- Trial name
- NCT04804397
- Testing
- Sucrose
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University of Hull
Anesthesia, Surgical Procedure, Operative
The Bern Perioperative Biobank
The goal of the research is to define clinically relevant molecular markers for increased risk of peri-/ postoperative organo-dysfunctions, inflammation, adverse events and disease progression.
- Trial name
- BPBB (NCT04767685)
- Where
- Switzerland
- Volunteers
- 547 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Hypercholesterolemia, Familial, Calcification; Heart
Diet Quality and Coronary Artery Calcification in Adults With Heterozygous Familial Hypercholesterolemia
The overarching objective is to evaluate the relationship between diet and coronary artery calcification in patients with heterozygous familial hypercholesterolemia (HeFH). We will recruit adults with HeFH.
- Conditions
- Hypercholesterolemia, Familial, Calcification; Heart, Diet Habit
- Trial name
- FH-CAC (NCT04837638)
- Testing
- Diet
- Where
- Canada
- Volunteers
- 258 people, healthy volunteers welcome
- Sponsor
- Laval University
Developmental Disability, Chronic Disease
QoL and Stress in Parents of Children With Developmental Disabilities and Chronic Disease
The aim of this cross-sectional study is to investigate the level of stress and quality of life in parents of children with developmental disabilities (Down syndrome, autism spectrum disorder, pervasive developmental disorder…
- Conditions
- Developmental Disability, Chronic Disease, Down Syndrome, Autism Spectrum Disorder
- Trial name
- NCT03602378
- Testing
- salivary cortisol, Holter Medilog AR12 Plus, Polar V800
- Where
- 2 sites in Croatia
- Volunteers
- 592 people, healthy volunteers welcome
- Sponsor
- University of Split, School of Medicine
Behçet's Disease
Behçet's Disease and Eosinophil Cationic Protein
Eosinophil cationic protein (ECP) is a matrix protein of eosinophils and has been reported to reflect eosinophil activity. Few studies have examined the role of eosinophils in the pathogenesis of Behçet's disease.
- Trial name
- NCT01584778
- Testing
- eosinophil cationic protein
- Where
- Turkey (Türkiye)
- Volunteers
- 47 people, healthy volunteers welcome
- Sponsor
- Cukurova University
Lactic Acidosis
Dichloroacetate Kinetics, Metabolism and Toxicology
Dichloroacetate (DCA) is a product of water chlorination and a metabolite of certain industrial solvents, thus making it a chemical of environmental concern.
- Trial name
- NCT00015015
- Testing
- Dichloroacetate
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Citrullinemia
Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)
The urea cycle consists of a series of chemical reactions through which the body converts toxic waste- nitrogen into a substance called urea that can be disposed of easily.
- Trial name
- NOASSD (NCT01610089)
- Testing
- stable isotope infusion
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Beta-Thalassemia
Iron Status in BTM With Blood Transfusion
To assess the possible role of iron overload as a cause of liver dysfunction in thalassemic childrens receiving multiple blood transfusion and its correlation with serum aminotransferases.
- Trial name
- NCT04947540
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Assiut University
Cystic Fibrosis
Study of Metabolic Effects of Pregnancy in Women With Cystic Fibrosis
OBJECTIVES: I. Compare the clinical status of pregnant vs non-pregnant women with cystic fibrosis. II. Determine glucose tolerance during each trimester of pregnancy in these women. III.
- Trial name
- NCT00014768
- Testing
- glucose, insulin, leucine
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
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