Clinical trials: Genetic Disorders
Anesthesia, Analgesia
Genetic Variants and Non-genetic Variables and Postoperative Nausea and Vomiting
Prospective observational study to analyse the association of non-genetic variables as well as genetic variants of candidate genes with the incidence of postoperative nausea and vomiting (PONV).
- Conditions
- Anesthesia, Analgesia, Surgical Procedure, Operative
- Trial name
- NCT03490175
- Where
- Switzerland
- Volunteers
- 2,778 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Vitamin D Receptor Target Gene Expression, Serum 25(OH)D Concentration
The Effect of a High-dose Oral Vitamin D3 Bolus on Serum 25(OH)D3 and Vitamin D Receptor Target Gene Expression
The purpose of the study is to investigate whether a high-dose vitamin D3 oral bolus (2000 micrograms) produces marked vitamin D receptor target gene expression response and whether there is large inter-individual variation.
- Trial name
- VitDbol (NCT02063334)
- Testing
- Vitamin D3
- Where
- Finland
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- University of Eastern Finland
Friedreich Ataxia, Healthy Volunteers
Determine Range of Tissue Frataxin Concentrations and Other Potential Biomarkers
To examine range of tissue frataxin (FXN) concentrations, specific ribonucleic acids, other proteins and specialized lipids in the buccal cells, blood, and skin cells of normal healthy volunteers without Friedreich's ataxia…
- Trial name
- NCT05028764
- Testing
- Buccal Swabs, Blood Draws and Skin Punch Biopsy
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Larimar Therapeutics, Inc.
Sickle Cell Disease
Evaluation of an Information Management and Communication System for Population-wide Point-of-Care Infant Sickle Cell Disease Screening
A cluster randomized trial (CRT) of the novel sickle cell disease (SCD), M-health based SCD Information Management and Communication system SIMCS vs routine new born screening strategy in health care centres in Uganda to evaluate…
- Trial name
- SMICS (NCT07610239)
- Testing
- Sickle Cell Disease screening information management and communication system
- Where
- Uganda
- Volunteers
- 24,000 people, healthy volunteers welcome
- Sponsor
- Makerere University
Cystic Fibrosis
Breath Analysis in in Adults With Cystic Fibrosis (CF)
Exploratory comparative evaluation of exhaled breath composition in cystic fibrosis patients with age and gender-matched healthy adults in order to identify a disease-specific exhaled breath pattern as well as to gain insight…
- Trial name
- NCT02209571
- Testing
- Venous blood markers
- Where
- Switzerland
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Zurich
Myocardial Infarction (MI), Hypertrophic Cardiomyopathy (HCM)
The Application of T1 Mapping in Real-World
The goal of this observational study is to create a comprehensive real-world spectrum of T1 mapping measurements across different heart conditions.
- Conditions
- Myocardial Infarction (MI), Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Arrhythmogenic Cardiomyopathy
- Trial name
- NCT07354646
- Testing
- Magnetic Resonance Imaging with Contrast
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Atopic Dermatitis Eczema, Aging
Impact of Regular Consumption of Eggs and Nutrients Fortified Eggs on Eczema Condition in Singapore Individuals
The study aims to assess the effects of daily consumption of nutrients-fortified eggs on eczema condition in Singapore individuals with eczema.
- Conditions
- Atopic Dermatitis Eczema, Aging, Diet Modification
- Trial name
- NCT06454942
- Testing
- Nutrient-fortified egg, Regular egg with habitual diet
- Where
- Singapore
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- National University of Singapore
Dyslipidemia, Diabetes
Meta-analyses of the Effect of Important Food Sources of Sugars on Cardiometabolic Risk Factors
Fructose-containing sugars have been implicated in the epidemics of obesity, diabetes and related cardiometabolic disorders. This view is supported by lower quality evidence from ecological observations, animal models, and select…
- Conditions
- Dyslipidemia, Diabetes, Prediabetes, Dysglycemia
- Trial name
- NCT02716870
- Testing
- Fructose-containing Sugars
- Where
- Canada
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- University of Toronto
Dermatitis, Atopic
Atopic Dermatitis Research Network (ADRN) Influenza Vaccine Study
Atopic dermatitis, also called eczema, is a disease in which the skin is dry and scaly with severe itching. People who have atopic dermatitis often have complications from skin infections; these can include eczema herpeticum…
- Trial name
- NCT01737710
- Testing
- Fluzone® Intradermal Vaccine, Fluzone® (Intramuscular) vaccine
- Where
- 5 sites in United States
- Volunteers
- 368 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Cascade Testing, Lynch Syndrome
Initial Testing of a Behavioral Intervention About Genetic Services for Families at Risk of Lynch Syndrome
The purpose of the study is to see if our education materials help people at risk for Lynch syndrome decide about seeking genetic services.
- Conditions
- Cascade Testing, Lynch Syndrome, Decision Making, Colorectal Cancer
- Trial name
- NCT07106359
- Testing
- Information Letter and Booklet, Information Letter
- Where
- United States
- Volunteers
- 185 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Trisomy 21
Study of High Risk Non Invasive Prenatal Test Population
The investigator want to study the population of high risk (over 1/50) of Trisomy 21. According to french guidelines, these patients needs to have a invasive test (such as amniocentesis) but some patients prefer to have a Non…
- Trial name
- NCT04737070
- Testing
- Prenatal test for Trisomy 21 screening
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Central Hospital, Nancy, France
Alzheimer Disease, Neurodegenerative Diseases
Yogic Breathing Changes Salivary Components
Our aim is to analyze two ancient Tamil practices (chanting and breathing exercise) if they are capable of stimulating saliva containing agents that can be beneficial to the nervous system.
- Conditions
- Alzheimer Disease, Neurodegenerative Diseases, Cancer
- Trial name
- NCT02108769
- Testing
- Yogic Breathing, Attention Control
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Medical University of South Carolina
Familial Mediterranean Fever
Assessment of microRNAs Role in Familial Mediterranean Fever FMF Pathophysiology
Familial Mediterranean Fever (FMF) genetic diagnosis is well established for homozygous patients. On the other hand, although heterozygous individuals are theoretically healthy carriers, 1/3 of them will develop clinical symptoms…
- Trial name
- miRinFMF (NCT06033339)
- Testing
- Blood sampling
- Where
- 4 sites in France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Uric Acid, Cardiovascular Diseases
Acute Effects of Tart Cherry on Uric Acid and Biomarkers of CVD Risk in Healthy Individuals
This study aims to provide evidence as to whether consumption of tart cherry juice can reduce the risk of gout and cardiovascular disease (CVD) in an acute context.
- Conditions
- Uric Acid, Cardiovascular Diseases, Gout
- Trial name
- NCT04960527
- Testing
- Tart cherry juice, Water
- Where
- United Kingdom
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Sheffield Hallam University
Autosomal Recessive Congenital Ichthyosis, Epidermolytic Ichthyosis
Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis
The goal of this study is to identify important biological pathways involved in a variety of ichtyosis, using transcriptomic and proteomic techniques, with the aim of guiding the development of new therapeutis.
- Trial name
- OMICHTYOSE (NCT05312073)
- Testing
- Biological samples, Skin biopsy
- Where
- France
- Volunteers
- 18 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.
Familial Mediterranean Fever
AGE and CALLY Index in Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is an autoinflammatory disease characterized by recurrent inflammatory attacks and persistent low-grade inflammation.
- Trial name
- NCT07439341
- Testing
- Skin Autofluorescence Measurement
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Bursa City Hospital
Cardiovascular Diseases
Personalised HeartCare: Poligenic Risk Scores Disclosure for Cardiovascular Prevention
The goal of this clinical trial is to evaluate whether the disclosure of Polygenic Risk Scores (PRS) combined with personalized coaching on risk factors can lead to significant improvements in lifestyle behaviors among staff…
- Trial name
- PHC (NCT06888466)
- Testing
- The result of the Polygenic Risk Score will be communicated to the patient with the aim of encouraging a change in behavior
- Where
- Italy
- Volunteers
- 650 people, healthy volunteers welcome
- Sponsor
- Catholic University of the Sacred Heart
Urea Cycle Disorders
Ureagenesis Analysis in Healthy Subjects and in Urea Cycle Disorder Patients
Urea cycle disorders (UCDs) are dramatic congenital inherited metabolic disorders. There is no cure. Many novel therapeutic approaches are currently being developed, which hopefully will change the current situation.
- Trial name
- NCT05671666
- Testing
- Urea cycle flux study
- Where
- Switzerland
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Children's Hospital, Zurich
Cystic Fibrosis
Muscle Function and Physical Activity in the Modern Era of Cystic Fibrosis
Cystic fibrosis (CF) is characterized by various extrapulmonary manifestations, including altered skeletal muscle function, with both quantitative (e.g. reduced muscle mass) and qualitative (e.g.
- Trial name
- MUCOMUSCLE (NCT06251622)
- Testing
- Volumetric ultrasound of the quadriceps and fitting of an accelerometer
- Where
- France
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
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