Clinical trials: Genetic Disorder
Atopic Dermatitis, Food Allergy
Skin Barrier Abnormalities and Oxidative Stress Response
This is a prospective, single-site controlled observational study designed to comprehensively determine whether children and adults with atopic dermatitis (AD) and food allergy (FA) have skin abnormalities which distinguish them…
- Trial name
- NCT04606615
- Where
- United States
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- National Jewish Health
Cystic Fibrosis
Microbiome Acquisition and Progression of Inflammation and Airway Disease in Infants and Children With Cystic Fibrosis
Cystic Fibrosis (CF) is a fatal, recessive genetic disorder characterized by progressive inflammation and lung damage. It is unclear whether current treatment strategies, which focus on detection and eradication of pathogenic…
- Trial name
- NCT01661491
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Yale University
Milk Intolerance
Low-grade Inflammation and Gut Symptoms From A2 and Hydrolyzed A1 Milk
The aim of this study is to reveal how different forms of milk casein, lactose and moderate breakdown of proteins affect the symptoms that may arise from milk and markers of inflammation in volunteers receiving symptoms from…
- Trial name
- NCT05305391
- Testing
- Dietary intervention
- Where
- Finland
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- University of Turku
Hemoglobinopathies, Thalassemia
Hemoglobinopathy Nursing Program and Pediatric Nursing Students
Hemoglobinopathies are the most common life threatening, monogenic disorders in the world. The most common causes of hemoglobinopathies are sickle cell disease and thalassemia.
- Conditions
- Hemoglobinopathies, Thalassemia, Sickle Cell Disease, Nurse's Role
- Trial name
- NCT05389891
- Testing
- Hemoglobinopathy Nursing Program
- Where
- Egypt
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- Beni-Suef University
Indeterminate Thyroid Cytology
Validation of a Multi-Genetic Test for the Diagnosis of Indeterminate Thyroid Nodules
A clinical trial is proposed, to clinically validate the diagnostic performance of a new genetic test developed in Chile. It will determine the nature of thyroid nodules that have been informed as indeterminate by cytology…
- Trial name
- CT-DS (NCT03061318)
- Where
- 9 sites in Chile
- Volunteers
- 3,100 people, healthy volunteers welcome
- Sponsor
- Hernán González
MELAS, LHON
A Dose-escalating Clinical Trial With KH176
Mitochondrial Diseases are rare progressive, multi-system, often early fatal disorders affecting both children and adults. KH176 is a novel chemical entity currently under development for the treatment of inherited mitochondrial…
- Conditions
- MELAS, LHON, Leigh Syndrome, Mitochondrial Disease
- Trial name
- NCT02544217
- Testing
- KH176
- Where
- Belgium
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Khondrion BV
Sexual Dysfunction, Endothelial Dysfunction
Effects of Lifestyle-modification Induced Weight Loss on Sexual and Urinary Function, and Quality of Life in Obese Men
This study aims to evaluate the extent to which weight loss of 5-10% from baseline, induced by exercise and diet, improves metabolic and inflammatory profile, endothelial function, erectile function, sexual desire, lower urinary…
- Conditions
- Sexual Dysfunction, Endothelial Dysfunction, Quality of Life, Inflammation
- Trial name
- NCT01554735
- Testing
- Exercise and diet
- Where
- Singapore
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Changi General Hospital
Sickle Cell Disease
Support Strategies for Parents During the First Year Following Their Child's Diagnosis of Sickle Cell Disorder
Background: Sickle cell disorder (SCD), the commonest genetic (faulty gene inherited from both parents) condition in the UK, affects mainly underserved groups.
- Trial name
- NCT06251843
- Where
- 2 sites in United Kingdom
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- King's College London
Schizophrenia, Major Depressive Disorder
Identification of Multi-modal Bio-markers for Early Diagnosis and Treatment Prediction in Schizophrenia Individuals
This study aims to screen and validate multi-scale bio-markers for early diagnosis and medication monitoring for early schizophrenia, including the genetic, neurobiochemistry, neuroimaging and eletrophysiological measures.
- Conditions
- Schizophrenia, Major Depressive Disorder, Anxiety Disorders
- Trial name
- NCT03790085
- Testing
- Risperidone, Olanzapine, Aripiprazole
- Where
- China
- Volunteers
- 2,700 people, healthy volunteers welcome
- Sponsor
- Tianjin Medical University General Hospital
Atopic Dermatitis
A Study of Orally Administered IPG7236 in Healthy Adult Participants
The study is a phase 1, randomized, double-blind, placebo-controlled, single and multiple dose escalation study to evaluate the safety, tolerability, pharmacokinetic and food effect of orally administered IPG7236 in healthy adult…
- Trial name
- NCT05288543
- Testing
- IPG7236- Single ascending dose, IPG7236- Multiple ascending dose
- Where
- Australia
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- Nanjing Immunophage Biotech Co., Ltd
Hereditary Oral Clefts
Genetic Analysis of Hereditary Non-Syndromic Oral Clefts
In a collaborative effort with the IBN AL-NAFEES Hospital (Damascus, Syrian Arab Republic), individuals from multiplex families determined to have hereditary oral clefts will be studied.
- Trial name
- NCT00340626
- Where
- Syria
- Volunteers
- 690 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hypercholesterolemia
Screening for Hypercholesterolemia in Children Using Dried Blood Spot
Purpose: Heterozygous Familial Hypercholesterolemia (HeFH) is a common genetic disease responsible for premature atherosclerosis.
- Trial name
- CHOLESPOT (NCT05191355)
- Testing
- blood test
- Where
- 2 sites in France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Exostoses, Multiple Hereditary
The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses
The purpose of this study is to assess the health-related quality of life of subjects who have Hereditary Multiple Exostoses and to develop a disease specific quality of life survey.
- Trial name
- NCT00474448
- Where
- Canada
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Coronary Heart Disease
Rapid Engagement for Solutions to Population and Outcomes Through Networked Dialogue for Coronary Heart Disease
Cardiometabolic diseases are major causes of morbidity and mortality in the state of Wisconsin and are expected to pose an increasing burden over the next few decades.
- Trial name
- RESPOND (NCT07260552)
- Testing
- Polygenic risk score
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Medical College of Wisconsin
Cystic Fibrosis, Sickle Cell Disease
Exercise in Child Health
This study is a cooperative investigation funded by the NIH. The project is a collaboration among three major NIH Clinical Translational Science Awardees: 1) UCI (lead site with its affiliate CHOC), 2) Northwestern University…
- Conditions
- Cystic Fibrosis, Sickle Cell Disease, SARS CoV 2 Infection
- Trial name
- Project REACH (NCT05359991)
- Testing
- Exercise
- Where
- United States
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University of California, Irvine
Small Fiber Neuropathy, Fabry Disease
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction.
- Conditions
- Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
- Trial name
- NCT02985710
- Testing
- Sudoscan, Skin biopsy, QSART
- Where
- United States
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
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
Neurological and Mental Health Conditions, Genetic Susceptibility
Mapping Antenatal Maternal Stress
This study recruits women from early-mid pregnancy and later follows their children after birth, tracking both the mother and child until the child reaches at least 4 years of age.
- Conditions
- Neurological and Mental Health Conditions, Genetic Susceptibility, Socioeconomic Factors, Psychology, Social
- Trial name
- MAMS (NCT07432217)
- Where
- Singapore
- Volunteers
- 1,419 people, healthy volunteers welcome
- Sponsor
- Institute for Human Development and Potential (IHDP), Singapore
Obsessive-Compulsive Disorder
Serotonin Transporters in Obsessive-Compulsive-Related Disorders
This study will compare serotonin transporters in patients with obsessive-compulsive disorder (OCD) and healthy volunteers in order to better understand the role of serotonin in OCD.
- Trial name
- NCT00082550
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Fragile X Syndrome
Effect of CBD on the Brain
This proposal focuses on the therapeutic relevance of the endocannabinoid (eCB) system for the treatment of Fragile-X syndrome (FXS), the primary hereditary cause of autism spectrum disorder (ASD).
- Trial name
- NCT06261450
- Testing
- CBD Oral Solution (eCBD system Target)
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Université de Sherbrooke
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.