Clinical trials: Genetic Disorders
MELAS Syndrome
L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome
MELAS patients suffer from exercise intolerance, weakness, poor vision or blindness, poor growth, developmental delay, and deafness.
- Trial name
- NCT01603446
- Testing
- L-Arginine
- Where
- Canada
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- The Hospital for Sick Children
Hemoglobinopathies
Screening for Hemoglobinopathies in Pregnant Women
This prospective monocentric study project is to identify hemoglobinopathies in pregnant women in order to optimize antenatal care and to investigate the prevalence of hemoglobinopathies in pregnant women in Switzerland.
- Trial name
- NCT04029142
- Testing
- Review of routine lab data
- Where
- Switzerland
- Volunteers
- 1,785 people, healthy volunteers welcome
- Sponsor
- University Hospital, Basel, Switzerland
Colorectal Cancer, Precancerous Condition
Biological, Genetic, and Lifestyle Risk Factors for Developing Colorectal Adenomas or Polyps in Participants Undergoing Colonoscopy
RATIONALE: Collecting and storing samples of tissue, blood, and other body fluids to test in the laboratory and gathering information about health and lifestyle from participants may help doctors learn more about cancer risk…
- Trial name
- NCT00625066
- Testing
- biologic sample preservation procedure, cytology specimen collection procedure, medical chart review
- Where
- 4 sites in United States
- Volunteers
- 8,108 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University
Pancreatic Cancer
Stool Testing for Pancreatic Cancer
The purpose of this study is to determine if pancreatic cancer/pre-cancer can be detected in early stages through the molecular analysis of stool samples.
- Trial name
- NCT01104129
- Where
- United States
- Volunteers
- 158 people, healthy volunteers welcome
- Sponsor
- Columbia University
Type 1 Diabetes, Autoimmunity
Prospective Assessment in Newborns for Diabetes Autoimmunity
This is an observational study designed to help researchers understand the genetics and pathogenesis of type 1 diabetes, and to identify biomarkers for disease and disease complication prediction.
- Trial name
- PANDA (NCT00649246)
- Where
- 3 sites in United States
- Volunteers
- 25,055 people, healthy volunteers welcome
- Sponsor
- Augusta University
Pregnancy, Birth Defects
Influence of Genetics on Vitamin Metabolism in Pregnant Women
This study will examine how the body metabolizes micronutrients, such vitamins, during pregnancy and how genetic make-up influences their metabolism.
- Trial name
- NCT00340366
- Where
- Ireland
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Rheumatoid Arthritis (RA, Ankylosing Spondylitis
Skin Autofluorescence Assessment of Advanced Glycation End Products in Rheumatic Diseases
Rheumatic diseases are chronic inflammatory conditions that can lead to long-term tissue damage and increased cardiovascular and metabolic risk.
- Conditions
- Rheumatoid Arthritis (RA, Ankylosing Spondylitis, Psoriatic Arthritis, Reactive Arthritis (ReA)
- Trial name
- NCT07329556
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Bursa City Hospital
Atopic Dermatitis
A Food Effect Study of VC005 Tablets in Healthy Adult Subjects.
This study will adopt a randomized, open-label, two-period, 2-way crossover design to evaluate Food effect of VC005 Tablets in healthy subjects
- Trial name
- NCT07533851
- Testing
- VC005 Tablets
- Where
- China
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Jiangsu vcare pharmaceutical technology co., LTD
Delirium
Predicting the Risk of Post-operative Delirium: Use of Neuropsychology, Serum and CSF Biomarkers and Genetics to Predict Risk of Post-operative Delirium
The purpose of the study is to determine if pre-operative neuropsychological characteristics, apolipoprotein E4 status and/or cerebrospinal fluid (CSF) and serum biomarkers can predict those most at risk of post-operative…
- Trial name
- NCT02299037
- Where
- United Kingdom
- Volunteers
- 316 people, healthy volunteers welcome
- Sponsor
- Belfast Health and Social Care Trust
Autosomal Dominant Retinitis Pigmentosa
Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes
Identify new genes responsible for autosomal dominant retinitis pigmentosa (ADRP), one of the most common causes of hereditary diseases of the retina, and thus better understand the mechanisms involved of the disease."
- Trial name
- NCT01235624
- Testing
- genetic analysis
- Where
- France
- Volunteers
- 1,161 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
PTEN, ASD
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
The purpose of this study is to determine cross-sectional and longitudinal medical, behavioral, and cognitive differences between PTEN ASD and other groups, as well as to identify cognitive, neural systems, and molecular…
- Conditions
- PTEN, ASD, Autism, Macrocephaly
- Trial name
- NCT02461446
- Where
- 5 sites in United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Elasticum, Incomplete Pseudoxanthoma
The Characteristics of Backscattering With Depth in the Progression of Keratoconus
To investigate the variation in backscattering with depth between forme fruste keratoconus (FFKC), keratoconus, and normal eyes; to determine the backscattering changes in the characteristics of keratoconus progression; and to…
- Trial name
- NCT06050629
- Where
- China
- Volunteers
- 223 people, healthy volunteers welcome
- Sponsor
- Tianjin Eye Hospital
Lactose Intolerance
Association Between Lactase Deficiency, and the Small Intestinal Microbiome in Adults.
The purpose of this study is to study the role of the enzyme (substance produced by the body that helps in a biochemical reaction like digestion in the body) responsible for digestion of lactose and the role of the gut bacteria…
- Trial name
- NCT03860051
- Where
- United States
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Indiana University
CADASIL
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Study
This is an observational study to better understand the risk factors and progression of CADASIL, a leading cause of vascular cognitive impairment and dementia (VCID).
- Trial name
- NCT05677880
- Testing
- Study Procedures
- Where
- 12 sites in United States
- Volunteers
- 660 people, healthy volunteers welcome
- Sponsor
- University of Wisconsin, Madison
Healthy, Cystic Fibrosis
Comparison of Amikacin Lung Delivery With Two Nebulizers
Comparison between two modalities of nebulization.
- Trial name
- NCT02538588
- Testing
- Nebulizer 1, Nebulizer 2
- Where
- Belgium
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Alzheimer's Disease, Huntington's Disease
A Phase I Study To Estimate The Effect Of Ketoconazole And Omeprazole On The Pharmacokinetics Of Dimebon In Healthy Subjects Who Are Normal Or Poor CYP2D6 Metabolizers
This study will evaluate the potential for a drug-drug interaction of Dimebon with ketoconazole and omeprazole, potent inhibitors of the drug metabolizing enzymes CYP3A4 and CYP2C19, respectively.
- Trial name
- NCT00931073
- Testing
- Dimebon alone, Dimebon + Ketoconazole, Dimebon + Omeprazole
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Pfizer
Obesity Prevention, Pediatric Obesity
Relationship Between Eating Patterns, Body Composition and the Detection of Fatty Liver in Children and Adolescents With Trisomy 21: LiverTy Project
Childhood obesity is a growing public health issue affecting millions of children worldwide, increasing the risk of metabolic and cardiovascular diseases in adulthood.
- Conditions
- Obesity Prevention, Pediatric Obesity, Trisomy 21, Down Syndrome (Trisomy 21)
- Trial name
- LiverTy (NCT06888570)
- Testing
- To evaluate fat liver content in the cases/controls population.
- Where
- Spain
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- IMDEA Food
Atopic Dermatitis
The Effect of Diluted Sodium Hypochlorite Solution and Moisturizers on Skin Barrier Function in Atopic Dermatitis
The goal is this study is to investigate the effects of dilute bleach on the skin of subjects with atopic dermatitis and those with healthy skin.
- Trial name
- AD (NCT02594969)
- Testing
- Bleach Bath and Moisturizers
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of California, Davis
Gaucher Disease
Taste Evaluation of Different Liquid Formulations With Eliglustat
Primary Objective: The purpose of this study is to assess the palatability of eliglustat prototype liquid formulations in healthy subjects.
- Trial name
- NCT02422654
- Testing
- eliglustat
- Where
- United States
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
Anemia, Iron Deficiency, Iron Overload
Ethnic Differences in Iron Absorption (FeGenes)
This study aims to; 1) investigate population differences in iron absorption between East Asians and Northern Europeans; 2) assess population differences in hormonal and biochemical determinants of Fe absorption between East…
- Trial name
- FeGenes (NCT04198545)
- Where
- 2 sites in United States
- Volunteers
- 515 people, healthy volunteers welcome
- Sponsor
- Cornell University
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.