Clinical trials: Genetics Predisposition
Transfusional Iron Overload, Thalassemia Major
High-Tc Susceptometer to Monitor Transfusional Iron Overload
The proposed research project will continue the application and development of a new method (biomagnetic susceptometry) that measures magnetic fields to determine how much iron is in the liver.
- Conditions
- Transfusional Iron Overload, Thalassemia Major, Sickle Cell Disease, Myelodysplastic Syndromes
- Trial name
- NCT01241357
- Testing
- Hepatic biomagnetic susceptibility measurement
- Where
- United States
- Volunteers
- 99 people, healthy volunteers welcome
- Sponsor
- Columbia University
Diabetes Mellitus
Genetics of Type 1 Diabetes in Chinese Adolescents and Youth
primary outcome: To explore the genetic susceptibility of diabetes in Chinese adolescent and youth. secondary outcomes: 1. To classify diabetes by gene detection in Chinese adolescent and youth. 2.
- Trial name
- NCT01938365
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Shanghai Jiao Tong University School of Medicine
Cystic Fibrosis
Trikafta/Kaftrio and Pseudomonas Aeruginosa
The goal of this observational study o is to define whether, how and to what extent treatment with Trikafta/Kaftrio directly affects Pseudomonas aeruginosa in individuals with cystic fibrosis.
- Trial name
- Kaf-Pseudo (NCT05675592)
- Where
- 2 sites in Italy
- Volunteers
- 20 people
- Sponsor
- Ospedale San Raffaele
Melanoma, Skin Cancer
A Model for Genetic Susceptibility: Melanoma
The goal of this study is to find out if some people are more likely to get melanoma, a form of skin cancer, than others are. To do this we will compare people who have had more than one melanoma to people who have had only one…
- Trial name
- NCT00591500
- Testing
- Questionnaire
- Where
- United States
- Volunteers
- 4,082 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Hemochromatosis, Iron Overload
MRI QSM Imaging for Iron Overload
The overall goal of this project is to develop and validate a novel technique for Magnetic Resonance Imaging (MRI)-based Quantitative Susceptibility Mapping (QSM) of the abdomen, for non-invasive assessment of liver iron…
- Trial name
- NCT04631718
- Testing
- Magnetic Resonance Imaging (MRI)-based Quantitative Susceptibility Mapping (QSM)
- Where
- 2 sites in United States
- Volunteers
- 63 people
- Sponsor
- University of Wisconsin, Madison
Metabolic Dysfunction-Associated Steatotic Liver Disease, Pediatric Obesity
Non-Invasive Diagnostic Panel for MASLD in Children With Obesity
This prospective, single-center, two-group observational study evaluates a non-invasive multi-parameter diagnostic panel for metabolic dysfunction-associated steatotic liver disease (MASLD) in children with obesity.
- Conditions
- Metabolic Dysfunction-Associated Steatotic Liver Disease, Pediatric Obesity, Insulin Resistance Syndrome
- Trial name
- PedMASLD-Pilot (NCT07731360)
- Testing
- Non-Invasive Multi-Parameter Diagnostic Panel
- Where
- Turkey (Türkiye)
- Volunteers
- 180 people
- Sponsor
- Kayseri City Hospital
Enterovirus 71, Host Genetics, Social, Behavior, Environmental Factors
Children's Susceptibility to Enterovirus 71 in Different Areas of Taiwan
EV71 has caused large epidemics with lots of fatal cases and cases with sequelae. However, the clinical syndromes and severity of the same EV71 strain are very diverse, ranging from asymptomatic (71%) to fatal (0.05%) disease…
- Trial name
- DMR100-IRB-010 (NCT01311921)
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- China Medical University Hospital
Invasive Streptococcal Infection, Invasive Group A Streptococcal Disease
Genetic Susceptibility to Severe Streptococcal Infections
Invasive bacterial infection is a dangerous but relatively uncommon disease where bacteria spread deep into the body causing diseases like blood poisoning ('bacteraemia'), pneumonia, meningitis and others.
- Conditions
- Invasive Streptococcal Infection, Invasive Group A Streptococcal Disease, Invasive Group B Streptococcal Disease, Necrotising Fasciitis
- Trial name
- NCT01911572
- Where
- United Kingdom
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Oxford
Cardiomyopathies, Genetic Predisposition
Biomarkers in SCOTland CardiomyopatHy Registry (Bio-SCOTCH)
Genetic cardiomyopathy is increasingly recognised and can lead to heart failure, arrhythmia and sudden cardiac death. Some gene positive patients have rapidly progressive disease with high rates of heart failure and cardiac…
- Conditions
- Cardiomyopathies, Genetic Predisposition, Cardiomyopathy, Primary
- Trial name
- NCT06446271
- Testing
- Plasma biomarker levels
- Where
- United Kingdom
- Volunteers
- 750 people
- Sponsor
- NHS Greater Glasgow and Clyde
Listeriosis
Genetic Susceptibility and Biomarkers in Listeriosis
Listeriosis is a rare, severe foodborne infection caused by the bacterium Listeria monocytogenes (Lm). It manifests as septicemia, central nervous system (CNS) infection and maternal-fetal (MF) infection.
- Trial name
- MONALISAGENBIO (NCT02924220)
- Where
- France
- Volunteers
- 1,080 people, healthy volunteers welcome
- Sponsor
- Institut Pasteur
Non-Medullary Thyroid Cancer
Clinical and Genetic Studies in Familial Non-medullary Thyroid Cancer
Background: Researchers are studying types of thyroid cancer that seem to cluster in families. Non-medullary thyroid cancer accounts for the vast majority of all types of thyroid cancer, but little is known about possible genes…
- Trial name
- NCT01109420
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Prostate Cancer, Genetic Predisposition
In Situ Clonal Heterogeneity in Prostatic Diagnostic Biopsies
This is a retrospective, proof of concept study, which aims at reconstructing the cellular heterogeneity of the tumor in multi-needle diagnostic prostate biopsy as well as any biopsy containing potentially pre-malignant tissue…
- Trial name
- NCT04873427
- Testing
- clonal heterogeneity evaluation
- Where
- Switzerland
- Volunteers
- 40 people
- Sponsor
- Clinica Luganese Moncucco
Endometrial Cancer, Genetic Predisposition
Molecular Classification in Relation to Prevention of Endometrial Cancer Recurrence and Lifestyle Factors
Endometrial cancer (EC) is one of the most prevalent cancers in women worldwide with a significantly increasing incidence, especially in developed countries.
- Conditions
- Endometrial Cancer, Genetic Predisposition, Risk Behavior
- Trial name
- MPEC (NCT06680791)
- Where
- Czechia
- Volunteers
- 280 people
- Sponsor
- Lukas Vanek
Type1diabetes, Celiac Disease
Newborn Screening for Genetic Susceptibility to Type 1 Diabetes and Celiac Disease and Prospective Follow-up Study
This is an observational study, in which newborn infants from the general population are screened at birth for HLA-conferred susceptibility to type 1 diabetes and celiac disease.
- Trial name
- BABYSCREEN (NCT04958356)
- Where
- Finland
- Volunteers
- 9,690 people, healthy volunteers welcome
- Sponsor
- University of Helsinki
Alcoholism, HIV Infection
Genetic Factors and Interrelationships for Sexual Orientation, Susceptibility to HIV and Kaposi's Sarcoma, Alcoholism and Psychological Traits, and Histocompatibility Antigens
We propose to test, by DNA linkage analysis of family pedigree members, the following interrelated hypotheses: 1) that sexual orientation is genetically influenced; 2) that the development of Kaposi's sarcoma and other outcomes…
- Conditions
- Alcoholism, HIV Infection, Homosexuality, Kaposi's Sarcoma
- Trial name
- NCT00001294
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Kawasaki Disease, Atypical Kawasaki Disease
Genetic Determinants of Kawasaki Disease
Kawasaki disease (KD) is an acute self-limited vasculitis of infancy and early childhood. Most patients recover without sequelae although the inflammatory process causes permanent damage to the coronary arteries in 20-25% of…
- Trial name
- NCT03861130
- Where
- United Kingdom
- Volunteers
- 1,379 people
- Sponsor
- Imperial College London
Neurotoxicity Syndrome, Cassava, Neurotoxicity Syndrome, Cyanate
Cassava Intervention Project
Investigators will implement a novel cassava processing method (wetting method, WTM) that safely removes cyanogenic compounds from cassava flour prior to human consumption in a stratified village-cluster randomized…
- Conditions
- Neurotoxicity Syndrome, Cassava, Neurotoxicity Syndrome, Cyanate, Neurotoxicity Syndrome, Cyanide, Neurotoxicity Syndrome, Thiocyanate
- Trial name
- NCT03157336
- Testing
- Non Inferiority WTM Interventional Trial
- Where
- Democratic Republic of the Congo
- Volunteers
- 1,200 people
- Sponsor
- Ministry of Public Health, Democratic Republic of the Congo
Fanconi Anemia, Anemia, Hypoplastic, Congenital
Prenatal Transplantation for Fetuses With Fanconi Anemia
The investigators aim to evaluate the safety and efficacy of in utero hematopoietic stem cell transplantation (IUHSCT) for the treatment of fetuses diagnosed with Fanconi anemia (FA) during pregnancy.
- Conditions
- Fanconi Anemia, Anemia, Hypoplastic, Congenital, Congenital Bone Marrow Failure Syndromes, Bone Marrow Failure Disorders
- Trial name
- NCT07408583
- Testing
- IUHSCT for FA-affected fetuses
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Agnieszka Czechowicz
Confirmed Diagnosis of Cystic Fibrosis
Impact of Early Lung Physiology, Viral Infections and the Microbiota on the Development and Progression of Lung Disease in Children With Cystic Fibrosis
This study collects data on microbiological factors and lung function parameters (e.g. spirometry, body plethysmography, lung-MRI) to assess their interaction on the lung growth and lung development of infants and children with…
- Trial name
- SCILD (NCT04026360)
- Testing
- no intervention
- Where
- Switzerland
- Volunteers
- 500 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Neurodegeneration With Brain Iron Accumulation (NBIA), Iron Metabolism Disorders
Brain Iron in Beta-Propeller Protein Associated Neurodegeneration (BPAN)
This study aims to quantify intracerebral iron load in patients with Beta-Propeller Protein-Associated Neurodegeneration (BPAN) using Quantitative Susceptibility Mapping (QSM) technique.
- Conditions
- Neurodegeneration With Brain Iron Accumulation (NBIA), Iron Metabolism Disorders, Brain Disease
- Trial name
- QUBIPAN (NCT07868120)
- Testing
- Standardized brain MRI including specific sequences usable for Quantitative Susceptibility Mapping (QSM)
- Where
- France
- Volunteers
- 3 people
- Sponsor
- University Hospital, Bordeaux