Clinical trials: Genetic Predisposition
Wearable Electronic Devices, Polygenic Risk Score
DELphi Procedure for Developing Recommendations for the Implementation of Wearable Devices and Polygenic Risk Scores
DEL-DIP is a prospective observational study employing a Delphi methodology (at least two online rounds) to elicit and consolidate the views of an expert panel within the INNOPREV project.
- Conditions
- Wearable Electronic Devices, Polygenic Risk Score, CVD - Cardiovascular Disease, Primary Prevention
- Trial name
- DEL-DIP (NCT07358481)
- Where
- Italy
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Melanoma, Spitzoid Melanoma
Identification of Risk Factors, Exposomics and Genetic Susceptibility of Melanoma in Children, Adolescents and Young Adults
The primary objective of this study is the identification of environmental and genetic factors involved in the risk and progression of melanoma in children, adolescents and young adults (CAYA).
- Conditions
- Melanoma, Spitzoid Melanoma, Congenital Nevi
- Trial name
- ExpoMel (NCT06680323)
- Where
- 6 sites in Germany, Italy and 3 more
- Volunteers
- 200 people
- Sponsor
- University Hospital Tuebingen
Acromegaly, Gigantism
Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA
The research is aimed at identifying new predisposition genes for endocrine tumours. Our focus initially is on pituitary adenomas including growth hormone-secreting tumors (somatotrophinomas) and prolactin secreting tumours…
- Conditions
- Acromegaly, Gigantism, Familial Isolated Pituitary Adenoma, FIPA
- Trial name
- NCT00461188
- Where
- 3 sites in United Kingdom
- Volunteers
- 10,000 people
- Sponsor
- Barts & The London NHS Trust
Pediatric Disorder, Genetic Predisposition
Pharmacogenomic Contributions to Trihexyphenidyl Biotransformation and Response in Children With Dystonic Cerebral Palsy
This study looks at how a medicine called trihexyphenidyl works in children with dystonic cerebral palsy. The study aims to understand how trihexyphenidyl is broken down and used in the body of pediatric patients and whether this…
- Conditions
- Pediatric Disorder, Genetic Predisposition, Dystonia, Secondary, Dystonia
- Trial name
- TRIKE2 (NCT06554288)
- Testing
- Trihexyphenidyl
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Children's Mercy Hospital Kansas City
Lung Cancer
Genetic Susceptibility to Lung Cancer in Never Smokers
The purpose of this study is to help us better understand the cellular changes that may lead to the development of lung cancer. We want to compare people who have never smoked and yet have been diagnosed with lung cancer to never…
- Trial name
- NCT00597636
- Testing
- Questionaire, blood sample
- Where
- United States
- Volunteers
- 238 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
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
Kidney Neoplasms, Kidney Cancer
Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer
This study will investigate the genetic cause of Birt Hogg-Dube (BHD) syndrome and the relationship of this disorder to kidney cancer.
- Conditions
- Kidney Neoplasms, Kidney Cancer, Pneumothorax, FLCN Protein, Human
- Trial name
- NCT00033137
- Where
- United States
- Volunteers
- 950 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Renal Tumor Histology, Kidney Cancer
Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes
This study will investigate the frequency, clinical phenotype, management and molecular genetic defects of heritable kidney cancer syndromes. Families with kidney cancer with known or suspected genetic basis will be enrolled.
- Conditions
- Renal Tumor Histology, Kidney Cancer, Renal Cell Carcinoma, Familial Renal Cancer
- Trial name
- NCT05534854
- Testing
- Gene test
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- RenJi Hospital
Nephrolithiasis
Genetic Study of Nephrolithiasis in Gouty Diathesis
Gouty diathesis describes uric acid or calcium oxalate nephrolithiasis and low urinary pH (<5.5). A hereditary component has been outlined for several forms of nephrolithiasis (such as hypercalciuria, hyperoxaluria, cystinuria…
- Trial name
- NCT00149305
- Testing
- Genetic analyses
- Where
- Italy
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research
Hemophilia
Genetic Susceptibility to Factor VIII Inhibitors
This international study will identify genetic factors that may influence the development of inhibitory antibodies in patients with hemophilia A after treatment with factor VIII.
- Trial name
- NCT00344435
- Where
- Sweden
- Volunteers
- 1,187 people
- Sponsor
- National Cancer Institute (NCI)
Asthma
Genetic Susceptibility to Childhood Respiratory IIlness in Mexico City
We propose to add a collection of genetic material to a clinical trial of anti-oxidant supplementation for the amelioration of asthma in 7-12 year olds being conducted at a public pediatric hospital in Mexico City.
- Trial name
- NCT00339521
- Where
- Mexico
- Volunteers
- 2,362 people
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Vascular Dysfunction, Genetic Mutations
Vascular Disease Discovery Protocol
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels.
- Conditions
- Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
- Trial name
- NCT03538639
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Rare Diseases, Genetic Predisposition to Disease
Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program
The GE-MED APPROACH project will enroll patients (n = appr. 12.000) with unclear molecular cause of the disease, suspected genetic cause of the disease without detailed molecular analysis like Whole Exome Sequencing (WES).
- Trial name
- GE-MED (NCT04760522)
- Testing
- WGS Diagnostic: Blood take for genetic diagnostic
- Where
- Germany
- Volunteers
- 12,000 people
- Sponsor
- University Hospital Tuebingen
Breast Cancer, Healthy
Susceptibility to Breast Cancer
This study will explore whether different forms, or variants, of genes are related to a person s risk of developing breast cancer.
- Trial name
- NCT00004565
- Where
- United States
- Volunteers
- 737 people
- Sponsor
- National Cancer Institute (NCI)
Diabetes Mellitus, Diabetes Mellitus, Type 1
Genetic Risk Score of Type 1 Diabetes Mellitus for Progression to Insulin in Diabetic Patients Lack of Predictive Value: a Multicenter Nested Case-control Study
The goal of this observational study is to evaluate the predictive value of the genetic risk score for type 1 diabetes in the progression to insulin deficiency in diabetic patients. The main question it aims to answer is: 1.
- Trial name
- NCT07621445
- Where
- China
- Volunteers
- 2,950 people
- Sponsor
- Second Xiangya Hospital of Central South University
Gastroenteritis, Acute Gastroenteritis
Glycan Attachment Specificity, Toward ROtavirus Vaccine IMprovement GASTROVIMc (Clinical Investigation)
The GASTROVIM research explores the links between individual genetic susceptibility, genetic variability of rotavirus strains and effectiveness of immunization with the rotavirus vaccination: a clinical investigation to assess…
- Trial name
- Gastrovimc (NCT02902445)
- Testing
- rotavirus rapid screen test, polymorphism exploration
- Where
- France
- Volunteers
- 611 people
- Sponsor
- Nantes University Hospital
Predisposition, Genetic, Cancer
Investigating the Role of Genetics in Disease Predisposition
Gametogenesis is the production of sperm and eggs; it takes place through the process of meiosis. Gametogenesis is subject to the acquisition of mutations as with other processes in the body.
- Conditions
- Predisposition, Genetic, Cancer, Mutation, Fertility Disorders
- Trial name
- NCT06584994
- Testing
- sample collection
- Where
- United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
COVID-19, Coronavirus 2019
Genetics of COVID-19 Susceptibility and Manifestations
Background: Coronavirus 2019 (COVID-19, or SARS-CoV-2) is a serious public health problem, and genetics may play a role in how serious the illness becomes in certain people.
- Trial name
- NCT04371432
- Where
- United States
- Volunteers
- 721 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Pheochromocytoma, Paraganglioma
Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous.
- Conditions
- Pheochromocytoma, Paraganglioma, Inherited Cancer Syndrome, Associated Conditions
- Trial name
- NCT03160274
- Testing
- Genetic screening
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center at San Antonio
Genetic Predisposition, Cancer
Genetic Investigation of Cancer Predisposition
Clinical information and samples (blood, saliva, and tumor) will be collected from patients with multiple cancers and/or a family history of cancer as well as from affected and unaffected relatives; samples will be systematically…
- Trial name
- NCT04620278
- Testing
- DNA or RNA Sequencing
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- The University of Texas Health Science Center at San Antonio