Clinical trials: Genetic Mutations
Endometrial Cancer, Endometrial Cancer Precursors
The DETECT Study: Discovery and Evaluation of Testing for Endometrial and Ovarian Cancer in Tampons
BACKGROUND: Endometrial cancer is a common and deadly cancer for women. It is getting more common and deadly because risk factors like age and obesity are increasing.
- Conditions
- Endometrial Cancer, Endometrial Cancer Precursors, Ovarian Cancer, Complex Atypical Endometrial Hyperplasia
- Trial name
- DETECT (NCT03538665)
- Where
- United States
- Volunteers
- 1,700 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Invasive Aspergillosis, Acute Leukemia
Diagnostic Study of Combined Biomnarker Testing in Bronchoalveolar Lavage Samples of Immunocompromised Patients
The aim of our prospective and multicentre diagnostic study is therefore to elucidate on the sensitivity and specificity rates of these serologic markers in combination with molecular tools (both an Aspergillus specific and a…
- Conditions
- Invasive Aspergillosis, Acute Leukemia, Biomarkers, Stem Cell Transplantation
- Trial name
- NCT01695512
- Where
- Germany
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Heidelberg University
Congenital Diaphragmatic Hernia
Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia (CDH) occurs when the diaphragm, the muscle that separates the chest cavity from the abdominal cavity, does not form properly.
- Trial name
- NCT01098929
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Heterozygous Carriers of Gitelman Syndrome
Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl Cotransporter
Gitelman syndrome is a salt wasting tubulopathy caused by mutations in the SLC12A3 gene coding for the thiazide sensitive sodium chloride cotransporter.
- Trial name
- HEPHYGI (NCT02035046)
- Testing
- Samplings of blood, Sampling of urine, Measure of the blood pressure
- Where
- 5 sites in France
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Mesothelioma, Malignant Pleural
Genetic Susceptibility in MAlignant Pleural Mesothelioma: Clinical Implication of GermliNE variaTionS
Malignant pleural mesothelioma (MPM) is a rare and aggressive neoplasm of the pleural mesothelium, mainly associated to asbestos exposure, still lacking effective therapies.
- Trial name
- MAGNETS (NCT06886672)
- Where
- 2 sites in Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
Type 2 Diabetes Mellitus, Gene Polymorphisms
Effect of Mutations in T2DM Susceptibility Genes on the Expression of Susceptibility Genes in Patients With T2DM and Controls
In this study, investigators wanted to determine the effect of T2DM susceptibility gene mutations on self-expression. Participants (T2DM patients and controls) were recruited to identify genotypes and detect the levels of T2DM…
- Conditions
- Type 2 Diabetes Mellitus, Gene Polymorphisms, Genetic Mutations, Susceptibility, Genetic
- Trial name
- NCT06277466
- Testing
- Fresh normal pancreatic tissues or adjacent tissues of pancreatic cancer were collected from controls and T2DM patients without hypoglycemic drugs, Fresh blood samples were collected from healthy subjects and T2DM patients without hypoglycemic drugs
- Where
- China
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- The Affiliated Hospital of Xuzhou Medical University
Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations
Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome
Background: A germline mutation is a change to a person s genes that is carried through their DNA. These mutations can be passed on from parents to their offspring.
- Conditions
- Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations, Tumor Predisposition Syndrome (TPDS), Mesothelioma
- Trial name
- NCT04431024
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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
Lipid Disorder
Genetic Origin of Lipid Disorders
Several lipid disorders are without known genetic origin. The scope of this project is to sequence genes superior involved in lipid and carbohydrate metabolism in patients with severe lipid disorders.
- Trial name
- NCT00277121
- Where
- Norway
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Oslo
Breast Carcinoma, Genetic Predisposition to Cancer
MEASUREMENT OF CIRCULATING MUTATION BURDEN
Cancer-free women with a hereditary predisposition to breast and/or ovarian cancer
- Conditions
- Breast Carcinoma, Genetic Predisposition to Cancer, BRCA Mutation, cfMB
- Trial name
- cRISK (NCT06792721)
- Testing
- Mutation Burden cfMB analysis
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Centre Francois Baclesse
Pentalogy of Cantrell, Mutations in Non-muscle Genes
Genes Mutation Pentalogy of Cantrell
This study will collect blood, urine, and other tissue samples from 50 patients study-wide with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle genes.
- Trial name
- NCT00477932
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Children's Healthcare of Atlanta
Prostate Cancer, Genetic Predisposition to Disease
Prophylactic Prostatectomy for Prostate Cancer (PPPC)
Prostate cancer affects 1-in-8 people assigned male at birth in the UK and kills almost 12,000 annually. Half the cases occur due to genetic factors.
- Conditions
- Prostate Cancer, Genetic Predisposition to Disease, BRCA Mutation
- Trial name
- PPPC (NCT06470685)
- Testing
- Qualitative Research Interviews
- Where
- United Kingdom
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust