Clinical trials: Genetic Mutation
BRCA Mutation, Ovarian Cancer
Prediction of Germline BRCA 1/2 Genes From Healthy Ovaries
The project aims at enhancing performance metrics and prospectively validating a radiogenomics model based on ovarian US images for predicting germline breast cancer susceptibility gene 1 and/or 2 (BRCA) status in women with…
- Conditions
- BRCA Mutation, Ovarian Cancer, Ultrasound Therapy; Complications
- Trial name
- PROBE-II (NCT05769517)
- Testing
- Germinal BRCA
- Where
- Italy
- Volunteers
- 6,465 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Solid Tumor
An Exploratory Basket Study of Pyrotinib Maleate Tablets in HER2 Mutated or Amplified of Metastatic Solid Tumors
A single arm, open-label Phase II clinical study.The subjects were patients with lung, gastric and colorectal cancers.
- Trial name
- NCT05274191
- Testing
- Pyrotinib Maleate, standard regimen
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Zhongshan Hospital Xiamen University
Li-Fraumeni Syndrome, Neoplasms
Clinical and Genetic Studies of Li-Fraumeni Syndrome
Background: Li-Fraumeni syndrome (LFS) is a genetic condition that increases the risk for some types of cancer. LFS may lead to cancer of the bone or connective tissue, breast, and brain.
- Conditions
- Li-Fraumeni Syndrome, Neoplasms, Tp53 Mutations
- Trial name
- NCT01443468
- Where
- 2 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Parkinson Disease
Characteristics of Parkinson s Disease Associated With the LRRK-2 Gene Mutation
This study will identify symptoms and other characteristics of Parkinson s disease that may be associated with changes in a gene called leucine-rich repeat kinase 2 (LRRK2).
- Trial name
- NCT00467090
- Where
- United States
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Stroke, Brain Ischemia
The Association of Omentin and Ischemic Stroke
This observational study aims to research whether there is a relationship between omentin and ischemic stroke on the aspects of incidence, severity, and recovery etc.
- Conditions
- Stroke, Brain Ischemia, Adipokines, Mutation
- Trial name
- NCT03125759
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Xi'an No.3 Hospital
Breast Cancer Female, BRCA1 Mutation
Interest of Broadband Spectroscopy Analysis by Infrared Laser on Liquid Biopsies in Breast Cancer Screening
The purpose of this study is to validate the interest of broadband spectroscopy analysis (femto/attosecond by infrared laser) on liquid biopsies in breast cancer screening.
- Conditions
- Breast Cancer Female, BRCA1 Mutation, BRCA2 Mutation
- Trial name
- ICRG0101 (NCT04273542)
- Testing
- liquid biopsy
- Where
- 9 sites in France
- Volunteers
- 1,100 people, healthy volunteers welcome
- Sponsor
- Centre Jean Perrin
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
Pancreatic Ductal Adenocarcinoma
A Registry for BRCA Mutation Carriers With Pancreatic Ductal Adenocarcinoma
The purpose of this study is to better understand why pancreatic cancer develops in some people who are known carriers of the gene mutation (an abnormality) called BRCA, or its close relative PALB2.
- Trial name
- NCT01983410
- Testing
- The risk assessment questionnaire, Blood specimens, tumor tissue samples will be requested
- Where
- 13 sites in United States, Israel
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Retinal Dystrophies, Color Vision Defects
Natural History Study of Inherited Retinal Diseases
This prospective, observational investigation seeks to delineate the interplay between chromatic vision deficits and both functional visual outcomes and anatomical retinal biomarkers in individuals affected by Inherited Retinal…
- Conditions
- Retinal Dystrophies, Color Vision Defects, Vision Disorders, Macular Degeneration
- Trial name
- MojiLVCDT (NCT07085533)
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Augelux Therapeutics
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)
Healthy, GEN1 Gene Mutation
SREBF1 Polymorphism and Egg Yolk on Cardiovascular Disease Risk in Healthy Young Adults: a Randomised, Two-period, Single Blinded, Crossover Trial
Our previous analysis showed that sterol regulatory element binding protein gene (SREBF1) rs2236513/rs2297508/rs4925119 polymorphism modulated the relation between dietary cholesterol and serum low density lipoprotein cholesterol…
- Trial name
- NCT04975048
- Testing
- Egg yolks, Macronutrients equivalent control
- Where
- China
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Shandong University
Fabry Disease
Androgenetic Alopecia in Fabry Disease
The purpose of this study is to assess whether patients with the classic form of Fabry disease have significantly less androgenic alopecia (male pattern baldness).
- Trial name
- NCT01295008
- Where
- United States
- Volunteers
- 107 people, healthy volunteers welcome
- Sponsor
- Baylor Research Institute
Mutation, Neoplasms
Utility of Plasma Circulating Tumor DNA (ctDNA) in Asymptomatic Subjects for the Detection of Neoplastic Disease
Pathway Genomics Corporation (Pathway Genomics), a San Diego, California company, is involved in the development and validation of new molecular diagnostic assays for the analysis of circulating tumor deoxyribonucleic acid (DNA)…
- Trial name
- H1000 (NCT02612350)
- Testing
- ctDNA Analysis for the Detection of Genetic Mutations
- Where
- United States
- Volunteers
- 1,106 people, healthy volunteers welcome
- Sponsor
- Pathway Genomics
Schizophrenia, Chinese Han People
Mutation Screening and Translocation Detection of DISC1 Gene in Schizophrenia
Several chromosomal loci obtained from genetic linkage studies have been reported of relating to schizophrenia. These areas include of 1q32-41, 6p24-21, 8p22-21, 15q13-14, and 22q11-12.
- Trial name
- NCT00155701
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Parkinson Disease
LRRK2 Mutation and Parkinson's Disease
The Leucine-Rich Repeat Kinase 2 (LRRK2) is implicated in autosomal dominant Parkinson's disease (PKD). An inhibitor for the leucine-rich repeat kinase 2 (LRRK2) is in pre-clinical development for potential use in treating…
- Trial name
- NCT01424475
- Testing
- Healthy, PKD Patients
- Where
- United Kingdom
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Short Stature
IGF-1 Treatment for Individuals With Short Stature Due to PAPP-A2 Deficiency
With this study we want to investigate the pharmacokinetic (PK) effect of a single injection of rhIGF-1 in patients with PAPP-A2 mutations compared to heterozygous carriers and healthy controls.
- Trial name
- NCT02636270
- Testing
- Increlex
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Malignant Hyperthermia
Gene Mutation Spectrum of Malignant Hyperthermia in China
In this study, case information and specimens of patients with malignant hyperthermia(MH) will be collected from all over China, and gene fragment analysis, sanger sequencing method and/or high-throughput whole-genome sequencing…
- Trial name
- NCT04474860
- Testing
- gene sequencing
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- West China Hospital
Congenital Central Hypoventilation Syndrome
Late-onset Congenital Central Hypoventilation Syndrome and the Mutation of Phox2B Gene
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory control characterized by ventilatory impairment that results in arterial hypoxemia.
- Trial name
- CCHS (NCT01225679)
- Testing
- positive airway pressure, Non-invasive mechanic ventilation
- Where
- Brazil
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Associação Fundo de Incentivo à Pesquisa
Education
Transition From Research to Disclosure in Human Genetics
The goal of this study is to design a means of providing research families, from diverse geographical locations, the chance to receive genetic testing after having been educated by video, and meetings or telephone conversations…
- Trial name
- NCT00505466
- Testing
- Genetic Counseling
- Where
- United States
- Volunteers
- 577 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Frontotemporal Dementia
GENetic Fronto Temporal Dementia Initiative in Lille
GENFI Lille is a French cohort that belongs to the international initiative GENFI2, a five year longitudinal biomarker cohort study of genetic FTD and its associated disorders (including MND/ALS) investigating members of families…
- Trial name
- GENFI-LILLE (NCT04639622)
- Testing
- Investigation procedures
- Where
- France
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University Hospital, Lille