Clinical trials: Mutation Abnormality
Cancer
AssesSment of Early-deteCtion basEd oN liquiD Biopsy in PANCEATIC Cancer (ASCEND-PANCREATIC)
ASCEND-PANCREATIC is a prospective, multi-omics, observational study aimed at early detecting pancreatic cancer by combined assays for biomarkers of cfDNA methylation, circulating tumor DNA (ctDNA) mutation, serum protein markers…
- Trial name
- NCT05556603
- Where
- 3 sites in China
- Volunteers
- 7,062 people, healthy volunteers welcome
- Sponsor
- Ruijin Hospital
Patients With Parkinson's Disease (PD) Caused by the p.Gly2019Ser (G2019S) Pathogenic Mutation of the Leucine-Rich Repeat Kinase 2 (LRRK2) Gene
A Natural History Study of Patients With G2019S LRRK2 Parkinson's Disease
To characterize using a participant centered decentralized (at home) study featuring wearable technology and telemedicine to study disease change over time in patients with PD caused by the G2019S mutation in the LRRK2 gene and…
- Trial name
- NCT05349019
- Testing
- Observational
- Where
- United States
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Escape Bio, Inc.
Metastatic Colorectal Cancer
FOLFOX + Panitumumab According to a "Stop and go" Strategy With a Reintroduction Loop After Progression on Fluoropyrimidine as Maintenance Treatment, as the First Line in Patients With Metastatic Colorectal Adenocarcinoma Without a RAS Mutation
Single-arm, multi-centre phase II study The primary objective is to evaluate the time to failure of the strategy.
- Trial name
- OPTIPRIME (NCT03584711)
- Testing
- FOLFOX + panitumumab
- Where
- 124 sites in France, Martinique
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- Federation Francophone de Cancerologie Digestive
BRCA1 Gene Mutation, BRCA2 Gene Mutation
Usefulness of Video-Based Intervention in Helping Participants Encourage Their Families to Get Tested for BRCA Gene Mutations
This trial studies how well a video-based intervention works in helping participants encourage their families to get tested for BRCA gene mutations.
- Trial name
- NCT05264532
- Testing
- Informational Intervention, Survey Administration
- Where
- United States
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Ohio State University Comprehensive Cancer Center
Cardiovascular Disease, Arterial Stiffness
Natural History Study of CADASIL
Background: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy) is a genetic disorder. It causes narrowing of the small blood vessels and can lead to strokes and dementia.
- Conditions
- Cardiovascular Disease, Arterial Stiffness, Germline Mutation in the NOTCH 3 Gene, Pathogenesis of CADASIL
- Trial name
- NCT05072483
- Testing
- MRI
- Where
- United States
- Volunteers
- 155 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Genetic Predisposition, BRCA Mutation
Frequency of Occult Breast Cancer After Prophylactic Mastectomy Among High-Penetrance Breast Cancer Gene Positives
The role of Sentinel Lymph Node Biopsy(SLNB) among mutation-negative BC patients is well established; however, we are lacking data to assess the role of sentinel lymph node biopsy for patients who are undergoing surgery for…
- Conditions
- Genetic Predisposition, BRCA Mutation, Breast Cancer, Occult Cancer
- Trial name
- OBC-PM (NCT05771454)
- Testing
- Histopathological confirmation
- Where
- Pakistan
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Aga Khan University Hospital, Pakistan
Colorectal Cancer, Adenomatous Polyps
Multitarget Stool FIT-DNA Study for Colorectal Cancer Early Screening in China
The primary objective is to determine the diagnostic sensitivity and specificity of the newly developed multitarget FIT-DNA Colorectal Cancer (CRC) screening test (ColoClear) for detecting advanced neoplasia (including colorectal…
- Conditions
- Colorectal Cancer, Adenomatous Polyps, Adenoma, Advanced Adenoma
- Trial name
- CLEAR-C (NCT04287335)
- Testing
- Multitarget stool FIT-DNA test - ColoClear, FIT, Colonoscopy
- Where
- 8 sites in China
- Volunteers
- 4,758 people, healthy volunteers welcome
- Sponsor
- Zhejiang University
Healthy Volunteer
Occupancy of Adenosine A2A Receptors Using the PET Radiotracer [18F]MNI-444
The overall goal of this protocol is to evaluate the binding of caffeine to adenosine A2A receptors in the brain of participants at risk for developing PD.
- Trial name
- NCT05009199
- Testing
- [18F]MNI-444
- Where
- United States
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- Invicro
MutYH-associated Polyposis
MUTYH-associated Polyposis
This is single-center, prospective, non-randomized study
- Trial name
- MAP (NCT03847532)
- Testing
- Sanger sequencing method
- Where
- Russia
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- State Scientific Centre of Coloproctology, Russian Federation
Mitochondrial DNA Mutation, Endoscopy
Multimodal Imaging Based on Pathological and Genomic Characteristics
Mitochondrial DNA mutations in normal gastric tissue, early gastric cancer and advanced gastric cancer were identified by single cell sequencing, and the origin of gastric stem cells was traced and new molecular markers were…
- Trial name
- NCT05196243
- Testing
- Patients diagnosed as gastrointestinal mucosal lesions
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Affiliated Hospital to Academy of Military Medical Sciences
Ovarian Epithelial Cancer, Carcinoma in Situ
Lavage of the Uterine Cavity for the Diagnosis of Serous Tubal Intraepithelial Carcinoma
The current study aims at answering the scientific question, whether exfoliated cells from STICs get transported into the uterine cavity via the fallopian tube, and whether it is possible to detect those cells in the lavage fluid…
- Conditions
- Ovarian Epithelial Cancer, Carcinoma in Situ, Ovarian Cancer
- Trial name
- LUSTIC (NCT02039388)
- Testing
- Lavage of the Cavum uteri and proximal Fallopian tubes, performed in the luteal phase of the female cycle
- Where
- 14 sites in Austria, Belgium and 6 more
- Volunteers
- 701 people, healthy volunteers welcome
- Sponsor
- Medical University of Vienna
Primary Myelofibrosids
JAK2V617F Mutated Endothelium Has a Stem Cell Potential in Primary Myelofibrosis: a New Disease Ontogenesis for Chronic Myeloproliferative Disorders
The present project aims to experimentally test the hypothesis that JAK2V617F mutated endothelium in primary myelofibrosis (PMF) we discovered in 2013 represents an embryonic-like hemogenic endothelium and is part of the…
- Trial name
- NCT07607392
- Where
- Italy
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
BRCA1 Mutation, BRCA2 Mutation
FaCT Trial (Facilitated Cascade Testing Trial)
The purpose of this study is to assess an intervention that incorporates engagement strategies with a medical team navigator, an educational video and accessible genetic testing services to maximize the genetic testing and…
- Trial name
- NCT04613440
- Testing
- Family Letter (Standard of Care), Educational Video, Mailed Saliva Kit for Genetic Testing
- Where
- 3 sites in United States
- Volunteers
- 524 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Genetic Disease, Nonsense Mutation
Phase 1 Study of ELX-02 in Healthy Adult Subjects
Phase 1 Multiple Ascending Dose Study in Normal Healthy Volunteers
- Trial name
- NCT03309605
- Testing
- ELX-02
- Where
- Belgium
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Mutation, Obesity
Identification and Metabolic Characterization of a Cohort of Human Subjects With Mutations in PRDM-16
Chinese male subjects will be invited to participate in a research study of brown fat, a special tissue in the body that is designed to burn energy to make heat.
- Conditions
- Mutation, Obesity, Dyslipidemia, Diabetes
- Trial name
- NCT02808715
- Testing
- Blood Sample Collection
- Volunteers
- 247 people, healthy volunteers welcome
- Sponsor
- National Heart Centre Singapore
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
Alzheimer Disease
Study of Genetic Alzheimer's Disease Mutation Carriers in Preclinical Stages of the Disease 18F-Florbetaben Positron Emission Tomography Study
The main purpose of the study is to assess safety of a single dose of FBB followed by PET scan in individuals at risk of genetic Alzheimer's disease.
- Trial name
- NCT02362880
- Testing
- Florbetaben
- Where
- Spain
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Judit Pich Martínez
Lung Cancer, EGFR Gene Mutation
EQUAL: EGFR ctDNA QUantative Assessment for Lung Cancer Screening in Asian and Latinx Populations
This research study is studying a new blood test to screen for Epidermal Growth Factor Receptor (EGFR) positive lung cancer in healthy individuals at risk for the disease and who cannot undergo regular lung cancer screening.
- Trial name
- EQUAL (NCT06716580)
- Testing
- Circulating Tumor DNA (ctDNA) Assay
- Where
- 6 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Dana-Farber Cancer Institute
Postoperative Complications, Recurrence
Surgical and Oncologic Outcomes After Robotic Nipple Sparing Mastectomy and Immediate Reconstruction
Robotic mastectomy with immediate reconstruction was introduced by Toesca et al. in 2015. Since then, several studies have reported the safety and feasibility of robotic nipple-sparing mastectomy with immediate reconstruction.
- Conditions
- Postoperative Complications, Recurrence, Breast Neoplasms, Breast Cancer
- Trial name
- SORI (NCT04108117)
- Testing
- Robotic nipple sparing mastectomy
- Where
- South Korea
- Volunteers
- 659 people, healthy volunteers welcome
- Sponsor
- Severance Hospital
Dental Caries
Study of Factors of Genetic Susceptibility Associated to Severe Caries Phenotype
Alteration of the post- eruptive enamel microstructure due to a mutation of a gene coding for a matrix protein could increase the susceptibility of the enamel to caries after tooth eruption.
- Trial name
- Cariogene (NCT00541060)
- Testing
- mutation
- Where
- France
- Volunteers
- 390 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris