Clinical trials: Cancer Gene Mutation, open to volunteers
Predictive Cancer Model
Innovative Approach to Detect Recurrent Colorectal Lesions With Surveillance Via Mutation Analysis & Clinical Phenotype
It is known that the development of colorectal adenoma is dependent on the appearance of somatic mutations in protooncogenes and tumor suppressor genes.
- Trial name
- MTG (NCT05929365)
- Testing
- colonoscopy
- Where
- Czechia
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Military University Hospital, Prague
Lynch Syndrome, Li Fraumeni Syndrome
Video Capsule Examination in Patients With Lynch Syndrome
Surveillance for colorectal cancer (CRC) in patients predisposed to develop CRC during their lifetime has been impacted by access to colonoscopy suites and endoscopy specialists in the past couple of years.
- Conditions
- Lynch Syndrome, Li Fraumeni Syndrome, PTEN Hamartoma Syndrome, FAP
- Trial name
- PILLCAM (NCT06712095)
- Testing
- Video capsule investigation
- Where
- United Kingdom
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
Gene Mutation-Related Cancer, Genetic Predisposition
Genetic Information Assistant in Telegenetics
The goal of this clinical trial is to learn about different ways cancer genetic screening can be provided to rural communities in participants at high risk for certain cancers.
- Trial name
- NCT06089421
- Testing
- Genetic Information Assistant, Telegenetics with UVA genetic counselor
- Where
- United States
- Volunteers
- 96 people, healthy volunteers welcome
- Sponsor
- University of Virginia
RAS Mutation, Neurofibromatosis 1
RASopathy Biorepository
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently.
- Conditions
- RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines
- Trial name
- NCT04395495
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Breast Cancer, Hereditary Breast and Ovarian Cancer
Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry
PROGECT is a registry for patients with Triple Negative breast cancer (TNBC) or patients who have an identified germline mutations (such as a mutation on the BRCA1 or BRCA2 genes).
- Trial name
- PROGECT (NCT02302742)
- Where
- 11 sites in United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Kansas Medical Center
Breast Cancers, Ovarian Cancers
Genetic Predisposition to Breast and Ovarian Cancer: Prospective Study of BRCAx Gene Mutation
Cohort of subjects carrying a BRCA gene mutation: genetic predispositions to breast and ovarian cancers
- Trial name
- GENEPSO (NCT03667417)
- Testing
- Questionnaires
- Where
- France
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Institut Paoli-Calmettes
Myeloproliferative Neoplasm
Evaluation of the Pathobiology of CALR-mutated MPN Cells
The purpose of this study is to understand why there is a greater risk of thrombosis in patients who have the JAK2 mutation as compared to those with CALR mutations.
- Trial name
- NCT06480591
- Testing
- Blood Draw
- Where
- 2 sites in United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Pleuropulmonary Blastoma, Cystic Nephroma
DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study
Background: Pleuropulmonary blastoma (PPB) is a rare fast-growing lung tumor that is associated with other, rare tumor types. Most cases of PPB appear in children younger than 6 years of age.
- Conditions
- Pleuropulmonary Blastoma, Cystic Nephroma, Ovarian Sertoli-Leydig Cell Tumors, Ocular Medulloepithelioma
- Trial name
- NCT01247597
- Where
- 2 sites in United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Prostate Cancer, Familial Prostate Cancer
Prostate Cancer Prevention Clinic for Men With Risk of Familial Prostate Cancer
Secondary prevention of prostate cancer (PCa) is not standardized and high-risk groups at the time of diagnosis are not well defined.
- Trial name
- ProFam-Risk (NCT05681416)
- Testing
- Panel sequencing, whole exome sequencing, whole genome sequencing
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Heinrich-Heine University, Duesseldorf
Breast Cancer Risk, Ovarian Cancer Risk
Population Based Germline Testing for Early Detection and Prevention of Cancer
PROTECT-C is a research study offering genetic testing to people to see whether they have a genetic change that increases their risk of breast, ovary, bowel, and/or womb cancer.
- Conditions
- Breast Cancer Risk, Ovarian Cancer Risk, Cancer Gene Mutation
- Trial name
- PROTECT-C (NCT07498829)
- Testing
- Genetic testing for Cancer Susceptibility Genes (CSGs) (BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2, MLH1, MSH2, MSH6) and personalised breast and ovarian cancer risk
- Where
- United Kingdom
- Volunteers
- 6,000 people, healthy volunteers welcome
- Sponsor
- Queen Mary University of London
Cancer, Circulating Tumor DNA Detection
Detection Technology of Peripheral Blood ctDNA Based on CRISPR/Cas and Gold Nanoparticles
This study tests a new, fast blood test that may help detect very small traces of tumor DNA in the bloodstream. When tumor cells die, they release small pieces of DNA called circulating tumor DNA (ctDNA) into the blood.
- Trial name
- NCT07916636
- Where
- China
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- The First Affiliated Hospital of Zhengzhou University
Colorectal Cancer, Adenoma Colon
Liquid Biopsy and Machine Learning for Early Colorectal Cancer, Adenomas, Lynch Cancers, and Residual Disease Detection
This is an multicenter study that will test the diagnostic accuracy of a blood test (i.e., a liquid biopsy) for the diagnosis of colorectal cancer (CRC), advanced adenomas (AAs), as well as Lynch-syndrome associated cancers.
- Conditions
- Colorectal Cancer, Adenoma Colon, Adenoma Colon Polyp, Colon Adenoma
- Trial name
- BEACON (NCT07450612)
- Testing
- BEACON
- Where
- 4 sites in Italy
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- San Raffaele University
Endometrial Cancer, Lynch Syndrome
Menstrual Cup for Early Endometrial Cancer Detection in Lynch Syndrome
Study Goal: This pilot study wants to find out if using a menstrual cup can be a good, non-invasive way to collect samples from the lining of the uterus (called the endometrium) to help screen for endometrial cancer.
- Conditions
- Endometrial Cancer, Lynch Syndrome, Screening, Early Detection of Cancer
- Trial name
- SCREEN-CUP (NCT07220239)
- Testing
- Menstrual cup use
- Where
- United States
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Jessica D. St. Laurent, MD
Myelodysplastic Syndromes
Comprehensive Molecular and Clinical Evaluation of Pediatric and Adult MDS
Background: Myelodysplastic syndromes (MDS) occur when the cells that make blood cells are abnormal. There are limited treatment options for MDS.
- Trial name
- NCT05350748
- Where
- United States
- Volunteers
- 1,100 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
DDX41 Gene Mutation
Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.
This is a multicenter, interventional, historico-prospective cohort pilot study aimed at specifying the phenotype of subjects carrying a constitutional familial DDX41 mutation, with a view to eventually publishing oncogenetic…
- Trial name
- LUCID (NCT06022016)
- Testing
- For each person (index case or related) included in this study:
- Where
- 5 sites in France
- Volunteers
- 910 people, healthy volunteers welcome
- Sponsor
- Institut Claudius Regaud
Li-Fraumeni Syndrome, Li-Fraumeni-Like Syndrome
Li-Fraumeni Syndrome/TP53 Biobank
Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome are cancer predisposition syndromes due to germline aberrations in the TP53 gene.
- Trial name
- NCT04367246
- Testing
- No Intervention
- Where
- 2 sites in United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
GATA2 Gene Mutation
Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation
This trial is a translational, open-label, multi-site, retrospective and prospective cohort study of 250 patients aiming to characterize predictive parameters of clonal evolution in a population of subjects carrying the germline…
- Trial name
- GATA-2 (NCT05983991)
- Testing
- Biological samples (blood and bone marrow samples).
- Where
- 24 sites in France
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Institut Claudius Regaud
Breast Cancer
A Multi-Modality Surveillance Program for Women at High Risk for Breast Cancer
This study is aimed to establish a registry of women undergoing intensive surveillance for the early detection of breast cancer in high-risk women.
- Trial name
- CAPS (NCT03729115)
- Testing
- Magnetic Resonance Imaging (MRI)
- Where
- 3 sites in United States
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- University of Chicago
Lung Adenocarcinoma
Osimertinib to Suppress the Progression of Remaining GGN for EGFR Mutation-positive Stage IB-IIIA Lung Adenocarcinoma
This is an open label, phase II study to assess the efficacy of osimertinib (80 mg, orally, once daily) to suppress the progression of remaining GGN(s) in other lobes following surgical resection for actionable EGFR…
- Trial name
- NCT05528458
- Testing
- Osimertinib 80Mg Tab
- Where
- South Korea
- Volunteers
- 59 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Lynch Syndrome, Lynch Syndrome I
Videocapsule Endoscopy in Lynch Syndrome
Background Lynch syndrome is caused by a pathogenic variant in one of the four Mismatch Repair genes (MMR): MLH1, MSH2/Epcam, MSH6, or PMS2.
- Conditions
- Lynch Syndrome, Lynch Syndrome I, Lynch Syndrome II, MLH1 Gene Mutation
- Trial name
- NCT05704010
- Testing
- Video capsule endoscopy
- Where
- Italy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- San Raffaele University