Clinical trials: Germline Mutation Abnormality
Retinoblastoma, Melanoma
Retinoblastoma Biomarker Study
Retinoblastoma is a rare pediatric ocular tumor caused by germline and/or somatic mutations in the tumor suppressor gene RB1. Survivors of retinoblastoma, particularly those with the hereditary form of the disease (germline RB1…
- Conditions
- Retinoblastoma, Melanoma, Sarcoma
- Trial name
- NCT00342797
- Where
- 4 sites in United States
- Volunteers
- 2,136 people
- Sponsor
- National Cancer Institute (NCI)
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
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
Advanced or Metastatic Solid Tumors Irrespective of Gene Alterations, Advanced or Metastatic Solid Tumors With Germline PTEN Inactivating Mutations
TAS-117 in Patients With Advanced Solid Tumors Harboring Germline PTEN Mutations
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and antitumor activity of TAS-117 in patients with advanced or metastatic solid tumors (excluding primary brain tumors)…
- Trial name
- NCT04770246
- Testing
- TAS-117
- Where
- 8 sites in United States, Austria and 2 more
- Volunteers
- 17 people
- Sponsor
- Taiho Oncology, Inc.
Lynch Syndrome
Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Patients Meeting Chinese Lynch Syndrome Criteria
The purpose of this study is to find out the proportion of patients diagnosed with Lynch syndrome in colorectal cacner patients meeting Chinese Lynch syndrome criteria.
- Trial name
- NCT03046849
- Testing
- next-generation sequencing
- Where
- 3 sites in China
- Volunteers
- 100 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Cowden's Disease, Cowden's Syndrome
Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations
The goal of this study is to examine the safety and treatment effects of everolimus in adults and children with PTEN Hamartoma Tumor Syndrome (PHTS) who experience social difficulties.
- Conditions
- Cowden's Disease, Cowden's Syndrome, Lhermitte-Duclos Disease, Cerebellum Dysplastic Gangliocytoma
- Trial name
- NCT07218575
- Testing
- Everolimus blinded oral capsules
- Where
- 3 sites in United States
- Volunteers
- 60 people
- Sponsor
- Boston Children's Hospital
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)
Cancer Gene Mutation, Lynch Syndrome
Lynch Syndrome Can be Diagnosed Just From Somatic Mismatch Repair Mutation
The objective of the study is the provide proof of high correlation between somatic and germline mismatch repair instability. This correlation is specifically researched in an area where patients have less access to cancer…
- Conditions
- Cancer Gene Mutation, Lynch Syndrome, Endometrial Cancer, Somatic Mutation
- Trial name
- NCT04516083
- Testing
- Mismatch repair instability somatic and germline testing
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- RWJ Barnabas Health at Jersey City Medical Center
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
Bone Marrow Failure Syndrome, Congenital Amegakaryocytic Thrombocytopenia
Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
This phase II trial tests whether treosulfan, fludarabine, and rabbit antithymocyte globulin (rATG) work when given before a blood or bone marrow transplant (conditioning regimen) to cause fewer complications for patients with…
- Conditions
- Bone Marrow Failure Syndrome, Congenital Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Hereditary Sideroblastic Anemia
- Trial name
- NCT04965597
- Testing
- Treosulfan, Fludarabine Phosphate, Tacrolimus
- Where
- 24 sites in United States
- Volunteers
- 40 people
- Sponsor
- Fred Hutchinson Cancer Center
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
Germline Mutation, Myelodysplastic Syndromes
Study of Individuals and Families With Aberrations in DDX41 or Similar Cancer Predisposition Variants
Background: Hereditary hematopoietic malignancy (HHM) syndromes are a group of inherited disorders that raises the risk of blood cancers.
- Conditions
- Germline Mutation, Myelodysplastic Syndromes, Acute Myeloid Leukemia
- Trial name
- NCT07019155
- Where
- United States
- Volunteers
- 510 people
- Sponsor
- National Cancer Institute (NCI)
Stomach Neoplasms, Stomach Cancer
Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer
Background: Gastric cancers are cancers of the stomach. Hereditary ones are passed from parent to child. Researchers want to gather data about hereditary gastric cancers.
- Conditions
- Stomach Neoplasms, Stomach Cancer, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS), Hereditary Diffuse Gastric Cancer (HDGC)
- Trial name
- NCT03030404
- Where
- United States
- Volunteers
- 733 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations
The goal of this study is to examine the safety and treatment effects of sirolimus for targeting social communication deficits in people with genetic disorders associated with PTEN germline mutations, which are often referred to…
- Conditions
- PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome, PTEN Hamartoma Syndrome
- Trial name
- NCT06080165
- Testing
- Sirolimus
- Where
- 3 sites in United States
- Sponsor
- Stanford University