Clinical trials: Germline Mutation Abnormality
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
Pheochromocytoma, Paraganglioma
Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma
Background: Most treatments for malignant pheochromocytomas/paragangliomas (PHEO/PGL) are palliative and multidisciplinary. Chemotherapy using the combination of cyclophosphamide, vincristine, and dacarbazine has been…
- Trial name
- NCT01967576
- Testing
- Axitinib (AG-013736)
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- National Cancer Institute (NCI)
Breast Cancer Metastatic, BRCA 1 Gene Mutation
A Phase II Study to Assess the Efficacy and Safety of SC10914 in the Metastatic Breast Cancer Patients
This open label, multi-centre phase II study will assess the efficacy and safety of single agent SC10914 in metastatic breast cancer patients with gBRCA 1/2 mutations.
- Conditions
- Breast Cancer Metastatic, BRCA 1 Gene Mutation, BRCA 2 Gene Mutation
- Trial name
- NCT04556292
- Testing
- SC10914
- Where
- China
- Volunteers
- 78 people
- Sponsor
- Jiangxi Qingfeng Pharmaceutical Co. Ltd.
Choroidal Nevi, Uveal Melanoma
BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma
The BAP1 trial will examine the blood of patients diagnosed with choroidal nevi or uveal melanoma for a germline BAP1 mutation and other genetic markers associated with developing malignancy as well as additional sequencing of…
- Trial name
- NCT01925599
- Where
- 3 sites in United States
- Volunteers
- 133 people
- Sponsor
- Amy C Schefler, MD
Germline Mutation in the NOTCH 3 Gene, Cardiovascular Disease
CADASIL Disease Discovery
Cerebral autosomal dominant arteriopathy with subcortical infarct (CADASIL) is a lethal disease caused by a gene mutation that affects arteries in the brain. Symptoms include migraines, strokes, memory loss, and dementia.
- Conditions
- Germline Mutation in the NOTCH 3 Gene, Cardiovascular Disease, Arterial Stiffness, Pathogenesis of CADASIL
- Trial name
- NCT02821780
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Ovarian Cancer, Fallopian Tube Cancer
A Study of Oral Rucaparib in Patients With a Solid Tumor (Phase I) or With gBRCA Mutation Ovarian Cancer (Phase II)
Part 1 (Completed Enrollment) - The purpose of the first part of the study was to evaluate the safety of different doses and dosing regimens of oral rucaparib administered daily to patients with solid tumors.
- Conditions
- Ovarian Cancer, Fallopian Tube Cancer, Peritoneal Cancer, Advanced Solid Tumor With Evidence of Germline or Somatic BRCA
- Trial name
- NCT01482715
- Testing
- Rucaparib
- Where
- 16 sites in United States, Canada and 3 more
- Volunteers
- 136 people
- Sponsor
- pharmaand GmbH
Triple Negative Breast Neoplasms, Triple Negative Breast Cancer
Novel Neoadjuvant and Adjuvant Strategy for Germline BRCA 1/2 Mutated Triple Negative Breast Cancer
This is a Phase II, single-arm, open label study to evaluate Olaparib plus Pembrolizumab following platinum-based chemotherapy plus Pembrolizumab as neoadjuvant therapy for germline BRCA (gBRCA) 1/2 mutated triple negative breast…
- Conditions
- Triple Negative Breast Neoplasms, Triple Negative Breast Cancer, Breast Neoplasms, Breast Cancer
- Trial name
- NCT05485766
- Testing
- Pembrolizumab, Paclitaxel, Carboplatin
- Where
- 3 sites in Japan
- Volunteers
- 23 people
- Sponsor
- Okayama University
Lung Cancer
INHERIT EGFR - Studying Germline EGFR Mutations
Lung cancer is a common malignancy that is associated with cigarette smoking but can also affect individuals who never smoked. It is not well understood whether there are hereditary risk factors that influence the risk of lung…
- Trial name
- INHERIT (NCT01754025)
- Where
- 2 sites in United States
- Volunteers
- 121 people
- Sponsor
- Dana-Farber Cancer Institute
Recurrent, Epithelial Ovarian Cancer
Veliparib Monotherapy for Relapsed Ovarian Cancer With BRCA Mutation
The main purpose of this study is to investigate the effect of veliparib in ovarian cancer patients with known BRCA 1/2 mutations who do no longer respond to conventional chemotherapy.
- Trial name
- Veli-BRCA (NCT01472783)
- Testing
- Veliparib
- Where
- Denmark
- Volunteers
- 49 people
- Sponsor
- Vejle Hospital
Breast Neoplasms, BRCA 1 Gene Mutation
A Study Evaluating Talazoparib (BMN 673), a PARP Inhibitor, in Advanced and/or Metastatic Breast Cancer Patients With BRCA Mutation (EMBRACA Study)
The purpose of this open-label, 2:1 randomized phase III trial is to compare the safety and efficacy of talazoparib (also known as BMN 673) versus protocol-specific physician's choice in patients who have locally advanced and/or…
- Conditions
- Breast Neoplasms, BRCA 1 Gene Mutation, BRCA 2 Gene Mutation
- Trial name
- EMBRACA (NCT01945775)
- Testing
- talazoparib, Physician's-Choice
- Where
- 362 sites in United States, Australia and 14 more
- Volunteers
- 431 people
- Sponsor
- Pfizer
Von Hippel-Lindaus Disease
Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease?
The investigators aim to analyze tumors from vHL patients who have different courses of disease and different types of VHL gene alterations to characterize which types of genetic alterations the tumors contain and how these…
- Trial name
- NCT02207686
- Where
- Denmark
- Volunteers
- 50 people
- Sponsor
- Marie Luise Bisgaard, MD
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)
Breast Cancer, Triple Negative Breast Neoplasms
Assessing the Efficacy of Paclitaxel and Olaparib in Comparison to Paclitaxel / Carboplatin Followed by Epirubicin/Cyclophosphamide as Neoadjuvant Chemotherapy in Patients With HER2-negative Early Breast Cancer and Homologous Recombination Deficiency
This is a multicenter, prospective, randomized, open-label phase II study evaluating the efficacy and safety of PO→EC as neoadjuvant treatment of operable and locally advanced breast cancer in patients with HR deficiency.
- Conditions
- Breast Cancer, Triple Negative Breast Neoplasms, HRpos Breast Neoplasms, BRCA 1 /2 and / or HRD
- Trial name
- GeparOla (NCT02789332)
- Testing
- PwO, PwCb, EC
- Where
- 12 sites in Germany
- Volunteers
- 107 people
- Sponsor
- GBG Forschungs GmbH