Clinical trials: Mutations
Ovarian Cancer, Fallopian Tube Cancer
PARP-inhibition and CTLA-4 Blockade in BRCA-deficient Ovarian Cancer
Of the approximately 21,000 cases of ovarian cancer diagnosed annually in the U.S, ten percent are attributed to hereditary syndromes, most commonly the result of mutations in the breast cancer susceptibility genes 1 or 2 (BRCA1…
- Conditions
- Ovarian Cancer, Fallopian Tube Cancer, Peritoneal Neoplasms
- Trial name
- NCT02571725
- Testing
- Olaparib, Tremelimumab
- Where
- 5 sites in United States
- Volunteers
- 50 people
- Sponsor
- New Mexico Cancer Research Alliance
Breast Cancer, DCIS
Robotic Nipple Sparing Mastectomy with Immediate Reconstruction
Aim of this trial is to verify whether the patients' quality of life can be improved by a less invasive surgical procedure and whether the use of robotic technique for nipple-sparing mastectomy associated to prepectoral direct…
- Conditions
- Breast Cancer, DCIS, BRCA Mutation
- Trial name
- NCT06860217
- Testing
- Robotic Nipple-Sparing Mastectomy
- Where
- Italy
- Volunteers
- 24 people
- Sponsor
- European Institute of Oncology
Carcinoma, Non-small Cell Lung
Trial of Dasatinib in Patients With Advanced Cancers Harboring DDR2 Mutation or Inactivating B-RAF Mutation
The purpose of this study is to establish whether patients with malignancy harboring a discoidin domain receptor 2 mutation or an inactivating B-RAF mutation will respond to dasatinib.
- Trial name
- NCT01514864
- Testing
- Dasatinib
- Where
- 24 sites in United States, Brazil and 5 more
- Volunteers
- 19 people
- Sponsor
- Bristol-Myers Squibb
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)
Breast Cancer
Study Evaluating DNA Double-strand Breaks (DSBs) REpair Factors (POLQ, Shieldin Complex and 53BP1) Expression as Biomarker of PARP Inhibitor Resistance in Patients With Deleterious Germline Mutation in BRCA 1/2 and HER2-negative, Metastatic or Locally Advanced Breast Cancer.
The purpose of this study is to assess whether expression of not only POLQ/Polθ, but also Shieldin complex and/or 53BP1 are correlated with primary and/or acquired resistance to PARPi (Poly(ADP-Ribose) Polymerases inhibitors) in…
- Trial name
- REPARP (NCT05378204)
- Testing
- Main study:, Sub-study:
- Where
- 25 sites in France
- Volunteers
- 120 people
- Sponsor
- Institut Claudius Regaud
Carcinoma, Non-Small-Cell Lung
Efficacy and Safety Study of Afatinib to Treat Lung Cancer Patients
The purpose of this study is to examine the efficacy and safety of using afatinib (BIBW 2992) to treat non-small cell lung cancer patients considered unfit for chemotherapy and have either suspected or confirmed Epidermal Growth…
- Trial name
- TIMELY (NCT01415011)
- Testing
- Afatinib (BIBW 2992)
- Where
- 15 sites in United Kingdom
- Volunteers
- 39 people
- Sponsor
- University College, London
Amyloidosis
Identification of Clinically Significant Markers of ATTRv in Pre-symptomatic Mutation Carriers.
The objective of this prospective observational study is to periodically monitor pre-symptomatic subjects carrying a mutation of Transthyretin (TTR), identified in the context of a family screening of affected proband, through…
- Trial name
- NCT05754099
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Parkinson Disease, Idiopathic Parkinson Disease
Study to Determine Mutations in the Gaucher Gene in Patients With Idiopathic Parkinson's Disease for Phenotype-genotype Correlation
The genotype-phenotype correlation in patients with Parkinson's disease with specific mutations in the glucocerebrosidase gene (Gaucher gene) is known from own clinical experiences as well as from case reports in the literature.
- Trial name
- PadGau (NCT01272687)
- Where
- 15 sites in Germany, Thailand
- Volunteers
- 1,500 people
- Sponsor
- CENTOGENE GmbH Rostock
Non-small Cell Lung Cancer (NSCLC), Colorectal Cancer (CRC)
Study of LT-010391 in Participants With KRAS G12D-Mutant Solid Tumors
This study is to evaluate the safety and tolerability of of LT-010391 as monotherapy in participants with KRAS G12D mutant advanced solid tumors
- Conditions
- Non-small Cell Lung Cancer (NSCLC), Colorectal Cancer (CRC), Pancreatic Ductal Adenocarcinoma (PDAC), Advanced Solid Tumors
- Trial name
- NCT07624214
- Testing
- LT-010391
- Where
- China
- Volunteers
- 198 people
- Sponsor
- Leadingtac Pharmaceutical (Shaoxing) Co., Ltd.
Mitochondrial Myopathies
Effect and Safety MABs Administration m.3243A>G Mutation Carriers
The first primary objective is to assess the effect of three intra-arterial administrations of autologous mesoangioblasts (MABs) with respect to improving muscle strength and reduce fatigue of the treated biceps brachii (BB)…
- Trial name
- NCT05962333
- Testing
- Intra-arterial delivery of autologous MABs
- Where
- Netherlands
- Volunteers
- 20 people
- Sponsor
- Maastricht University
Advanced Malignant Solid Neoplasm, RAS Mutation
A Trial of RSC-1255 for Treatment of Patients With Advanced Malignancies
RSC-101 is a Phase 1a/1b clinical trial of RSC-1255 in adult study participants with advanced solid tumor malignancies who are intolerant of existing therapies known to provide clinical benefit, have disease that has progressed…
- Conditions
- Advanced Malignant Solid Neoplasm, RAS Mutation, Lung Cancer, Colon Cancer
- Trial name
- NCT04678648
- Testing
- RSC-1255 Dose Escalation, RSC-1255 Dose Expansion
- Where
- 3 sites in United States
- Volunteers
- 134 people
- Sponsor
- RasCal Therapeutics, Inc.
Astrocytoma, Glioblastoma
Detecting Malignant Brain Tumor Cells in the Bloodstream During Surgery to Remove the Tumor
Glioblastomas, the most frequent malignant brain tumor in adults, are widespread in the brain, despite their discrete appearance on computed tomography (CT) or magnetic resonance imaging (MRI).
- Conditions
- Astrocytoma, Glioblastoma, Glioma
- Trial name
- NCT00001148
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Leber Congenital Amaurosis, Leber Congenital Amaurosis (LCA)
Safety and Tolerability of Subretinal OPGx-RDH12-1001 for LCA-Associated Inherited Retinal Degeneration (LCA-IRD)
This study is an early-stage clinical trial (Phase 1b/2a) testing a gene therapy called OPGx-RDH12 for people with Leber Congenital Amaurosis (LCA) caused by mutations in the RDH12 gene, a rare genetic eye disease that leads to…
- Trial name
- RDH12 (NCT07681778)
- Testing
- OPGx-RDH12
- Where
- 4 sites in United States
- Volunteers
- 10 people
- Sponsor
- Opus Genetics, Inc
NSCLC (Advanced Non-small Cell Lung Cancer), EGFR Mutation Positive Advanced Non Small Cell Lung Cancer
ORIENT-31 Regimen in Combination With SBRT for EGFR-mutant Metastatic NSCLC After First-line Third-generation EGFR-TKIs
The goal of this prospective study is to explore the safety and preliminary efficacy of stereotactic body radiotherapy (SBRT) combined with ORIENT-31 regimen (Sintilimab plus bevacizumab plus platinum-doublet chemotherapy) for…
- Trial name
- NCT06775743
- Testing
- ORIENT-31 regimen, SBRT
- Where
- China
- Volunteers
- 53 people
- Sponsor
- Fudan University
Aplasia Cutis Congenita
Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
The goal of this research study is to identify genes and regulatory elements on chromosomes that cause ACC. The investigators also study tissue samples from patients to learn about the processes that lead to this disorder.
- Trial name
- ACC (NCT01630421)
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- UConn Health
Epidermal Growth Factor Receptor (EGFR) Mutations, Solid Tumors
A Study to Investigate the Absorption, Metabolism and Excretion of [14C]ASP8273 in Subjects With Solid Tumors
This is a study to investigate the absorption, metabolism and excretion of [14C] labeled ASP8273 in subjects with solid tumors harboring EGFR mutations (per local testing). This study consists of two parts (A and B).
- Trial name
- NCT02674555
- Testing
- radio-labeled naquotinib, naquotinib
- Sponsor
- Astellas Pharma Global Development, Inc.
Advanced Solid Tumors, Breast Cancer Recurrent
First-in-Human Study of ATX-559, an Oral Inhibitor of DHX9, in Patients With Advanced or Metastatic Solid Tumors, and Molecularly Defined Cancers
The goal of this study is to identify a safe and tolerated dose of the orally administered DHX9 inhibitor ATX-559. In addition, this study will evaluate the pharmacokinetics, pharmacodynamics and preliminary antitumor activity of…
- Conditions
- Advanced Solid Tumors, Breast Cancer Recurrent, Colorectal Cancer Metastatic, Colon Cancer
- Trial name
- NCT06625515
- Testing
- ATX-559
- Where
- 5 sites in United States
- Volunteers
- 17 people
- Sponsor
- Accent Therapeutics
Cystic Fibrosis
A Study Evaluating Efficacy and Safety of Elexacaftor/Tezacaftor/Ivacaftor in Subjects 6 Through 11 Years of Age With Cystic Fibrosis and F/MF Genotypes
This study will evaluate the efficacy and safety of elexacaftor (ELX) / tezacaftor (TEZ) / ivacaftor (IVA) triple combination (TC) in subjects 6 through 11 years of age with cystic fibrosis (CF) who are heterozygous for F508del…
- Trial name
- NCT04353817
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 34 sites in Australia, Canada and 8 more
- Volunteers
- 121 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cystic Fibrosis
PTC124 for Cystic Fibrosis
In some patients with cystic fibrosis (CF), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the cystic fibrosis transmembrane regulator (CFTR) protein.
- Trial name
- NCT00234663
- Testing
- PTC124
- Where
- 5 sites in United States
- Volunteers
- 24 people
- Sponsor
- PTC Therapeutics
Retinitis Pigmentosa, Eye Diseases
Rate of Progression in EYS Related Retinal Degeneration
The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with EYS mutations in order to accelerate the development of outcome measures…
- Trial name
- Pro-EYS (NCT04127006)
- Where
- 19 sites in United States, Canada and 5 more
- Volunteers
- 103 people
- Sponsor
- Jaeb Center for Health Research