Clinical trials: Gene Mutations
Retinitis Pigmentosa, Usher Syndrome Type 2
An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
PQ-421a-002 (Helia) is an open-label, extension study to evaluate the safety, tolerability and efficacy of QR 421a (ultevursen) administered via intravitreal (IVT) injection in one or both eyes, in subjects ≥ 12 years of age with…
- Trial name
- HELIA (NCT05085964)
- Testing
- RNA antisense oligonucleotide for intravitreal injection
- Where
- 7 sites in United States, Canada and 1 more
- Volunteers
- 21 people
- Sponsor
- Laboratoires Thea
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Testing Trametinib as a Potential Targeted Treatment in Cancers With BRAF Genetic Changes (MATCH-Subprotocol R)
This phase II MATCH treatment trial identifies the effects of trametinib in patients with cancer having genetic changes called BRAF mutations and fusions.
- Conditions
- Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Hematopoietic and Lymphoid Cell Neoplasm, Refractory Lymphoma
- Trial name
- NCT04439279
- Testing
- Trametinib Dimethyl Sulfoxide
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- National Cancer Institute (NCI)
Breast Cancer
Real-World Outcomes of US Talazoparib-Treated Patients With Locally Advanced or Metastatic Breast Cancer
This study is a retrospective, multi-site, patient-level medical chart review of US adult patients with locally advanced or metastatic breast cancer (ABC) who initiated talazoparib on or after October 16, 2018 and were managed by…
- Trial name
- NCT04987931
- Testing
- Talazoparib
- Where
- United States
- Volunteers
- 84 people
- Sponsor
- Pfizer
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Testing Trametinib and Dabrafenib as a Potential Targeted Treatment in Cancers With BRAF Genetic Changes (MATCH-Subprotocol H)
This phase II MATCH treatment trial identifies the effects of trametinib and dabrafenib in patients whose cancer has genetic changes called BRAF V600 mutations.
- Conditions
- Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Hematopoietic and Lymphoid Cell Neoplasm, Refractory Lymphoma
- Trial name
- NCT04439292
- Testing
- Dabrafenib Mesylate, Trametinib Dimethyl Sulfoxide
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- National Cancer Institute (NCI)
Breast Cancer, Metastatic Breast Cancer
ABT-888 and Temozolomide for Metastatic Breast Cancer and BRCA1/2 Breast Cancer
The purpose of this research study is to find out if the combination of ABT-888 and temozolomide is safe and effective in treating patients with metastatic breast cancer.
- Conditions
- Breast Cancer, Metastatic Breast Cancer, BRCA1 Gene Mutation, brca2 Gene Mutation
- Trial name
- NCT01009788
- Testing
- ABT-888, temozolomide
- Where
- 3 sites in United States
- Volunteers
- 63 people
- Sponsor
- Steven J Isakoff, MD, PhD
Solid Tumors Harboring Somatic HER2 or EGFR Exon 18 Mutations
Basket Study of Neratinib in Participants With Solid Tumors Harboring Somatic HER2 or EGFR Exon 18 Mutations
This is an open-label, multicenter, multinational, Phase 2 basket study exploring the efficacy and safety of neratinib as monotherapy or in combination with other therapies in participants with HER (EGFR, HER2) mutation-positive…
- Trial name
- SUMMIT (NCT01953926)
- Testing
- Neratinib, Fulvestrant, Trastuzumab
- Where
- 60 sites in United States, Australia and 11 more
- Volunteers
- 582 people
- Sponsor
- Puma Biotechnology, Inc.
Carcinoma, Non-Small-Cell Lung, ErbB Receptors
Afatinib in EGFR+NSCLC (Recurrent or Stage IV) - Patients With Poor Performance Status (ECOG 2 or 3)
There is a medical need for improving treatment of poor performance status patients with EGFR driver mutations and documenting safety and tolerability of existing agents.
- Trial name
- NCT02695290
- Testing
- Afatinib
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Boehringer Ingelheim
Solid Tumor, Breast Tumor
Niraparib in the Treatment of Patients With Advanced PALB2 Mutated Tumors
The purpose of this study is to further evaluate the efficacy and safety of niraparib in patients with locally advanced or metastatic solid tumors and a pathogenic or likely pathogenic tumor PALB2 (tPALB2) mutation.
- Conditions
- Solid Tumor, Breast Tumor, Colon Tumor, Malignant, Lung Tumor
- Trial name
- PAVO (NCT05169437)
- Testing
- Niraparib
- Where
- 80 sites in United States
- Volunteers
- 22 people
- Sponsor
- Tempus AI
BRAF V600E Negative, KRAS Gene Mutation Negative
Regorafenib, With Cetuximab or Panitumumab, for the Treatment of Unresectable, Locally Advanced, or Metastatic Colorectal Cancer
This phase II trial how well regorafenib and anti-EGFR therapy (cetuximab or panitumumab) works for the treatment of patients with colorectal cancer that cannot be removed by surgery (unresectable), has spread to nearby tissue or…
- Conditions
- BRAF V600E Negative, KRAS Gene Mutation Negative, Locally Advanced Unresectable Colorectal Adenocarcinoma, Metastatic Colorectal Adenocarcinoma
- Trial name
- NCT04117945
- Testing
- Cetuximab, Irinotecan, Panitumumab
- Where
- 15 sites in United States
- Volunteers
- 22 people
- Sponsor
- Academic and Community Cancer Research United
Short Stature
IGF-1 Treatment for Individuals With Short Stature Due to PAPP-A2 Deficiency
With this study we want to investigate the pharmacokinetic (PK) effect of a single injection of rhIGF-1 in patients with PAPP-A2 mutations compared to heterozygous carriers and healthy controls.
- Trial name
- NCT02636270
- Testing
- Increlex
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Non-small Cell Lung Cancer
Phase I/II of Oral Vorinostat Combination With Erlotinib in NSCLC Patients With EGFR Mutations With DP After Erlotinib.
This is an open label, non-randomized, sequential, phase I/II trial in patients with stage IIIB or IV non-small cell lung cancer (NSCLC) with EGFR mutations after progression to Erlotinib. The study will have two parts.
- Trial name
- NCT00503971
- Testing
- Vorinostat plus Erlotinib
- Where
- 8 sites in Spain
- Volunteers
- 33 people
- Sponsor
- Spanish Lung Cancer Group
Tumors With CDK4/6 Pathway Activation
LEE011 for Patients With CDK4/6 Pathway Activated Tumors (SIGNATURE)
The purpose of this signal seeking study was to determine whether treatment with LEE011 demonstrates sufficient efficacy in CDK4/6 pathway activated solid tumors and/or hematologic malignancies to warrant further study.
- Trial name
- SIGNATURE (NCT02187783)
- Testing
- LEE011
- Where
- 61 sites in United States
- Volunteers
- 106 people
- Sponsor
- Novartis Pharmaceuticals
Anaplastic Astrocytoma, Glioblastoma
Veliparib, Radiation Therapy, and Temozolomide in Treating Patients With Newly Diagnosed Malignant Glioma Without H3 K27M or BRAFV600 Mutations
This phase II trial studies how well veliparib, radiation therapy, and temozolomide work in treating patients with newly diagnosed malignant glioma without H3 K27M or BRAFV600 mutations.
- Conditions
- Anaplastic Astrocytoma, Glioblastoma, Malignant Glioma
- Trial name
- NCT03581292
- Testing
- Radiation Therapy, Temozolomide, Veliparib
- Where
- 163 sites in United States, Australia and 3 more
- Volunteers
- 38 people
- Sponsor
- Children's Oncology Group
Metastatic Castration Resistant Prostate Cancer, Metastatic Cancer
Immunotherapy in Patients With Metastatic Cancers and CDK12 Mutations
This study will attempt to determine the efficacy of checkpoint inhibitor immunotherapy with nivolumab and ipilimumab combination therapy followed by nivolumab monotherapy in patients with metastatic prostate cancer and other…
- Conditions
- Metastatic Castration Resistant Prostate Cancer, Metastatic Cancer, Solid Tumor
- Trial name
- IMPACT (NCT03570619)
- Testing
- Nivolumab, Ipilimumab
- Where
- 8 sites in United States
- Volunteers
- 56 people
- Sponsor
- University of Michigan Rogel Cancer Center
Non-Small Cell Lung Cancer
A Study of Erlotinib in Participants With Locally Advanced or Metastatic Non-Small Cell Lung Cancer
This open-label, multi-center study will evaluate the progression-free survival and safety of erlotinib in participants with locally advanced or metastatic non-small cell lung cancer with activating mutations in the tyrosine…
- Trial name
- ESSENCE (NCT01667562)
- Testing
- Erlotinib
- Where
- 4 sites in Serbia
- Volunteers
- 375 people
- Sponsor
- Hoffmann-La Roche
Cystic Fibrosis
Study to Evaluate the Safety and Efficacy of CTP-656 in Patients With Cystic Fibrosis With CFTR Gating Mutations
This study will evaluate the efficacy and safety of CTP-656 in patients with cystic fibrosis (CF) who have a cystic fibrosis transmembrane conductance regulator (CFTR) gating mutation.
- Trial name
- NCT02971839
- Testing
- VX-561, IVA
- Where
- 14 sites in United States
- Volunteers
- 11 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
EGFR Activating Mutation, Recurrent Non-Small Cell Lung Carcinoma
Targeted Therapy in Treating Patients With Incurable Non-Small Cell Lung Cancer With Genetic Mutations
This phase II trial studies how well targeted therapy works in treating patients with incurable non-small cell lung cancer with a genetic mutation.
- Conditions
- EGFR Activating Mutation, Recurrent Non-Small Cell Lung Carcinoma, Stage IV Non-Small Cell Lung Cancer
- Trial name
- NCT02949843
- Testing
- Chemotherapy, Immunotherapy, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- Wake Forest University Health Sciences
RET-altered Non Small Cell Lung Cancer, Medullary Thyroid Cancer
Phase 1/2 Study of the Highly-selective RET Inhibitor, Pralsetinib (BLU-667), in Participants With Thyroid Cancer, Non-Small Cell Lung Cancer, and Other Advanced Solid Tumors
This is a Phase 1/2, open-label, first-in-human (FIH) study designed to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD), and preliminary antineoplastic activity of pralsetinib (BLU-667)…
- Conditions
- RET-altered Non Small Cell Lung Cancer, Medullary Thyroid Cancer, RET-altered Papillary Thyroid Cancer, RET-altered Colon Cancer
- Trial name
- ARROW (NCT03037385)
- Testing
- pralsetinib (BLU-667)
- Where
- 71 sites in United States, Belgium and 11 more
- Volunteers
- 590 people
- Sponsor
- Hoffmann-La Roche
Breast Cancer
Promoting Informed Choice for Breast Cancer Screening: A Longitudinal Study
All participants will read a decision aid (DA) communicating evidence about mammography screening benefits and harms. Participants' evaluations of that evidence will be assessed, along with their screening intentions and receipt…
- Trial name
- NCT05838417
- Testing
- REDS survey
- Where
- 2 sites in United States
- Volunteers
- 499 people
- Sponsor
- University of Colorado, Denver
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Testing AZD5363 as a Potential Targeted Treatment in Cancers With AKT Genetic Changes (MATCH-Subprotocol Y)
This phase II MATCH treatment trial identifies the effects of AZD5363 in patients whose cancer has a genetic change called AKT mutation. AZD5363 may block AKT, which is a protein needed for cancer cell growth.
- Conditions
- Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Hematopoietic and Lymphoid Cell Neoplasm, Refractory Lymphoma
- Trial name
- NCT04439123
- Testing
- Capivasertib
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- National Cancer Institute (NCI)