Clinical trials: Genetic Mutation
Colon Adenoma, Colon Carcinoma
Nivolumab in Preventing Colon Adenomas in Participants With Lynch Syndrome and a History of Partial Colectomy
This phase II trial studies how well nivolumab works in preventing colon adenomas in participants with Lynch syndrome and a history of surgery to remove part of the colon.
- Conditions
- Colon Adenoma, Colon Carcinoma, Lynch Syndrome, MLH1 Gene Mutation
- Trial name
- NCT03631641
- Testing
- Nivolumab
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- John Hays
Non-squamous, Non-Small Cell Lung Cancer
Non-interventional Study for Real-world Data of Afatinib Treatment in First-line Setting and of Subsequent Therapies for Patients With Advanced Epidermal Growth Factor Receptor (EGFR) Mutation-positive Lung Adenocarcinoma
The primary objective is to confirm Time on Treatment (TOT) related to afatinib treatment as first-line therapy in patients with Epidermal Growth Factor Receptor (EGFR) mutation-positive Non-Small Cell Lung Cancer (NSCLC).
- Trial name
- NCT04795245
- Testing
- afatinib
- Where
- Japan
- Volunteers
- 805 people
- Sponsor
- Boehringer Ingelheim
Cystic Fibrosis
PTC Study to Evaluate Ataluren in Combination With Ivacaftor
The purpose of this study is to explore the combination of ataluren and ivacaftor as a treatment for patients with nonsense mutation cystic fibrosis
- Trial name
- NCT03256968
- Testing
- Ataluren
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of Alabama at Birmingham
Anatomic Stage IV Breast Cancer AJCC v8, HER2-Positive Breast Carcinoma
Testing the Addition of an Anti-cancer Drug, Copanlisib, to the Usual Maintenance Treatment (Trastuzumab and Pertuzumab) After Initial Chemotherapy in a Phase Ib/II Trial for Advanced HER2 Positive Breast Cancer
This phase Ib/II trial studies the side effects and best dose of copanlisib when given together with trastuzumab and pertuzumab and to see how well they work after induction treatment in treating patients with HER2 positive stage…
- Conditions
- Anatomic Stage IV Breast Cancer AJCC v8, HER2-Positive Breast Carcinoma, Metastatic Breast Carcinoma
- Trial name
- NCT04108858
- Testing
- Copanlisib, Pertuzumab, Trastuzumab
- Where
- 5 sites in United States
- Volunteers
- 2 people
- Sponsor
- National Cancer Institute (NCI)
Tumors With Aberrations in ALK or ROS1
Ceritinib (LDK378) for Patients Whose Tumors Have Aberrations in ALK or ROS1 (SIGNATURE)
The purpose of this signal seeking study was to determine whether treatment with ceritinib demonstrated sufficient efficacy in select pathway-activated solid tumors and/or hematologic malignancies to warrant further study.
- Trial name
- SIGNATURE (NCT02186821)
- Testing
- Ceritinib
- Where
- 21 sites in United States
- Volunteers
- 47 people
- Sponsor
- Novartis Pharmaceuticals
Thyroid Neoplasms
Ponatinib for Advanced Medullary Thyroid Cancer
Background: Medullary thyroid cancer (MTC) represents 5% of thyroid cancers and presents as a hereditary (25% of cases) or sporadic (75% of cases) neuroendocrine malignancy.
- Trial name
- NCT01838642
- Testing
- Ponatinib
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Institutes of Health Clinical Center (CC)
Ovarian Cancer
A Study of Adavosertib (MK-1775) in Combination With Paclitaxel and Carboplatin Versus Paclitaxel and Carboplatin Alone for Participants With Platinum-Sensitive Ovarian Tumors With the P53 Gene Mutation (MK-1775-004)
This is a study of the safety and efficacy of adavosertib in combination with paclitaxel plus carboplatin in the treatment of ovarian, fallopian tube, and primary peritoneal tumors with the P53 mutation.
- Trial name
- NCT01357161
- Testing
- adavosertib, paclitaxel, carboplatin
- Volunteers
- 136 people
- Sponsor
- Merck Sharp & Dohme LLC
Ovarian Cancer
BMN 673 (Talazoparib), an Oral PARP Inhibitor, in People With Deleterious BRCA1/2 Mutation-Associated Ovarian Cancer Who Have Had Prior PARP Inhibitor Treatment
Background: The new drug BMN 673 (talazoparib) has been shown to fight tumor cells in animals and some people. It is a poly (ADP-ribose) polymerase (PARP) inhibitor.
- Trial name
- NCT02326844
- Testing
- BMN 673 (talazoparib)
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Cancer Institute (NCI)
Cystic Fibrosis
Study of VX-809 in Cystic Fibrosis Subjects With the ∆F508-CFTR Gene Mutation
The primary objective of the study was to evaluate the safety and tolerability of VX-809 in participants with cystic fibrosis (CF) who are homozygous for the F508del mutation on the CF transmembrane conductance regulator (CFTR)…
- Trial name
- NCT00865904
- Testing
- VX-809
- Where
- 25 sites in United States, Belgium and 3 more
- Volunteers
- 93 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Thyroid Carcinoma, Thyroid Cancer
Vemurafenib Plus Copanlisib in Radioiodine-Refractory (RAIR) Thyroid Cancers
The purpose of this study is to develop a new drug treatment to reverse tumor resistance to radioiodine in BRAF mutant tumors so that radioiodine can be given to shrink tumors.
- Conditions
- Thyroid Carcinoma, Thyroid Cancer, Thyroid Cancer, Follicular, Thyroid Cancer (Follicular Cell)
- Trial name
- NCT04462471
- Testing
- I-124 PET/CT lesion dosimetry, Vemurafenib, Copanlisib
- Where
- 7 sites in United States
- Volunteers
- 8 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Non-Small-Cell Lung Carcinoma
A Study of Alectinib (RO5424802) in Participants With Non-Small Cell Lung Cancer Who Have Anaplastic Lymphoma Kinase (ALK) Mutation and Failed Crizotinib Treatment
This open-label, non-randomized, multicenter, Phase 1/2 study will evaluate the safety and efficacy of alectinib in participants with non-small cell lung cancer who have ALK mutation and failed crizotinib treatment.
- Trial name
- NCT01801111
- Testing
- Erlotinib, Alectinib
- Where
- 84 sites in United States, Australia and 14 more
- Volunteers
- 138 people
- Sponsor
- Hoffmann-La Roche
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
ATM Gene Mutation, BRCA1 Gene Mutation
Niraparib Before Surgery in Treating Patients With High Risk Localized Prostate Cancer and DNA Damage Response Defects
This phase II trial studies how well niraparib, when given before surgery, works in treating patients with high risk prostate cancer that has not spread to other parts of the body (localized) and alterations in deoxyribonucleic…
- Conditions
- ATM Gene Mutation, BRCA1 Gene Mutation, BRCA2 Gene Mutation, BRIP1 Gene Mutation
- Trial name
- NCT04030559
- Testing
- Niraparib, Niraparib Tosylate Monohydrate, Radical Prostatectomy
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- University of California, Davis
Relapsed Ovarian Cancer, BRCA Mutation, Platinum Sensitivity
Olaparib Treatment in Relapsed Germline Breast Cancer Susceptibility Gene (BRCA) Mutated Ovarian Cancer Patients Who Have Progressed at Least 6 Months After Last Platinum Treatment and Have Received at Least 2 Prior Platinum Treatments
Comparison of olaparib vs. physician's choice of single agent standard of care non-platinum based chemotherapy in patients with germline Breast Cancer susceptibility gene (gBRCA) mutated ovarian cancer who have progressed at…
- Trial name
- SOLO3 (NCT02282020)
- Testing
- OLAPARIB, Single agent chemotherapy
- Where
- 94 sites in United States, Argentina and 11 more
- Volunteers
- 266 people
- Sponsor
- AstraZeneca
Leptin Receptor Deficiency Obesity
Setmelanotide for the Treatment of Leptin Receptor (LEPR) Deficiency Obesity
To demonstrate statistically significant and clinically meaningful effects of setmelanotide on percent body weight change in participants with LEPR deficiency obesity due to rare bi-allelic or loss-of function mutations at the…
- Trial name
- NCT03287960
- Testing
- Setmelanotide
- Where
- 6 sites in Canada, France and 4 more
- Volunteers
- 15 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Cystic Fibrosis
Study of Ataluren (PTC124™) in Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder caused by a mutation in the gene that makes the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
- Trial name
- NCT00803205
- Testing
- Ataluren
- Where
- 38 sites in United States, Belgium and 9 more
- Volunteers
- 238 people
- Sponsor
- PTC Therapeutics
Cystic Fibrosis
A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of VX-661 in Combination With Ivacaftor
This is a Phase 3, randomized, double blind, placebo controlled, parallel group, multicenter study in people with cystic fibrosis (CF) who are homozygous for the F508del CF transmembrane conductance regulator (CFTR) gene mutation.
- Trial name
- NCT02347657
- Testing
- VX-661 Plus Ivacaftor Combination, Ivacaftor
- Where
- 74 sites in United States, Canada and 10 more
- Volunteers
- 510 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cystic Fibrosis
Study Evaluating the Long-term Safety and Efficacy of VX-445 Combination Therapy
This study evaluated the long-term safety, efficacy, and pharmacodynamics of elexacaftor (ELX, VX-445) in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are…
- Trial name
- NCT04058366
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 84 sites in United States, Australia and 10 more
- Volunteers
- 251 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Optic, Atrophy, Hereditary, Leber
Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation
The goal of this clinical trial is to assess the effectiveness of GS010, a gene therapy, in improving the visual outcome in participants with Leber Hereditary Optic Neuropathy (LHON) due to the G11778A ND4 mitochondrial mutation…
- Trial name
- RESCUE (NCT02652767)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 39 people
- Sponsor
- GenSight Biologics
NSCLC
Phase 2 Study of Poziotinib in Participants With NSCLC Having EGFR or HER2 Exon 20 Insertion Mutation
This is a Phase 2, open-label, multi-center study to evaluate the efficacy and the safety/tolerability of poziotinib in seven participant cohorts for up to 603 previously treated and treatment-naïve NSCLC participant.
- Trial name
- NCT03318939
- Testing
- Poziotinib
- Where
- 63 sites in United States, Belgium and 6 more
- Volunteers
- 648 people
- Sponsor
- Spectrum Pharmaceuticals, Inc