Clinical trials: Gene Mutations
Cystic Fibrosis
Novel Therapeutic Approaches for Treatment of CF Patients With W1282X Premature Termination Codon Mutations
Based on previous clinical findings, the investigator hypothesize that ivacaftor will have synergistic effects with drugs that facilitate truncated but partially active W1282X CFTR protein processing (tezacaftor) in patients with…
- Trial name
- NCT03624101
- Testing
- Symdeko, Ivacaftor and Symdeko
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of Alabama at Birmingham
Leber Congenital Amaurosis 10, Blindness
Extension Study to Study PQ-110-001 (NCT03140969)
Subjects completing participation in study PQ-110-001 (EudraCT 2017-000813-22 / NCT03140969) will be given the opportunity to enroll into the extension study for continued dosing if available data support current and/or future…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- INSIGHT (NCT03913130)
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 9 people
- Sponsor
- Laboratoires Thea
Malignant Melanoma
Study Of Zelboraf (Vemurafenib) in Patients With Locally-Advanced, Unresectable, Stage IIIc Or Metastatic Melanoma and Activating Exon 15 BRAF Mutations Other Than V600E
This is an open-label, multicenter, single-agent, phase II study of continuous oral Zelboraf (vemurafenib) in participants with locally-advanced, unresectable, stage IIIc or metastatic melanoma and activating exon 15 BRAF…
- Trial name
- NCT01586195
- Testing
- Vemurafenib
- Where
- 15 sites in United States
- Volunteers
- 31 people
- Sponsor
- Genentech, Inc.
Hypercholesterolemia
Evolocumab Compared to LDL-C Apheresis in Patients Receiving LDL-C Apheresis Prior to Study Enrollment
To evaluate the efficacy of subcutaneous (SC) evolocumab, compared to regularly scheduled low-density lipoprotein cholesterol (LDL-C) apheresis, on reducing the need for future apheresis.
- Trial name
- NCT02585895
- Testing
- Evolocumab, Low-density Lipoprotein Cholesterol (LDL-C) Apheresis
- Where
- 17 sites in United States, Australia and 6 more
- Volunteers
- 39 people
- Sponsor
- Amgen
Hypercholesterolemia
A Study of Alirocumab in Participants With Autosomal Dominant Hypercholesterolemia (ADH) and Gain-of-Function Mutations (GOFm) of the Proprotein Convertase Subtilisin Kexin 9 (PCSK9) Gene or Loss-of-Function Mutations (LOFm) of the Apolipoprotein (Apo) B Gene
The primary objective of the study is to assess the pharmacodynamic (PD) effect of alirocumab on serum low density lipoprotein cholesterol (LDL-C) during 14 weeks of subcutaneous (SC) administered alirocumab in patients with…
- Trial name
- NCT01604824
- Testing
- Alirocumab
- Where
- 4 sites in United States, France
- Volunteers
- 23 people
- Sponsor
- Regeneron Pharmaceuticals
Oncology, MET Gene Amplification
Sym015 (Anti-MET) in Patients With Advanced Solid Tumor Malignancies
This is the first study to test Sym015 in humans. The primary purpose of this study is to see if Sym015 is safe and effective for patients with advanced solid tumor malignancies without available therapeutic options.
- Conditions
- Oncology, MET Gene Amplification, NSCLC, MET Gene Mutation
- Trial name
- NCT02648724
- Testing
- Sym015
- Where
- 27 sites in United States, Denmark and 4 more
- Volunteers
- 57 people
- Sponsor
- Symphogen A/S
Advanced Cancers
Phosphatidylinositol 3 Kinase and Mammalian Target of Rapamycin (PI3K-mTOR) in Advanced Cancer Patients
The goal of this clinical research study is to learn if temsirolimus can help to control advanced cancer in patients who also have a PI3K mutation and/or PTEN loss. The safety of this drug will also be tested.
- Trial name
- NCT00877773
- Testing
- Temsirolimus
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- M.D. Anderson Cancer Center
Prostate Cancer, Prostate Adenocarcinoma
A Study of the Drugs Talazoparib and Temozolomide in Prostate Cancer
The purpose of this study is to determine what the safest dose of talazoparib plus temozolomide for participants with metastatic castration resistant prostate cancer.
- Conditions
- Prostate Cancer, Prostate Adenocarcinoma, Prostate Neoplasm, Prostate Cancer Metastatic
- Trial name
- NCT04019327
- Testing
- Talazoparib, Temozolomide
- Where
- 9 sites in United States
- Volunteers
- 16 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Leber's Congenital Amaurosis
Study to Evaluate QR-110 in Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene
The purpose of this study is to evaluate the safety and tolerability of QR-110 administered via intravitreal injection in subjects with LCA due to the CEP290 p.Cys998X mutation.
- Trial name
- NCT03140969
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 11 people
- Sponsor
- Laboratoires Thea
Neoplasms, Solid Tumors
My Pathway: A Study Evaluating Herceptin/Perjeta, Tarceva, Zelboraf/Cotellic, Erivedge, Alecensa, and Tecentriq Treatment Targeted Against Certain Molecular Alterations in Participants With Advanced Solid Tumors
This multicenter, non-randomized, open-label study will evaluate the efficacy and safety of six treatment regimens in participants with advanced solid tumors for whom therapies that will convey clinical benefit are not available…
- Conditions
- Neoplasms, Solid Tumors, Biliary Cancer, Salivary Cancer
- Trial name
- NCT02091141
- Testing
- Trastuzumab, Pertuzumab, Erlotinib
- Where
- 60 sites in United States
- Volunteers
- 673 people
- Sponsor
- Genentech, Inc.
Metastatic Squamous Neck Cancer With Occult Primary Squamous Cell Carcinoma
SF1126 in Recurrent or Progressive SCCHN and Mutations in PIK3CA Gene and/or PI-3 Kinase Pathway Genes
The purpose of this study is to test the good and bad effects of an experimental drug called SF1126. This drug is being tested in patients whose cancer has not been controlled by available standard therapies and who have certain…
- Trial name
- NCT02644122
- Testing
- SF1126
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Ezra Cohen
Peptic Ulcer, Helicobacter Pylori Infection
Clarithromycin Resistant Tailored Therapy
1. Back ground Antibiotics resistance of Helicobacter pylori, especially to clarithromycin is one of the main causes of failure of eradication.
- Trial name
- NCT01453036
- Testing
- 23S rRNA point mutation test of Helicobacter pylori, UBT test & Gastroenterology with biopsy c silver stain
- Where
- South Korea
- Volunteers
- 924 people, healthy volunteers welcome
- Sponsor
- Jin Il Kim
ATM Gene Mutation, ATR Gene Mutation
Lung-MAP: Talazoparib in Treating Patients With HRRD Positive Recurrent Stage IV Squamous Cell Lung Cancer
This phase II trial studies how well talazoparib works in treating patients with homologous recombination repair deficiency (HRRD) positive stage IV squamous cell lung cancer that has come back after previous treatment.
- Conditions
- ATM Gene Mutation, ATR Gene Mutation, BARD1 Gene Mutation, BRCA1 Gene Mutation
- Trial name
- NCT03377556
- Testing
- Laboratory Biomarker Analysis, Pharmacological Study, Talazoparib
- Where
- 1,157 sites in United States, Canada
- Volunteers
- 51 people
- Sponsor
- SWOG Cancer Research Network
Advanced Malignant Solid Neoplasm, Cholangiocarcinoma
Infigratinib for the Treatment of Advanced or Metastatic Solid Tumors in Patients With FGFR Gene Mutations
This phase II trial studies how well infigratinib works in treating solid tumors that have spread to other places in the body (advanced or metastatic) in patients with FGFR gene mutations such as FGFR1-3 gene fusions or other…
- Conditions
- Advanced Malignant Solid Neoplasm, Cholangiocarcinoma, Metastatic Malignant Solid Neoplasm, Refractory Malignant Solid Neoplasm
- Trial name
- NCT04233567
- Testing
- Infigratinib
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Sameek Roychowdhury
Dilated Cardiomyopathy, Lamin A/C Gene Mutation
A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
This is a randomized, double-blind, placebo-controlled study in patients with dilated cardiomyopathy (DCM) due to a mutation of the gene encoding the lamin A/C protein (LMNA).
- Trial name
- REALM-DCM (NCT03439514)
- Testing
- ARRY-371797 (PF-07265803)
- Where
- 107 sites in United States, Argentina and 8 more
- Volunteers
- 77 people
- Sponsor
- Pfizer
Recurrent Non-Small Cell Lung Carcinoma, Stage IV Non-Small Cell Lung Cancer
Paclitaxel Albumin-Stabilized Nanoparticle Formulation in Treating Patients With Previously Treated Advanced Non-small Cell Lung Cancer
This research study examines the use of Abraxane (paclitaxel albumin-stabilized nanoparticle formulation) in patients with lung cancer. Abraxane is a chemotherapy approved to treat patients with breast cancer.
- Trial name
- NCT01620190
- Testing
- Laboratory Biomarker Analysis, Paclitaxel Albumin-Stabilized Nanoparticle Formulation
- Where
- 12 sites in United States
- Volunteers
- 26 people
- Sponsor
- University of Washington
Non - Small Cell Lung Cancer NSCLC
A Global Study to Assess the Effects of MEDI4736 (Durvalumab), Given as Monotherapy or in Combination With Tremelimumab Determined by PD-L1 Expression Versus Standard of Care in Patients With Locally Advanced or Metastatic Non Small Cell Lung Cancer
This study is a Phase III, randomised, open label, multi-centre study assessing the efficacy and safety of MEDI4736 (durvalumab) versus Standard of Care in NSCLC patients with PD-L1 positive tumours and the combination of…
- Trial name
- ARCTIC (NCT02352948)
- Testing
- MEDI4736 (durvalumab), Vinorelbine, Gemcitabine
- Where
- 201 sites in United States, Australia and 24 more
- Volunteers
- 597 people
- Sponsor
- AstraZeneca
Lung Cancer, Non-small Cell Lung Cancer (NSCLC)
Phase I Trial of Afatinib (BIBW 2992) and Dasatinib in Non-small Cell Lung Cancer (NSCLC)
The purpose of this study is to: Find out if the study drugs Afatinib and Dasatinib can be safely given together to patients with lung cancer Learn how these two drugs work in cancer cells when they are combined Learn more about…
- Trial name
- NCT01999985
- Testing
- Dasatinib - 1A, Afatinib - 1A, Dasatinib - 1B
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- H. Lee Moffitt Cancer Center and Research Institute
Sickle Cell Disease, Vaso-occlusive Crisis
A Study of a Single Dose of Inclacumab to Reduce Re-admission in Participants With Sickle Cell Disease and Recurrent Vaso-occlusive Crises
This Phase 3 study will assess the safety and efficacy of a single dose of inclacumab, a P-selectin inhibitor, for a vaso-occlusive crisis (VOC) after an index VOC in participants with sickle cell disease (SCD).
- Conditions
- Sickle Cell Disease, Vaso-occlusive Crisis, Vaso-occlusive Pain Episode in Sickle Cell Disease
- Trial name
- NCT04927247
- Testing
- Inclacumab
- Where
- 59 sites in United States, Brazil and 12 more
- Volunteers
- 72 people
- Sponsor
- Pfizer
Recurrent Ependymoma, Recurrent Ewing Sarcoma
Ivosidenib in Treating Patients With Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With IDH1 Mutations (A Pediatric MATCH Treatment Trial)
This phase II Pediatric MATCH trial studies how well ivosidenib works in treating patients with solid tumors, including central nervous system tumors, lymphomas and histiocytic disorders that have not responded to (refractory) or…
- Conditions
- Recurrent Ependymoma, Recurrent Ewing Sarcoma, Recurrent Hepatoblastoma, Recurrent Langerhans Cell Histiocytosis
- Trial name
- NCT04195555
- Testing
- Ivosidenib
- Where
- 174 sites in United States, Australia and 1 more
- Volunteers
- 3 people
- Sponsor
- National Cancer Institute (NCI)