Clinical trials: Genetic Mutation
Melanoma and Brain Metastases
Dabrafenib/Trametinib, BRAF or BRAF AND MEK Pre-op With BRAF and MEK Post-op, Phase IIB, Melanoma With Brain Mets,Biomarkers and Metabolites
This is a global, multi-centre, open-label, study of GSK2118436 conducted in up to 30 evaluable subjects with resectable, BRAF V600E or V600K mutation-positive metastatic melanoma to the brain.
- Trial name
- NCT01978236
- Testing
- Dabrafenib 150 mg, Trametinib 2.0 mg
- Where
- 3 sites in United States, Australia
- Volunteers
- 6 people
- Sponsor
- GlaxoSmithKline
Cystic Fibrosis
Evaluation of Efficacy and Safety of Elexacaftor/Tezacaftor/Ivacaftor (ELX/TEZ/IVA) in Cystic Fibrosis Subjects Without an F508del Mutation
This study evaluated the efficacy, pharmacodynamics (PD) and safety of ELX/TEZ/IVA in participants 6 years of age and older with a non-F508del ELX/TEZ/IVA-responsive cystic fibrosis transmembrane conductance regulator gene (CFTR)…
- Trial name
- NCT05274269
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 90 sites in Austria, Belgium and 13 more
- Volunteers
- 307 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Carcinoma, Non-Small-Cell Lung
Afatinib Osimertinib Sequencing NIS
This is a non-interventional, multi-country, multi-centre cohort study based on existing data from medical records of patients with EGFR mutation-positive advanced NSCLC treated with afatinib (Gi(l)otrif®) as the first-line…
- Trial name
- NCT03370770
- Testing
- Afatinib, Osimertinib
- Where
- Austria
- Volunteers
- 204 people
- Sponsor
- Boehringer Ingelheim
FGFR1 Gene Amplification, FGFR1 Gene Mutation
Lung-MAP: AZD4547 as Second-Line Therapy in Treating FGFR Positive Patients With Recurrent Stage IV Squamous Cell Lung Cancer
This phase II/III trial studies how well FGFR inhibitor AZD4547 (AZD4547) works in treating patients with stage IV squamous cell lung cancer that has come back after previous treatment.
- Conditions
- FGFR1 Gene Amplification, FGFR1 Gene Mutation, FGFR2 Gene Amplification, FGFR2 Gene Mutation
- Trial name
- NCT02965378
- Testing
- Docetaxel, FGFR Inhibitor AZD4547, Laboratory Biomarker Analysis
- Where
- 1,084 sites in United States, Canada
- Volunteers
- 43 people
- Sponsor
- SWOG Cancer Research Network
Metastatic Triple Negative Breast Cancer
To Assess Safety and Efficacy of Agents Targeting DNA Damage Repair With Olaparib Versus Olaparib Monotherapy.
This study is to assess the efficacy and safety of olaparib monotherapy versus olaparib in combination with an inhibitor of ATR (Ataxia-Telangiectasia Mutated (ATM) and Rad3-related protein kinase (Ceralasertib [AZD6738]) and…
- Trial name
- NCT03330847
- Testing
- Olaparib Continuous (28-Day cycle) 300 mg BD., Ceralasertib 160 mg OD + olaparib continuous 300 mg BD (28-day cycle)., Adavosertib 150 mg BD + olaparib 200 mg BD (21-day cycle).
- Where
- 141 sites in United States, Belgium and 13 more
- Volunteers
- 273 people
- Sponsor
- AstraZeneca
Epilepsy
Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome
This is a phase 2, crossover study of Ataluren for the treatment of nonsense mutation Dravet syndrome or cyclin-dependent kinase-like 5 (CDKL5) deficiency, resulting in drug-resistant epilepsy.
- Trial name
- NCT02758626
- Testing
- ataluren
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- NYU Langone Health
Cystic Fibrosis
Safety and Pharmacokinetic Study of N6022 in Subjects With Cystic Fibrosis Homozygous for the F508del-CFTR Mutation
The purpose of this study is to investigate the safety, tolerability and pharmacokinetics of N6022, and to obtain descriptive information on the effect of N6022 on biomarkers of CFTR function and inflammation in adult cystic…
- Trial name
- SNO-1 (NCT01746784)
- Testing
- N6022, Normal saline
- Where
- 17 sites in United States
- Volunteers
- 66 people
- Sponsor
- Nivalis Therapeutics, Inc.
Carcinoma, Non-Small-Cell Lung
Evaluation of the Impact of Nurse-led Telephone on Treatment Compliance
The study will take place over a period of 27 months. The recruitment phase will last approximately 24 months and each patient will participate for approximately 3 months.
- Trial name
- NCT02483416
- Where
- 36 sites in France
- Volunteers
- 30 people
- Sponsor
- Boehringer Ingelheim
Ovarian Cancer
Delayed Initiation of Olaparib Maintenance Therapy in Platinum Sensitive Recurrent Ovarian Cancer
The purpose of this study is to test if delaying the start of the olaparib until there is a rise in a tumor marker called CA-125 will result in a longer time until the next or different treatment for the patient's cancer.
- Trial name
- NCT04377087
- Testing
- Olaparib
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Sarah E Taylor
Cancer
Efficacy and Safety of the Combination Therapy of Dabrafenib and Trametinib in Subjects With BRAF V600E- Mutated Rare Cancers
This was a Phase II, open-label, non-randomized, multi-center study of oral dabrafenib in combination with oral trametinib in subjects with rare cancers harboring the BRAF V600E mutation including anaplastic thyroid cancer (ATC)…
- Trial name
- NCT02034110
- Testing
- Dabrafenib, Trametinib
- Where
- 41 sites in United States, Austria and 12 more
- Volunteers
- 206 people
- Sponsor
- Novartis Pharmaceuticals
Neoplasms, Brain
A Study to Determine Safety, Tolerability and Pharmacokinetics of Oral Dabrafenib In Children and Adolescent Subjects
This was a 2-part, Phase I/IIa, multi-center, open label, study in pediatric and adolescent patients with advanced BRAF V600 mutation-positive solid tumors.
- Trial name
- NCT01677741
- Testing
- Dabrafenib
- Where
- 26 sites in United States, Australia and 8 more
- Volunteers
- 85 people
- Sponsor
- Novartis Pharmaceuticals
Duchenne Muscular Dystrophy
Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD)
The objective of this study is to assess the safety and tolerability of 10, 10, 20 milligrams per kilogram (mg/kg) ataluren in participants with nmDBMD who had prior exposure to ataluren in a PTC sponsored clinical trial or…
- Trial name
- NCT01247207
- Testing
- Ataluren
- Where
- 34 sites in United States, Canada
- Volunteers
- 265 people
- Sponsor
- PTC Therapeutics
Cystic Fibrosis
An Efficacy and Safety Study of Ivacaftor in Patients With Cystic Fibrosis and Two Splicing Mutations
This postmarketing N of 2 study is designed to evaluate the efficacy and safety of open-label ivacaftor treatment in two sisters with cystic fibrosis and pancreatic sufficiency.
- Trial name
- NCT02934698
- Testing
- Ivacaftor
- Volunteers
- 2 people
- Sponsor
- Medical University of South Carolina
Cystic Fibrosis, Homozygous or Heterozygous for the F508del-CFTR Mutation
A Phase 3 Rollover Study of Lumacaftor in Combination With Ivacaftor in Subjects 12 Years and Older With Cystic Fibrosis
The purpose of this study is to evaluate the efficacy and safety of long-term treatment with lumacaftor in combination with ivacaftor in people 12 years and older with Cystic Fibrosis.
- Trial name
- NCT01931839
- Testing
- Lumacaftor Plus Ivacaftor Combination, Ivacaftor
- Where
- 166 sites in United States, Australia and 13 more
- Volunteers
- 1,164 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Advanced Solid Neoplasms
Efficacy and Safety of Olaparib (MK-7339) in Participants With Previously Treated, Homologous Recombination Repair Mutation (HRRm) or Homologous Recombination Deficiency (HRD) Positive Advanced Cancer (MK-7339-002 / LYNK-002)
This study will evaluate the efficacy and safety of olaparib (MK-7339) monotherapy in participants with multiple types of advanced cancer (unresectable and/or metastatic) that: 1) have progressed or been intolerant to standard of…
- Trial name
- NCT03742895
- Testing
- Olaparib
- Where
- 130 sites in United States, Argentina and 19 more
- Volunteers
- 329 people
- Sponsor
- Merck Sharp & Dohme LLC
Melanoma
Phase 2 Study of Neoadjuvant Vemurafenib in Melanoma Patients With Untreated Brain Metastases
The purpose of this trial is to study the activity of vemurafenib in untreated melanoma brain metastases harboring B-Raf proto-oncogene, serine/threonine kinase (BRAF) mutations that are not amenable to stereotactic radiosurgery…
- Trial name
- NCT01781026
- Testing
- Vemurafenib
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Yale University
Schizophrenia, Bipolar Disorder
Targeting a Genetic Mutation in Glycine Metabolism With D-cycloserine
The purpose of this study is to assess the efficacy of d-cycloserine (DCS) as an augmentation strategy in two psychotic patients with a triplication (4 copies) of the glycine decarboxylase (GLDC) gene.
- Trial name
- DCS (NCT02304432)
- Testing
- D-cycloserine
- Volunteers
- 2 people
- Sponsor
- Mclean Hospital
Metastatic Breast Cancer
A Phase 3 Randomized, Placebo-controlled Trial of Carboplatin and Paclitaxel With or Without Veliparib (ABT-888) in HER2-negative Metastatic or Locally Advanced Unresectable BRCA-associated Breast Cancer
The primary objective of the study is to assess the progression-free survival (PFS) of veliparib in combination with carboplatin and paclitaxel (C/P) compared to placebo plus C/P in participants with a Breast Cancer Gene 1 or 2…
- Trial name
- NCT02163694
- Testing
- Veliparib, Carboplatin, Paclitaxel
- Where
- 219 sites in United States, Argentina and 35 more
- Volunteers
- 513 people
- Sponsor
- AbbVie
Cystic Fibrosis, Homozygous for the F508del CFTR Mutation
A Study of Lumacaftor in Combination With Ivacaftor in Cystic Fibrosis Subjects Aged 12 Years and Older Who Are Homozygous for the F508del-CFTR Mutation
The primary objective of the study was to evaluate the efficacy of lumacaftor in combination with ivacaftor at Week 24 in participants aged 12 years and older with cystic fibrosis (CF) who are homozygous for the F508del mutation…
- Trial name
- TRAFFIC (NCT01807923)
- Testing
- Lumacaftor Plus Ivacaftor Combination, Ivacaftor
- Where
- 89 sites in United States, Australia and 9 more
- Volunteers
- 559 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission
Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
This phase II trial studies how well fludarabine phosphate, cyclophosphamide, total body irradiation, and donor stem cell transplant work in treating patients with blood cancer.
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission, Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
- Trial name
- NCT03333486
- Testing
- Cyclophosphamide, Fludarabine Phosphate, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- Roswell Park Cancer Institute