Clinical trials: Genetic Mutation
Cystic Fibrosis
Study of Ataluren (PTC124) in Cystic Fibrosis
The primary objective of this study is to determine the long-term safety and tolerability of ataluren in participants with nonsense mutation cystic fibrosis (nmCF) who completed participation in the double-blind study…
- Trial name
- NCT02107859
- Testing
- Ataluren
- Where
- 17 sites in United States, Belgium and 5 more
- Volunteers
- 61 people
- Sponsor
- PTC Therapeutics
NSCLC, Stage IV, NSCLC Stage IIIB
Study of Tarloxotinib in Pts With NSCLC (EGFR Exon 20 Insertion, HER2-activating Mutations) & Other Solid Tumors With NRG1/ERBB Gene Fusions
Open-label, Phase 2, single treatment arm, 3 cohorts
- Conditions
- NSCLC, Stage IV, NSCLC Stage IIIB, NSCLC, Stage IIIC, NSCLC, Recurrent
- Trial name
- RAIN (NCT03805841)
- Testing
- tarloxotinib bromide
- Where
- 14 sites in United States, Canada and 1 more
- Volunteers
- 41 people
- Sponsor
- Rain Oncology Inc
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Phase 2B Study of PTC124 (Ataluren) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)
DMD/BMD is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function.
- Trial name
- NCT00592553
- Testing
- Ataluren
- Where
- 37 sites in United States, Australia and 9 more
- Volunteers
- 174 people
- Sponsor
- PTC Therapeutics
Breast Cancer Metastatic, BRCA 1 Gene Mutation
Assessment of the Efficacy and Safety of Olaparib Monotherapy Versus Physicians Choice Chemotherapy in the Treatment of Metastatic Breast Cancer Patients With Germline BRCA1/2 Mutations.
This open label, randomised, controlled, multi-centre phase III study will assess the efficacy and safety of single agent olaparib vs standard of care based on physician's choice of capecitabine, vinorelbine or eribulin in…
- Conditions
- Breast Cancer Metastatic, BRCA 1 Gene Mutation, BRCA 2 Gene Mutation
- Trial name
- OlympiAD (NCT02000622)
- Testing
- Olaparib, Physician's choice chemotherapy
- Where
- 171 sites in United States, Bulgaria and 17 more
- Volunteers
- 302 people
- Sponsor
- AstraZeneca
EGFR Mutation-positive Inoperable or Reccrent NSCLC
Special Investigation for VIZIMPRO Tablets (Secondary Data Collection Study; Safety and Efficacy of VIZIMPRO Under Japanese Medical Practice)
Secondary data collection study: safety and efficacy of VIZIMPRO under Japanese medical practice
- Trial name
- NCT04155541
- Testing
- dacomitinib hydrate
- Where
- Japan
- Volunteers
- 40 people
- Sponsor
- Pfizer
Non-Small Cell Lung Cancer, Leptomeningeal Metastases
Phase 2 Study of Study of Tesevatinib in Subjects With NSCLC and Brain or Leptomeningeal Metastases
A study to assess the activity of tesevatinib in subjects with non-small cell lung cancer (NSCLC) and activating epidermal growth factor receptor (EGFR) mutations who have disease progression with Brain Metastases (BM) or…
- Conditions
- Non-Small Cell Lung Cancer, Leptomeningeal Metastases, Brain Metastases
- Trial name
- NCT02616393
- Testing
- Tesevatinib
- Where
- 7 sites in United States
- Volunteers
- 36 people
- Sponsor
- Kadmon Corporation, LLC
Cystic Fibrosis
A Phase 2 Study to Evaluate Effects of VX-661/Ivacaftor on Lung and Extrapulmonary Systems in Subjects With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation
To evaluate the clinical mechanisms of action in lung and extrapulmonary systems of VX-661 (tezacaftor; TEZ) in combination with ivacaftor (IVA) (TEZ/IVA) in participants with cystic fibrosis (CF) who are homozygous for the…
- Trial name
- NCT02508207
- Testing
- Tezacaftor/Ivacaftor, Ivacaftor
- Where
- 7 sites in United States
- Volunteers
- 34 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Metastatic Cancers
Study to Analyze Mutations in V600 BRAF Oncogen in Participants With Metastatic Melanoma
This is a national, multicenter, cross-sectional epidemiological study in adult Spanish participants diagnosed with advanced or metastatic melanoma.
- Trial name
- NCT02663232
- Where
- 33 sites in Spain
- Volunteers
- 264 people
- Sponsor
- Hoffmann-La Roche
Stage IB-IIIA Non-small Cell Lung Carcinoma
AZD9291 Versus Placebo in Patients With Stage IB-IIIA Non-small Cell Lung Carcinoma, Following Complete Tumour Resection With or Without Adjuvant Chemotherapy.
To assess the efficacy and safety of AZD9291 versus Placebo, in patients with Epidermal Growth Factor Receptor Mutation Positive stage IB-IIIA non-small cell lung carcinoma, following complete tumour resection with or without…
- Trial name
- ADAURA (NCT02511106)
- Testing
- AZD9291 80 mg/40 mg, Open-label AZD9291 80 mg/40 mg
- Where
- 238 sites in United States, Australia and 23 more
- Volunteers
- 682 people
- Sponsor
- AstraZeneca
Solid Tumor, Glioma
Study of Orally Administered Enasidenib (AG-221) in Adults With Advanced Solid Tumors, Including Glioma, or Angioimmunoblastic T-cell Lymphoma, With an IDH2 Mutation
The purpose of this study is to evaluate the safety, pharmacokinetics, and clinical activity of enasidenib in adults with advanced solid tumors, including glioma, or with angioimmunoblastic T-cell lymphoma (AITL), with an…
- Conditions
- Solid Tumor, Glioma, Angioimmunoblastic T-cell Lymphoma, Intrahepatic Cholangiocarcinoma
- Trial name
- NCT02273739
- Testing
- Enasidenib
- Where
- 12 sites in United States, France
- Volunteers
- 21 people
- Sponsor
- Celgene
Non-Small Cell Lung Cancer
A Study of TAS3351 in NSCLC Patients With EGFRmt
This is a first-in-human, open label, Phase 1/2 study to investigate the safety and efficacy of TAS3351 in participants with advanced or metastatic non-small cell lung cancer (NSCLC) harboring an acquired C797S epidermal growth…
- Trial name
- TAS3351 (NCT05765734)
- Testing
- TAS3351
- Where
- 8 sites in United States, France and 3 more
- Volunteers
- 18 people
- Sponsor
- Taiho Oncology, Inc.
Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation
This is a medical research study to test a medication in adult patients with a disease called medium-chain acyl-CoA dehydrogenase (MCAD) deficiency caused by at least one copy of the 985A>G mutation.
- Trial name
- NCT01881984
- Testing
- Ravicti
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- University of Pittsburgh
Tumor, Tumor, Solid
Phase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1/TSC2 Genes (PRECISION 1)
A Phase 2 multi-center open-label basket trial of nab-sirolimus for adult and adolescent patients with malignant solid tumors harboring pathogenic inactivating alterations in TSC1 or TSC2 genes
- Conditions
- Tumor, Tumor, Solid, Metastasis, Metastatic Cancer
- Trial name
- NCT05103358
- Testing
- nab-sirolimus
- Where
- 166 sites in United States, Puerto Rico and 1 more
- Volunteers
- 128 people
- Sponsor
- Aadi Bioscience, Inc.
Acute Myeloid Leukemia (AML), Acute Myeloid Leukemia With FMS-like Tyrosine Kinase (FLT3) Mutation
A Study of ASP2215 (Gilteritinib) by Itself, ASP2215 Combined With Azacitidine or Azacitidine by Itself to Treat Adult Patients Who Have Recently Been Diagnosed With Acute Myeloid Leukemia With a FLT3 Gene Mutation and Who Cannot Receive Standard Chemotherapy
This was a clinical study for adult participants who were recently diagnosed with acute myeloid leukemia or AML. AML is a type of cancer. It is when bone marrow makes white blood cells that are not normal.
- Trial name
- NCT02752035
- Testing
- gilteritinib, azacitidine
- Where
- 111 sites in United States, Australia and 11 more
- Volunteers
- 183 people
- Sponsor
- Astellas Pharma Global Development, Inc.
Cystic Fibrosis (CF)
Study to Evaluate Adverse Events and Change in Disease Activity With Oral Capsules of Galicaftor/Navocaftor/ABBV-119 or Galicaftor/Navocaftor/ABBV-576 Combination Therapies in Adult Participants With Cystic Fibrosis
Cystic Fibrosis (CF) is a rare, life-threatening, genetic disease that affects the lungs and digestive system, significantly impairing the quality of life, with those affected having a median age of death at 40.
- Trial name
- NCT04853368
- Testing
- ABBV-576, Galicaftor, Navocaftor
- Where
- 41 sites in United States, Australia and 5 more
- Volunteers
- 48 people
- Sponsor
- AbbVie
Duchenne Muscular Dystrophy
Dose-Ranging Study of AVI-4658 to Induce Dystrophin Expression in Selected Duchenne Muscular Dystrophy (DMD) Patients
The specific aim of this Phase I/II study is to assess the safety of intravenous administered Morpholino oligomer directed against exon 51 (AVI-4658 PMO).
- Trial name
- NCT00844597
- Testing
- AVI-4658 for Injection
- Where
- 2 sites in United Kingdom
- Volunteers
- 19 people
- Sponsor
- Sarepta Therapeutics, Inc.
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Testing Sunitinib as Potentially Targeted Treatment in Cancers With cKIT Genetic Changes (MATCH - Subprotocol V)
This phase II MATCH treatment trial tests how well sunitinib in treating patients with cancer that has certain genetic changes. Sunitinib is in a class of medications called kinase inhibitors.
- Conditions
- Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Refractory Lymphoma, Refractory Malignant Solid Neoplasm
- Trial name
- NCT06390826
- Testing
- Biopsy Procedure, Biospecimen Collection, Computed Tomography
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- National Cancer Institute (NCI)
Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Childhood Non-Hodgkin Lymphoma
Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial)
This phase II Pediatric MATCH trial studies how well vemurafenib works in treating patients with solid tumors, non-Hodgkin lymphoma, or histiocytic disorders with BRAF V600 mutations that have spread to other places in the body…
- Conditions
- Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Childhood Non-Hodgkin Lymphoma, Ann Arbor Stage IV Childhood Non-Hodgkin Lymphoma, Ependymoma
- Trial name
- NCT03220035
- Testing
- Laboratory Biomarker Analysis, Vemurafenib
- Where
- 116 sites in United States, Puerto Rico
- Volunteers
- 4 people
- Sponsor
- National Cancer Institute (NCI)
Pediatric Philadelphia Chromosome-positive Acute Lymphoblastic Leukemia (Ph+ALL), Ph+ Mixed Phenotype Acute Leukemia (MPAL)
A Study of Ponatinib With Chemotherapy in Children, Teenagers, and Adults With Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia
This study is about an anticancer drug called ponatinib which is a tyrosine kinase inhibitor given with chemotherapy to children, teenagers, and young adults up to 21 years of age with Philadelphia Chromosome-Positive Acute…
- Conditions
- Pediatric Philadelphia Chromosome-positive Acute Lymphoblastic Leukemia (Ph+ALL), Ph+ Mixed Phenotype Acute Leukemia (MPAL), Philadelphia Chromosome-Like ALL (Ph-like ALL)
- Trial name
- NCT04501614
- Testing
- Ponatinib, Chemotherapy Agents
- Where
- 64 sites in United States, Argentina and 13 more
- Volunteers
- 11 people
- Sponsor
- Takeda
Caucasian Patients With EGFR Mutation Positive Advanced NSCLC
Efficacy, Safety, Tolerability of Gefitinib as 1st Line in Caucasian Patients With EGFR Mutation Positive Advanced NSCLC
This study is carried out to see how Caucasian patients with lung cancer which has EGFR mutation will respond to gefitinib (IRESSA™) as a first line treatment.
- Trial name
- IFUM (NCT01203917)
- Testing
- Gefitinib
- Where
- 61 sites in Bulgaria, France and 11 more
- Volunteers
- 1,060 people
- Sponsor
- AstraZeneca