Clinical trials: Genetic Mutation
Lung Cancer
Metformin in Non Small Cell Lung Cancer (NSCLC)
The goal of this clinical research study is to learn if giving metformin in combination with radiation therapy is more effective than radiation therapy alone.
- Trial name
- NCT02285855
- Testing
- Metformin, Stereotactic body Radiotherapy (SBRT)
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- M.D. Anderson Cancer Center
Leukemia, Myeloid, Acute
A Study of CPX-351 (Vyxeos™) With Quizartinib for the Treatment of FLT3-ITD Mutation-Positive Acute Myeloid Leukemia
This is a research study to be done at multiple sites in participants with advanced acute myeloid leukemia (AML) that have a mutation in Fms-like tyrosine kinase-3 internal tandem duplications (FLT3-ITD).
- Trial name
- NCT04209725
- Testing
- CPX-351, Quizartinib
- Where
- 5 sites in United States
- Volunteers
- 1 people
- Sponsor
- SCRI Development Innovations, LLC
Melanoma
Combined BRAF-Targeted Therapy & Immunotherapy for Melanoma
This research study is a Phase II clinical trial of an investigational combination of drugs (vemurafenib and aldesleukin) to learn whether the combination works in treating a specific cancer.
- Trial name
- NCT01754376
- Testing
- Aldesleukin, Vemurafenib
- Where
- 2 sites in United States
- Volunteers
- 6 people
- Sponsor
- Massachusetts General Hospital
Ovarian Cancer, Breast Cancer
Prospective Multicentre Phase-IV Clinical Trial of Olaparib in Indian Patients With Ovarian and Metastatic Breast Cancer
A Prospective, Multicentre, Phase-IV Clinical Trial of Olaparib in Indian Patients with Platinum Sensitive Relapsed Ovarian Cancer who are in Complete or Partial Response Following Platinum based Chemotherapy and Metastatic…
- Trial name
- SOLI (NCT04330040)
- Testing
- Olaparib
- Where
- 16 sites in India
- Volunteers
- 202 people
- Sponsor
- AstraZeneca
High Tumor Mutation Burden, High TMB (Tumor Mutation Burden)
Study of MK-3475 (Pembrolizumab) in Patients With Microsatellite Unstable (MSI) Tumors (Cohort D)
This study will be looking at whether MK-3475 (pembrolizumab) is effective (anti-tumor activity) and safe in patients with MSI (Microsatellite Unstable) negative cancer with a mutator phenotype.
- Conditions
- High Tumor Mutation Burden, High TMB (Tumor Mutation Burden), MSS (Microsatellite Stable)
- Trial name
- NCT04098068
- Testing
- MK-3475
- Where
- 3 sites in United States
- Volunteers
- 12 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Sarcoma, Gastrointestinal Stromal Tumors
Adjuvant Imatinib in High-risk Gastrointestinal Stromal Tumor (GIST) With C-kit Mutation
The presence of c-kit mutation is an independent poor prognostic factor for relapse in addition to large size (> 5 cm) and high mitotic rate (> 5/50 high power field [HPF]) in localized gastrointestinal stromal tumor (GIST)…
- Trial name
- NCT00278876
- Testing
- Imatinib mesylate (Glivec)
- Where
- 4 sites in South Korea
- Volunteers
- 47 people
- Sponsor
- Asan Medical Center
Cystic Fibrosis
Study of Ivacaftor in Cystic Fibrosis Subjects 2 Through 5 Years of Age With a CFTR Gating Mutation
The purpose of this study is to evaluate the safety, pharmacokinetics (PK), and pharmacodynamics (PD), of ivacaftor in children with cystic fibrosis (CF) who are 2 through 5 years of age and have a CF Transmembrane Conductance…
- Trial name
- NCT01705145
- Testing
- Ivacaftor
- Where
- 20 sites in United States, Canada and 1 more
- Volunteers
- 35 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Lung Neoplasms
LUX-Lung 7: A Phase IIb Trial of Afatinib(BIBW2992) Versus Gefitinib for the Treatment of 1st Line EGFR Mutation Positive Adenocarcinoma of the Lung
This is a randomised, open-label, phase IIb trial of afatinib to compare to gefitinib in first-line treatment setting with patients who are having epidermal growth factor receptor mutation positive advanced adenocarcinoma of the…
- Trial name
- NCT01466660
- Testing
- Afatinib, gefitinib
- Where
- 63 sites in Australia, Canada and 12 more
- Volunteers
- 319 people
- Sponsor
- Boehringer Ingelheim
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Phase 2B Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)
Duchenne/Becker muscular dystrophy (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
- NCT00847379
- Testing
- Ataluren
- Where
- 37 sites in United States, Australia and 9 more
- Volunteers
- 173 people
- Sponsor
- PTC Therapeutics
Pathologic Stage IIIB Cutaneous Melanoma AJCC v8, Pathologic Stage IIIC Cutaneous Melanoma AJCC v8
Dabrafenib, Trametinib, and Spartalizumab for the Treatment of BRAF V600E or V600K Mutation Positive Stage IIIB/C/D Melanoma
This phase II trial studies how well dabrafenib, trametinib, and spartalizumab works in treating patients with BRAF V600E or V600K mutation positive stage IIIB/C/D melanoma, who do not achieve a pathologic complete response after…
- Conditions
- Pathologic Stage IIIB Cutaneous Melanoma AJCC v8, Pathologic Stage IIIC Cutaneous Melanoma AJCC v8, Pathologic Stage IIID Cutaneous Melanoma AJCC v8
- Trial name
- NCT04310397
- Testing
- Dabrafenib, Spartalizumab, Therapeutic Conventional Surgery
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- M.D. Anderson Cancer Center
Anatomic Stage IV Breast Cancer AJCC v8, Metastatic HER2-Negative Breast Carcinoma
Testing the Use of Fulvestrant and Binimetinib Targeted Treatment for NF1 Mutation in Hormone Receptor-Positive Metastatic Breast Cancer (A ComboMATCH Treatment Trial)
This phase II ComboMATCH treatment trial compares the usual treatment alone (fulvestrant) to using binimetinib plus the usual treatment in patients with hormone receptor positive breast cancer that has spread from where it first…
- Conditions
- Anatomic Stage IV Breast Cancer AJCC v8, Metastatic HER2-Negative Breast Carcinoma, Metastatic Hormone Receptor-Positive Breast Carcinoma
- Trial name
- NCT05554354
- Testing
- Binimetinib, Biopsy Procedure, Biospecimen Collection
- Where
- 196 sites in United States, Puerto Rico
- Volunteers
- 1 people
- Sponsor
- National Cancer Institute (NCI)
Non Small Cell Lung Cancer
Stereotactic Radiosurgery or Other Local Ablation Then Erlotinib in Epidermal Growth Factor Receptor (EGFR)
Progression free survival after locally ablative therapy and erlotinib in EGFR patients progressed after EGFR-TKI therapy
- Trial name
- NCT01573702
- Testing
- Stereotactic Radiosurgery, Erlotinib
- Where
- 8 sites in United States
- Volunteers
- 32 people
- Sponsor
- UNC Lineberger Comprehensive Cancer Center
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
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
Neoplasms, Breast
Efficacy and Safety Comparison of Niraparib to Placebo in Participants With Human Epidermal Growth Factor 2 Negative (HER2-) Breast Cancer Susceptibility Gene Mutation (BRCAmut) or Triple-Negative Breast Cancer (TNBC) With Molecular Disease
This study will assess the efficacy and safety of Niraparib in participants with either tumor mutation in the BRCA gene (tBRCAmut) HER2- breast cancer (Independent of hormone receptor [HR] status, including HR positive [+] and…
- Trial name
- ZEST (NCT04915755)
- Testing
- Niraparib
- Where
- 198 sites in United States, Argentina and 25 more
- Volunteers
- 40 people
- Sponsor
- GlaxoSmithKline
Neoplasms, Colorectal Neoplasms
A Home-Based Approach Study to Evaluate the Efficacy and Safety of Alectinib in Locally-Advanced or Metastatic ALK-Positive Solid Tumors
This study will evaluate the efficacy and safety of alectinib in participants with Anaplastic Lymphoma Kinase (ALK)-positive locally advanced or metastatic solid tumors other than lung cancer.
- Conditions
- Neoplasms, Colorectal Neoplasms, Melanoma, Pancreatic Neoplasms
- Trial name
- ALpha-T (NCT04644315)
- Testing
- Alectinib
- Where
- 29 sites in United States
- Volunteers
- 1 people
- Sponsor
- Hoffmann-La Roche
Ovarian Cancer, Fallopian Tube Cancer
A Study of Oral Rucaparib in Patients With a Solid Tumor (Phase I) or With gBRCA Mutation Ovarian Cancer (Phase II)
Part 1 (Completed Enrollment) - The purpose of the first part of the study was to evaluate the safety of different doses and dosing regimens of oral rucaparib administered daily to patients with solid tumors.
- Conditions
- Ovarian Cancer, Fallopian Tube Cancer, Peritoneal Cancer, Advanced Solid Tumor With Evidence of Germline or Somatic BRCA
- Trial name
- NCT01482715
- Testing
- Rucaparib
- Where
- 16 sites in United States, Canada and 3 more
- Volunteers
- 136 people
- Sponsor
- pharmaand GmbH
Advanced Non-small Cell Lung Cancer
A Phase I/II, Multicenter, Open-label Study of EGFRmut-TKI EGF816, Administered Orally in Adult Patients With EGFRmut Solid Malignancies
This is a Phase I/II, multi-center, open-label study, composed with a Phase I part (dose-escalation phase) followed by a Phase II part (expansion phase).
- Trial name
- NCT02108964
- Testing
- EGF816
- Where
- 14 sites in United States, Canada and 7 more
- Volunteers
- 225 people
- Sponsor
- Novartis Pharmaceuticals
AMN, AMN Gene Mutation
A Study to Evaluate Administration of SBT101 Gene Therapy in Adult Patients With Adrenomyeloneuropathy (AMN)
This is a Phase 1/2 randomized, blinded, dose-escalation study to evaluate the safety and efficacy of intrathecal (IT) administration of SBT101, a recombinant adeno-associated virus serotype 9 (AAV9) containing a functional copy…
- Conditions
- AMN, AMN Gene Mutation, X-ALD
- Trial name
- PROPEL (NCT05394064)
- Testing
- SBT101 Treatment
- Where
- 2 sites in United States, Netherlands
- Volunteers
- 9 people
- Sponsor
- SwanBio Therapeutics, Inc.
Cystic Fibrosis
A Phase 3 Study of VX-445 Combination Therapy in Subjects With Cystic Fibrosis Heterozygous for the F508del Mutation and a Minimal Function Mutation (F/MF)
This study will evaluate the efficacy of VX-445 in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are heterozygous for F508del and a minimal function mutation (F/MF…
- Trial name
- NCT03525444
- Testing
- VX-445/TEZ/IVA, IVA
- Where
- 115 sites in United States, Australia and 11 more
- Volunteers
- 405 people
- Sponsor
- Vertex Pharmaceuticals Incorporated