Clinical trials: Mutations
Amino Acid Metabolism, Inborn Errors
Ataluren for Nonsense Mutation Methylmalonic Acidemia
Methylmalonic acidemia (MMA) is a rare genetic disorder caused by mutations in the gene for mitochondrial enzyme methylmalonyl-CoA mutase (MCM) or in one of the genes for adenosylcobalamin (AdoCbl).
- Trial name
- NCT01141075
- Testing
- Ataluren
- Where
- 9 sites in Belgium, France and 4 more
- Volunteers
- 11 people
- Sponsor
- PTC Therapeutics
Non-small Cell Lung Cancer
A Phase 1b/2 Study of Safety and Efficacy of Rociletinib in Combination With MPDL3280A in Patients With Advanced or Metastatic EGFR-mutant NSCLC
This clinical research study is being carried out in two parts, Phase 1 and Phase 2. The primary purpose of the Phase 1 portion of the study is to observe the safety of the combination of rociletinib and MPDL3280A in EGFR-mutant…
- Trial name
- NCT02630186
- Testing
- Rociletinib, MPDL3280A
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Clovis Oncology, Inc.
Carcinoma, Non-Small-Cell Lung
Study of Oral cMET Inhibitor INC280 in Patients With EGFR Wild-type (wt), Advanced Non-small Cell Lung Cancer (NSCLC) (Geometry Mono-1)
Study to evaluate the efficacy and safety of capmatinib as a single-agent treatment for subjects with advanced/metastatic (stage IIIB or IV) non-small cell lung cancer (NSCLC) who had wild-type epidermal growth factor receptor…
- Trial name
- NCT02414139
- Testing
- Capmatinib
- Where
- 95 sites in United States, Argentina and 18 more
- Volunteers
- 373 people
- Sponsor
- Novartis Pharmaceuticals
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
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
Acute Myeloid Leukemia, Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome
Using the Anticancer Drug Olaparib to Treat Relapsed/Refractory Acute Myeloid Leukemia or Myelodysplastic Syndrome With an Isocitrate Dehydrogenase (IDH) Mutation
This phase II trial studies how well olaparib works in treating patients with acute myeloid leukemia that has come back (relapsed) or does not respond to treatment (refractory), or myelodysplastic syndrome.
- Conditions
- Acute Myeloid Leukemia, Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome, Acute Myeloid Leukemia Post Cytotoxic Therapy, Recurrent Acute Myeloid Leukemia
- Trial name
- NCT03953898
- Testing
- Biospecimen Collection, Bone Marrow Aspiration, Olaparib
- Where
- 11 sites in United States
- Volunteers
- 14 people
- Sponsor
- National Cancer Institute (NCI)
Non Small Cell Lung Cancer
Phase 2 Study of AUY922 in NSCLC Patients With Exon 20 Insertion Mutations in EGFR
This research study is a Phase II clinical trial, which tests the safety and effectiveness of an investigational drug to learn whether the drug works in treating a specific cancer.
- Trial name
- NCT01854034
- Testing
- AUY922
- Where
- 4 sites in United States
- Volunteers
- 29 people
- Sponsor
- Massachusetts General Hospital
FGFR1 Gene Amplification, FGFR1 Gene Mutation
Pemigatinib for the Treatment of Metastatic or Unresectable Colorectal Cancer Harboring FGFR Alterations
This phase II trial studies how well pemigatinib works in treating patients with colorectal cancer with mutations (alterations) in a FGFR gene and that has spread to other places in the body (metastatic) or cannot be removed by…
- Conditions
- FGFR1 Gene Amplification, FGFR1 Gene Mutation, FGFR1 Gene Translocation, FGFR2 Gene Amplification
- Trial name
- NCT04096417
- Testing
- Pemigatinib, Quality-of-Life Assessment
- Where
- 6 sites in United States
- Volunteers
- 14 people
- Sponsor
- Academic and Community Cancer Research United
Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Gene Mutations
Reduced-Intensity Conditioning Before Donor Stem Cell Transplant in With High-Risk Hematologic Malignancies
This phase II trial studies reduced-intensity conditioning before donor stem cell transplant in treating patients with high-risk hematologic malignancies.
- Conditions
- Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Gene Mutations, Acute Myeloid Leukemia With Inv(3) (q21.3;q26.2); GATA2, MECOM, Acute Myeloid Leukemia With t(6;9) (p23;q34.1); DEK-NUP214
- Trial name
- NCT01760655
- Testing
- Fludarabine phosphate, Busulfan, Total-Body Irradiation
- Where
- United States
- Volunteers
- 62 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Thomas Jefferson University
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
Non-small Cell Lung Cancer
VIC-1911 Monotherapy in Combination With Sotorasib for the Treatment of KRAS G12C-Mutant Non-Small Cell Lung Cancer
This is a Phase 1a/1b study of aurora kinase A inhibitor VIC-1911 administered as monotherapy and in combination with sotorasib for the treatment of locally advanced or metastatic KRAS G12C-mutant non-small cell lung…
- Trial name
- NCT05374538
- Testing
- VIC-1911, sotorasib
- Where
- 5 sites in United States
- Volunteers
- 3 people
- Sponsor
- Vitrac Therapeutics, LLC
Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation
Rucaparib in Treating Patients With Genomic LOH High and/or Deleterious BRCA1/2 Mutation Stage IV or Recurrent Non-small Cell Lung Cancer (A Lung-MAP Treatment Trial)
This phase II Lung-MAP trial studies how well rucaparib works in treating patients with genomic loss of heterozygosity (LOH) high and/or deleterious BRCA1/2 mutation stage IV non-small cell lung cancer or that has come back.
- Conditions
- Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation, Loss of Heterozygosity, Lung Non-Small Cell Squamous Carcinoma
- Trial name
- NCT03845296
- Testing
- Rucaparib
- Where
- 950 sites in United States
- Volunteers
- 64 people
- Sponsor
- SWOG Cancer Research Network
Locally Advanced Pancreatic Adenocarcinoma, Metastatic Pancreatic Adenocarcinoma
Gemcitabine Hydrochloride and Cisplatin With or Without Veliparib or Veliparib Alone in Treating Patients With Locally Advanced or Metastatic Pancreatic Cancer
This randomized phase II trial studies how well veliparib together with gemcitabine hydrochloride and cisplatin works compared to gemcitabine hydrochloride and cisplatin alone in treating patients with pancreatic cancer that has…
- Conditions
- Locally Advanced Pancreatic Adenocarcinoma, Metastatic Pancreatic Adenocarcinoma, Stage III Pancreatic Cancer AJCC v8, Stage IV Pancreatic Cancer AJCC v8
- Trial name
- NCT01585805
- Testing
- Biopsy Procedure, Biospecimen Collection, Cisplatin
- Where
- 12 sites in United States, Canada and 1 more
- Volunteers
- 83 people
- Sponsor
- National Cancer Institute (NCI)
Breast Adenocarcinoma, Deleterious BRCA1 Gene Mutation
Talazoparib Before Standard Therapy in Treating Patients With Invasive, BRCA-Mutated Breast Cancer
This phase II trial studies the side effects of talazoparib when given before standard therapy in treating patients with breast cancer that has spread to nearby healthy tissue and has a mutation in a breast cancer, early onset…
- Conditions
- Breast Adenocarcinoma, Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation, HER2/Neu Negative
- Trial name
- NCT02282345
- Testing
- Laboratory Biomarker Analysis, Talazoparib
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- M.D. Anderson Cancer Center
Duchenne Muscular Dystrophy
A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
This study is designed to evaluate the ability of ataluren to increase dystrophin protein levels in muscle cells of participants with nmDMD.
- Trial name
- NCT03648827
- Testing
- Ataluren
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- PTC Therapeutics
BRCA1 Gene Mutation, BRCA2 Gene Mutation
Pembrolizumab in Treating Participants With Metastatic, Recurrent or Locally Advanced Cancer and Genomic Instability
This phase II trial studies how well pembrolizumab works in treating participants with cancer that has spread to other places in the body, has come back or has spread to nearby tissues or lymph nodes.
- Conditions
- BRCA1 Gene Mutation, BRCA2 Gene Mutation, Locally Advanced Solid Neoplasm, Metastatic Malignant Solid Neoplasm
- Trial name
- NCT03428802
- Testing
- Laboratory Biomarker Analysis, Pembrolizumab
- Where
- 2 sites in United States
- Volunteers
- 21 people
- Sponsor
- Rutgers, The State University of New Jersey
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
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
Retinitis Pigmentosa
A Study in Subjects With Retinitis Pigmentosa
An open-label Phase II clinical trial, 8 (eight) subjects with retinitis pigmentosa due to rhodopsin mutations (including P23H) will be identified and treated with serial intravitreal injections of ADX-2191 in the worse seeing…
- Trial name
- NCT05392179
- Testing
- ADX-2191
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Aldeyra Therapeutics, Inc.
NLRC4-MAS, XIAP Deficiency
Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency
This is a Phase 3 study to assess the safety and efficacy of Tadekinig alfa in patients with monogenic, interleukin-18 (IL 18) driven autoinflammation due to Nucleotide-binding oligomerization domain, leucine-rich repeat and…
- Trial name
- NCT03113760
- Testing
- Tadekinig alfa, 0.9% sodium chloride
- Where
- 9 sites in United States, Canada and 1 more
- Volunteers
- 15 people
- Sponsor
- AB2 Bio Ltd.