Clinical trials: Genetic Mutation
Duchenne Muscular Dystrophy
Phase 2a Extension Study of Ataluren (PTC124) in Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy (DMD) 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
- NCT00759876
- Testing
- Ataluren
- Where
- 3 sites in United States
- Volunteers
- 36 people
- Sponsor
- PTC Therapeutics
Ovarian, Breast
Open Label Study to Assess Efficacy and Safety of Olaparib in Confirmed Genetic BRCA1 or BRCA2 Mutation Pats
To assess the efficacy of oral olaparib in patients with advanced cancer who have a confirmed genetic BRCA1 and/or BRCA2 mutation, by assessment of tumour response
- Conditions
- Ovarian, Breast, Prostate, Pancreatic
- Trial name
- NCT01078662
- Testing
- olaparib
- Where
- 14 sites in United States, Australia and 4 more
- Volunteers
- 298 people
- Sponsor
- AstraZeneca
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Testing AZD5363 as a Potential Targeted Treatment in Cancers With AKT Genetic Changes (MATCH-Subprotocol Y)
This phase II MATCH treatment trial identifies the effects of AZD5363 in patients whose cancer has a genetic change called AKT mutation. AZD5363 may block AKT, which is a protein needed for cancer cell growth.
- Conditions
- Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Hematopoietic and Lymphoid Cell Neoplasm, Refractory Lymphoma
- Trial name
- NCT04439123
- Testing
- Capivasertib
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- National Cancer Institute (NCI)
Fabry Disease
Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease
Study to compare the efficacy and safety of migalastat and enzyme replacement therapy (ERT) in male and female participants with Fabry disease who are currently receiving ERT and who have an alpha galactosidase-A (α Gal-A)…
- Trial name
- NCT01218659
- Testing
- migalastat hydrochloride, agalsidase
- Where
- 25 sites in United States, Australia and 8 more
- Volunteers
- 68 people
- Sponsor
- Amicus Therapeutics
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
Leukemia, Myeloid, Acute
A Study to Assess the Safety and Efficacy of Two Combinations of Isocitrate Dehydrogenase (IDH) Mutant Targeted Therapies Plus Azacitidine in Participants With Newly Diagnosed Acute Myeloid Leukemia (AML) Harboring IDH Mutations Who Are Not Candidates to Receive Intensive Induction Chemotherapy
The purpose of this study are 1. to determine the recommended combination dose of AG-120 and AG-221 separately when administered with azacitidine and, 2.
- Trial name
- NCT02677922
- Testing
- AG-120, Azacitidine, AG-221
- Where
- 49 sites in United States, Australia and 12 more
- Volunteers
- 130 people
- Sponsor
- Celgene
Hematologic Neoplasms
Phase 1/2 Study of Enasidenib (AG-221) in Adults With Advanced Hematologic Malignancies With an Isocitrate Dehydrogenase Isoform 2 (IDH2) Mutation
The primary objectives of Phase 1 Dose Escalation/Part 1 Expansion are: To assess the safety and tolerability of treatment with enasidenib administered continuously as a single agent dosed orally on Days 1 to 28 of a 28-day cycle…
- Trial name
- NCT01915498
- Testing
- Enasidenib
- Where
- 24 sites in United States, France
- Volunteers
- 345 people
- Sponsor
- Celgene
Malignant Melanoma
A Study of Vemurafenib (Zelboraf) in Chinese Participants With BRAF V600 Mutation-Positive Unresectable or Metastatic Melanoma
This open-label, multicenter study will evaluate the pharmacokinetics, safety and efficacy of vemurafenib in Chinese participants with BRAF V600 mutation-positive unresectable or metastatic melanoma.
- Trial name
- NCT01910181
- Testing
- Vemurafenib
- Where
- 2 sites in China
- Volunteers
- 46 people
- Sponsor
- Hoffmann-La Roche
Early Breast Cancer
Talazoparib For Neoadjuvant Treatment Of Germline BRCA1/2 Mutation Patients With Early Human Epidermal Growth Factor Receptor 2 Negative Breast Cancer
A PHASE 2, NON RANDOMIZED, OPEN LABEL, SINGLE ARM, MULTI CENTER STUDY OF TALAZOPARIB FOR NEOADJUVANT TREATMENT OF GERMLINE BRCA1/2 MUTATION PATIENTS WITH EARLY HUMAN EPIDERMAL GROWTH FACTOR RECEPTOR 2 NEGATIVE BREAST CANCER
- Trial name
- NCT03499353
- Testing
- TALAZOPARIB
- Where
- 97 sites in United States
- Volunteers
- 61 people
- Sponsor
- Pfizer
Choroideremia, CHM (Choroideremia) Gene Mutations
Safety and Dose-escalation Study of AAV2-hCHM in Participants With CHM (Choroideremia) Gene Mutations
This clinical study evaluates the safety and tolerability of AAV2-hCHM in participants with Choroideremia gene mutations.
- Trial name
- NCT02341807
- Testing
- AAV2-hCHM
- Where
- 3 sites in United States
- Volunteers
- 15 people
- Sponsor
- Spark Therapeutics, Inc.
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome
Phosphatase and TENsin homolog (PTEN) gene germline mutations are associated with a spectrum of clinical manifestations characterized by neurocognitive deficits, intellectual disability, autism symptomatology, skin lesions…
- Trial name
- NCT02991807
- Testing
- RAD001
- Where
- 3 sites in United States
- Volunteers
- 46 people
- Sponsor
- Boston Children's Hospital
Breast Cancer, Pain, Postoperative
Botulinum Toxin A (Botox) in Tissue Expander Breast Reconstruction
Each year, the number of breast cancer survivors who choose post-mastectomy breast reconstruction keeps rising. Among women who elect to pursue breast reconstruction, approximately 75% will choose prosthetic breast…
- Conditions
- Breast Cancer, Pain, Postoperative, BRCA1 Mutation, BRCA2 Mutation
- Trial name
- NCT01591746
- Testing
- Botulinum Toxin Type A
- Where
- United States
- Volunteers
- 131 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Carcinoma, Non-Small-Cell Lung
Study of Capmatinib Efficacy in Comparison With Docetaxel in Previously Treated Participants With Non-small Cell Lung Cancer Harboring MET Exon 14 Skipping Mutation
The purpose of the study was to learn whether the study drug (capmatinib) helps to control lung cancer better compared to a single agent chemotherapy (docetaxel) and whether it is safe when given to patients suffering from a…
- Trial name
- GeoMETry-III (NCT04427072)
- Testing
- Capmatinib, Docetaxel
- Where
- 43 sites in Belgium, Brazil and 16 more
- Volunteers
- 22 people
- Sponsor
- Novartis Pharmaceuticals
Familial Amyotrophic Lateral Sclerosis
SOD1 Inhibition by Pyrimethamine in Familial Amyotrophic Lateral Sclerosis (ALS)
The objective of this study will be to evaluate the safety, tolerability and effect on SOD1 levels by pyrimethamine in patients with familial amyotrophic lateral sclerosis.
- Trial name
- NCT01083667
- Testing
- Pyrimethamine
- Where
- 5 sites in United States, Germany and 2 more
- Volunteers
- 32 people
- Sponsor
- Weill Medical College of Cornell University
Cystic Fibrosis
A Study to Evaluate Safety, Efficacy, and Tolerability of TEZ/IVA in Orkambi® (Lumacaftor/Ivacaftor) -Experienced Subjects With Cystic Fibrosis (CF)
Study VX16-661-114 (Study 114) is a Phase 3b, randomized, double-blind, placebo-controlled, parallel-group, multicenter study in subjects aged 12 years and older with CF who are homozygous for the F508del mutation on the cystic…
- Trial name
- NCT03150719
- Testing
- Tezacaftor/Ivacaftor, Ivacaftor
- Where
- 53 sites in United States, France and 1 more
- Volunteers
- 98 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
LMNA-Related Dilated Cardiomyopathy
A Rollover Study of ARRY-371797 in Patients With LMNA-Related Dilated Cardiomyopathy
This is a rollover study designed to investigate the safety and effectiveness of investigational study drug ARRY-371797 in patients who previously received ARRY-371797 in a study for patients with LMNA-related dilated…
- Trial name
- NCT02351856
- Testing
- ARRY-371797, p38 inhibitor, oral
- Where
- 4 sites in United States
- Volunteers
- 8 people
- Sponsor
- Pfizer
BRAF V600E Unresectable or Metastatic Melanoma, BRAF V600E Metastatic NSCLC
Phase 1 Safety Study of Encorafenib in Chinese Patients With Advanced Metastatic BRAF V600E Mutant Solid Tumors
This is a phase 1, multicenter, open-label, single-arm study to investigate the safety and tolerability of encorafenib 300 mg once daily (QD) monotherapy in adult Chinese participants with B-RAF Proto-oncogene, Serine/threonine…
- Conditions
- BRAF V600E Unresectable or Metastatic Melanoma, BRAF V600E Metastatic NSCLC, Melanoma
- Trial name
- OCEANI (NCT05003622)
- Testing
- Encorafenib
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Pierre Fabre Medicament
Lung Cancer
Real World Treatment Study of AZD9291 for Advanced/Metastatic EGFR T790M Mutation NSCLC
The aim of this study is to assess the efficacy and safety of single agent AZD9291 in a real world setting in adult patients with advanced or metastatic, epidermal growth factor receptor (EGFR) T790M mutation-positive Non-Small…
- Trial name
- ASTRIS (NCT02474355)
- Testing
- T790M+ Testing, Baseline Visit Blood & Urine Testing, Baseline ECG
- Where
- 201 sites in Argentina, Australia and 14 more
- Volunteers
- 3,017 people
- Sponsor
- AstraZeneca
Metastatic Colorectal Cancer, KRAS Gene Mutation
Onvansertib in Combination With FOLFIRI and Bevacizumab for Second Line Treatment of Metastatic Colorectal Cancer Patients With a KRAS Mutation
The purpose of the Phase 1b/2 study is to determine the safety and efficacy of Onvansertib, administered orally, daily on Day 1-5 and Day 15-19 of each 28-day cycle, in combination with FOLFIRI + Bevacizumab, as second-line…
- Trial name
- NCT03829410
- Testing
- Onvansertib, Bevacizumab, FOLFIRI
- Where
- 7 sites in United States
- Volunteers
- 68 people
- Sponsor
- Cardiff Oncology
Heterozygous Familial Hypercholesterolemia
Trial Assessing Efficacy, Safety and Tolerability of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Inhibition in Paediatric Subjects With Genetic Low-Density Lipoprotein (LDL) Disorders
A study to assess safety and efficacy of evolocumab (AMG-145) in paediatric subjects aged 10-17 years diagnosed with heterozygous familial hypercholesterolemia.
- Trial name
- HAUSER-RCT (NCT02392559)
- Testing
- Evolocumab
- Where
- 66 sites in United States, Australia and 24 more
- Volunteers
- 158 people
- Sponsor
- Amgen