Clinical trials: Genetic Mutations
Non-Small Cell Lung Cancer
A Study to Evaluate the Efficacy and Safety of Multiple Targeted Therapies as Treatments for Participants With Non-Small Cell Lung Cancer (NSCLC)
This is a phase 2/3, global, multicenter, open-label, multi-cohort study designed to evaluate the safety and efficacy of targeted therapies or immunotherapy as single agents or in combination in participants with unresectable…
- Trial name
- B-FAST (NCT03178552)
- Testing
- Alectinib, Atezolizumab, Pemetrexed
- Where
- 161 sites in United States, Argentina and 25 more
- Volunteers
- 1,000 people
- Sponsor
- Hoffmann-La Roche
NSCLC
Neratinib Tablets in the Treatment of Advanced NSCLC With Rare EGFR Mutations
Single-arm, open-label, multicenter phase II clinical study
- Trial name
- CVL009-2001 (NCT06029816)
- Testing
- Neratinib tablets
- Where
- China
- Volunteers
- 42 people
- Sponsor
- Convalife (Shanghai) Co., Ltd.
Chronic Myelomonocytic Leukemia, Myelodysplastic Syndrome
Azacitidine and Quizartinib for the Treatment of Myelodysplastic Syndrome or Myelodysplastic/Myeloproliferative Neoplasm With FLT3 or CBL Mutations
This phase I/II trial studies the side effects and best dose of quizartinib when given with azacitidine and to see how well they work in treating patients with myelodysplastic syndrome or myelodysplastic/myeloproliferative…
- Conditions
- Chronic Myelomonocytic Leukemia, Myelodysplastic Syndrome, Myeloproliferative Neoplasm, Recurrent Chronic Myelomonocytic Leukemia
- Trial name
- NCT04493138
- Testing
- Azacitidine, Quizartinib
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- M.D. Anderson Cancer Center
Breast Cancer, Ovarian Cancer
Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation
Despite relevant clinical and/or familial presentations suggesting a hereditary predisposition (early-onset, multiple primary tumors, familial aggregation), targeted genomic analysis based on the phenotype are often non…
- Conditions
- Breast Cancer, Ovarian Cancer, Colorectal Cancer, Pediatric Cancers
- Trial name
- PANEL (NCT02664389)
- Testing
- Genetic analysis
- Where
- France
- Volunteers
- 289 people
- Sponsor
- University Hospital, Rouen
Non Small Cell Lung Cancer, Medullary Thyroid Cancer
Study of TPX-0046, A RET/SRC Inhibitor in Adult Subjects With Advanced Solid Tumors Harboring RET Fusions or Mutations
A phase 1/2, first-in-human, open-label study to determine the safety, tolerability, PK, and preliminary efficacy of the novel RET/SRC inhibitor TPX-0046 in adult subjects with advanced or metastatic solid tumors harboring RET…
- Conditions
- Non Small Cell Lung Cancer, Medullary Thyroid Cancer, RET Gene Mutation, Metastatic Solid Tumor
- Trial name
- NCT04161391
- Testing
- TPX-0046
- Where
- 21 sites in United States, South Korea
- Volunteers
- 41 people
- Sponsor
- Turning Point Therapeutics, Inc.
HIV, Pregnancy
Maternal TDF and FTC to Reduce NNRTI Resistance Mutations After Intrapartum NVP
The purpose of this study is to determine whether the addition of tenofovir (TDF) and emtricitabine (FTC)to a standard PMTCT regimen containing single-dose nevirapine (NVP) can reduce the development of post-ingestion HIV…
- Trial name
- TD-2 (NCT00204308)
- Testing
- Combination tenofovir-emtricitabine
- Where
- 2 sites in Zambia
- Volunteers
- 400 people
- Sponsor
- University of North Carolina, Chapel Hill
Episodic Ataxia Type 2
4-Aminopyridine in Episodic Ataxia Type 2
Episodic ataxia type 2 (EA2) is a rare familial neurological condition characterized by debilitating episodes of vertigo and imbalance.
- Trial name
- 4AP in EA2 (NCT01543750)
- Testing
- 4-Aminopyridine
- Where
- 3 sites in United States
- Sponsor
- University of California, Los Angeles
Cystic Fibrosis
Study of Ivacaftor in Cystic Fibrosis Subjects Aged 6 to 11 Years With the G551D Mutation
The purpose of this study was to evaluate the efficacy and safety of ivacaftor in subjects with cystic fibrosis aged 6 to 11 years who have the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR)…
- Trial name
- ENVISION (NCT00909727)
- Testing
- Ivacaftor
- Where
- 29 sites in United States, Australia and 5 more
- Volunteers
- 52 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Hereditary Hypotrichosis Simplex
Efficacy of Topical Gentamycin for Hereditary Hypotrichosis Simplex Caused by Nonsense Mutations in CDSN
The scalp-limited for of hereditary hypotrichosis simplex (HHS; MIM146520) is an autosomal dominant form of non-syndromic alopecia which is caused by heterozygous nonsense mutations in the CDSN gene, encoding corneodesmosin (1).
- Trial name
- NCT03492866
- Testing
- Gentamicin Sulfate
- Volunteers
- 8 people
- Sponsor
- Tel-Aviv Sourasky Medical Center
Lung Cancer
Studying Tumor Tissue Samples and Blood Samples to Learn More About DNA Changes in Patients With Lung Cancer
RATIONALE: Studying samples of tumor tissue and blood from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT00899405
- Where
- United States
- Volunteers
- 800 people
- Sponsor
- University of California, Davis
Non-small Cell Lung Cancer (NSCLC)
A Study of ASP8273 vs. Erlotinib or Gefitinib in First-line Treatment of Patients With Stage IIIB/IV Non-small Cell Lung Cancer Tumors With EGFR Activating Mutations
The purpose of the study was to evaluate the progression free survival (PFS), based on independent radiologic review (IRR), of ASP8273 compared to erlotinib or gefitinib in patients with locally advanced, metastatic or…
- Trial name
- SOLAR (NCT02588261)
- Testing
- naquotinib mesilate, Erlotinib, Gefitinib
- Where
- 167 sites in United States, Australia and 21 more
- Volunteers
- 530 people
- Sponsor
- Astellas Pharma Global Development, Inc.
Cystic Fibrosis
Rollover Study to Evaluate the Safety and Efficacy of Long-term Treatment With Lumacaftor in Combination With Ivacaftor
Study 110 is a Phase 3, multicenter study in subjects aged 6 years and older with cystic fibrosis (CF) who are homozygous for the F508del-CF transmembrane conductance regulator (CFTR) mutation and who participated in Study 109…
- Trial name
- NCT02544451
- Testing
- LUM/IVA
- Where
- 60 sites in United States, Australia and 7 more
- Volunteers
- 246 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cancer
Clinical Validation of the Role of microRNA Binding Site Mutations in Cancer Risk, Prevention and Treatment
The investigators will recruit and enroll individuals that may have the KRAS-variant or other microRNA binding site mutations to join registry studies.
- Trial name
- NCT02253251
- Testing
- KRAS-variant and microRNA binding site mutation testing
- Where
- United States
- Volunteers
- 15,000 people, healthy volunteers welcome
- Sponsor
- MiraKind
Solid Tumors (Phase 1), RAS Mutation
Evaluation of RAS Inhibitor Treatment in Participants With Advanced or Metastatic Solid Tumors Harboring RAS Mutations
The goal of this clinical trial is to learn determine if AN9025 is safe and tolerable to treat solid cancer tumors with specific genetic mutations.
- Trial name
- NCT07252479
- Testing
- AN9025 oral capsule
- Where
- 3 sites in United States
- Volunteers
- 118 people
- Sponsor
- Adlai Nortye Biopharma Co., Ltd.
Genetics
Parental Irradiation of Ukrainian Cleanup Workers and Evacuees and Germline Mutations in Their Offspring (Trio Study)
Data on transgenerational effects following nuclear accidents are important for understanding fully the consequences of parental exposure to ionizing radiation.
- Trial name
- NCT02566161
- Where
- Ukraine
- Volunteers
- 957 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Junctional Epidermolysis Bullosa
Optimizing IV Gentamicin in JEB
Herlitz junctional epidermolysis bullosa (H-JEB), an incurable and fatal inherited skin disease, is caused by loss-of-function mutations in LAMA3, LAMB3 and LAMC2.
- Trial name
- NCT04140786
- Testing
- Gentamicin Sulfate, Injectable
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Southern California
OPA1 Gene Mutation, Optic Atrophy, Autosomal Dominant
A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
This prospective, monocenter, non-interventional observational study investigates the natural history as well as the clinical and genetic spectrum of OPA1-associated autosomal dominant optic atrophy.
- Trial name
- OPA-LONG (NCT07729982)
- Where
- Germany
- Volunteers
- 50 people
- Sponsor
- Ludwig-Maximilians - University of Munich
KRAS NP_004976.2:p.G12R, Stage III Pancreatic Cancer AJCC v6 and v7
Selumetinib Sulfate in Treating Patients With Locally Advanced or Metastatic Pancreatic Cancer With KRAS G12R Mutations
This phase II trial studies how well selumetinib sulfate works in treating patients with pancreatic cancer with Kirsten rat sarcoma (KRAS) G12R mutations that has spread from where it started to nearby tissue or lymph nodes or…
- Conditions
- KRAS NP_004976.2:p.G12R, Stage III Pancreatic Cancer AJCC v6 and v7, Stage IV Pancreatic Cancer AJCC v6 and v7
- Trial name
- NCT03040986
- Testing
- Laboratory Biomarker Analysis, Selumetinib Sulfate
- Where
- 9 sites in United States
- Volunteers
- 8 people
- Sponsor
- National Cancer Institute (NCI)
Muscular Dystrophy, Duchenne
Registry of Translarna (Ataluren) in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
This study is being performed as a post-approval safety study (PASS), per the Pharmacovigilance Risk Assessment Committee (PRAC) of the European Medicines Agency (EMA), to gather data on Translarna (ataluren) safety…
- Trial name
- NCT02369731
- Where
- 71 sites in Austria, Brazil and 14 more
- Volunteers
- 316 people
- Sponsor
- PTC Therapeutics
X-linked Hypophosphatemia
Study of the Anti-FGF23 Antibody, Burosumab, in Adults With XLH
This is phase 3b open-label, international, multicenter study to continue to monitor the long-term safety and efficacy of burosumab in adult patients with XLH that participated in previous clinical trials with burosumab…
- Trial name
- NCT03920072
- Testing
- Burosumab
- Where
- 10 sites in France, Ireland and 2 more
- Volunteers
- 35 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
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