Clinical trials: Genetic Mutation
Advanced Solid Tumors With Alterations of FGFR1, 2 and or 3, Squamous Lung Cancer With FGFR1 Amplification
A Dose Escalation Study in Adult Patients With Advanced Solid Malignancies
The study will determine the maximum tolerated dose and thus the recommended phase II dose and schedule of the compound and characterize the safety.
- Conditions
- Advanced Solid Tumors With Alterations of FGFR1, 2 and or 3, Squamous Lung Cancer With FGFR1 Amplification, Bladder Cancer With FGFR3 Mutation or Fusion, Advanced Solid Tumors With FGFR1 Amplication
- Trial name
- NCT01004224
- Testing
- BGJ398
- Where
- 50 sites in United States, Australia and 12 more
- Volunteers
- 208 people
- Sponsor
- Novartis Pharmaceuticals
Idiopathic Infantile Hypercalcaemia - Severe Form, Genetic Disease
Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
This study evaluates the efficacy of rifampin in the treatment of hypercalcemia and/or hypercalciuria in participants with at least one inactivating mutation of the CYP24A1 gene.
- Conditions
- Idiopathic Infantile Hypercalcaemia - Severe Form, Genetic Disease, Hypercalcemia, Idiopathic, of Infancy, Hypercalciuric Hypercalcemia
- Trial name
- RICHH (NCT03301038)
- Testing
- Rifampin
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Children's Hospital of Philadelphia
Cancer, Lung Cancer Metastatic
PDR001 in Patients With Non-small Cell Lung Cancer Harboring KRAS/NRAS Mutation or no Actionable Genetic Abnormalities
This study is a phase II, single-arm, open label study. All participating patients must sign on the written informed consent form, and a separate form of consent will be used for the use of tissue for the biomarker research.
- Conditions
- Cancer, Lung Cancer Metastatic, Immunotherapy
- Trial name
- NCT03693326
- Testing
- PDR001
- Where
- South Korea
- Volunteers
- 70 people
- Sponsor
- Asan Medical Center
SARS-CoV2 Infection, COVID-19 Acute Respiratory Distress Syndrome
Impact of COVID-19 SARS-CoV-2 Variability in ICU Hospitalized Patients With Severe Disease
Background:The impact of the emergence of SARS-CoV-2 variants on the severity and clinical outcomes of COVID-19 is controversial.
- Conditions
- SARS-CoV2 Infection, COVID-19 Acute Respiratory Distress Syndrome, Mutation
- Trial name
- SEVARVIR (NCT05162508)
- Testing
- Nasopharyngeal swab
- Where
- France
- Volunteers
- 2,000 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Schizophrenia, Chinese Han People
Mutation Screening and Translocation Detection of DISC1 Gene in Schizophrenia
Several chromosomal loci obtained from genetic linkage studies have been reported of relating to schizophrenia. These areas include of 1q32-41, 6p24-21, 8p22-21, 15q13-14, and 22q11-12.
- Trial name
- NCT00155818
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Duchenne Muscular Dystrophy, Exon 44
Study of AOC 1044 in Healthy Adult Volunteers and Participants With Duchenne Muscular Dystrophy (DMD) Mutations Amenable to Exon 44 Skipping
AOC 1044-CS1 (EXPLORE44) is a Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamic effects of single and multiple ascending doses of AOC 1044 in healthy adult volunteers and participants…
- Trial name
- EXPLORE44 (NCT05670730)
- Testing
- AOC 1044
- Where
- 10 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Avidity Biosciences, Inc.
Breast Carcinoma, Genetic Predisposition to Cancer
MEASUREMENT OF CIRCULATING MUTATION BURDEN
Cancer-free women with a hereditary predisposition to breast and/or ovarian cancer
- Conditions
- Breast Carcinoma, Genetic Predisposition to Cancer, BRCA Mutation, cfMB
- Trial name
- cRISK (NCT06792721)
- Testing
- Mutation Burden cfMB analysis
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Centre Francois Baclesse
Cystic Fibrosis
A Study of VX-121 Combination Therapy in Participants With Cystic Fibrosis (CF) Who Are Homozygous for F508del, Heterozygous for F508del and a Gating (F/G) or Residual Function (F/RF) Mutation, or Have At Least 1 Other Triple Combination Responsive (TCR) CFTR Mutation and No F508del Mutation
The purpose of this study is to evaluate the efficacy and safety of VX-121/tezacaftor/deutivacaftor (VX-121/TEZ/D-IVA) in CF participants who are homozygous for F508del, heterozygous for F508del and a gating (F/G) or residual…
- Trial name
- NCT05076149
- Testing
- VX-121/TEZ/D-IVA, ELX/TEZ/IVA, IVA
- Where
- 170 sites in United States, Australia and 18 more
- Volunteers
- 597 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Clear Cell Renal Cell Carcinoma, Locally Advanced Clear Cell Renal Cell Carcinoma
Testing AZD1775 in Advanced Solid Tumors That Have a Mutation Called SETD2
This phase II trial studies how well adavosertib works in treating patients with SETD2-deficient solid tumors that have spread to other places in the body (advanced/metastatic).
- Conditions
- Clear Cell Renal Cell Carcinoma, Locally Advanced Clear Cell Renal Cell Carcinoma, Locally Advanced Malignant Solid Neoplasm, Metastatic Malignant Solid Neoplasm
- Trial name
- NCT03284385
- Testing
- Adavosertib
- Where
- 29 sites in United States
- Volunteers
- 18 people
- Sponsor
- National Cancer Institute (NCI)
Isocitrate Dehydrogenase Gene Mutation
A Study of HMPL-306 in Advanced Hematological Malignancies With mIDH
An open label single-arm clinical trial to evaluate the safety, tolerability, PK, PD, and preliminary efficacy of HMPL-306 in subjects with advanced relapsed, refractory, or resistant hematological malignancies that harbor IDH…
- Trial name
- NCT04764474
- Testing
- HMPL-306
- Where
- 15 sites in United States, Spain
- Volunteers
- 46 people
- Sponsor
- Hutchmed
NSCLC
A Phase IIb Study of BPI-7711 Capsule in Non-small Cell Lung Cancer Patients With T790M Mutation Positive
A phase IIb, open-label, single-arm study to assess the safety and efficacy of BPI-7711 capsule in patients with metastatic or recurrent non-small cell lung cancer with EGFR mutation and T790M mutation positive.
- Trial name
- NCT03812809
- Testing
- BPI-7711
- Where
- 3 sites in China
- Volunteers
- 226 people
- Sponsor
- Beta Pharma Shanghai
NSCLC Patients With Brain Metastasis
A Study Evaluating Furmonertinib Plus Platinum-based Doublet Chemotherapy Versus Osimertinib in Patients With Epidermal Growth Factor Receptor (EGFR) Sensitizing Mutation-Positive Non-squamous Non-Small Cell Lung Cancer (NSCLC) and Brain Metastases
This study is a Phase III, international, multicenter, randomized, controlled, open-label clinical trial. The primary objective is to evaluate the efficacy and safety of furmonertinib plus platinum-based doublet chemotherapy (Arm…
- Trial name
- NCT06970639
- Testing
- Furmonertinib Mesilate Tablets, Carboplatin Injection, Cisplatin for injection
- Where
- China
- Volunteers
- 380 people
- Sponsor
- Allist Pharmaceuticals, Inc.
Cancer, Lung Cancer Metastatic
Capmatinib in Patients With Non-small Cell Lung Cancer Harboring cMET exon14 Skipping Mutation
This study is a phase II, single-arm, open label study under an umbrella trial for NSCLC. This clinical study is targeted for the patients who harbor exon 14 skipping mutation of MET and all patients will be treated with…
- Conditions
- Cancer, Lung Cancer Metastatic, MET Gene Mutation
- Trial name
- NCT03693339
- Testing
- Capmatinib
- Where
- South Korea
- Volunteers
- 27 people
- Sponsor
- Asan Medical Center
Metastatic Colorectal Cancer, Metastatic Pancreatic Ductal Adenocarcinoma
A Study of ERAS-007 in Patients With Advanced Gastrointestinal Malignancies
To evaluate the safety and tolerability of escalating doses of ERAS-007 in combination with other cancer therapies in study participants with advanced GI malignancies.
- Trial name
- HERKULES-3 (NCT05039177)
- Testing
- ERAS-007, Encorafenib, Cetuximab
- Where
- 14 sites in United States
- Volunteers
- 101 people
- Sponsor
- Erasca, Inc.
Muscular Dystrophy, Duchenne, DMD
The Expanded Access Use of Viltolarsen in Duchenne Muscular Dystrophy With Confirmed Exon 53 Amenable Mutation
This is an open label expanded access program for boys, 3 to 12 years old, for the treatment of Duchenne muscular dystrophy (DMD) with confirmed mutation(s) in the dystrophin gene that is amenable to skipping of exon 53.
- Trial name
- NCT04337112
- Testing
- viltolarsen
- Sponsor
- NS Pharma, Inc.
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
A Possible Founding PKD2 Mutation Associated With Variable Phenotypes of ADPKD in Bergamo Province
This is an observational study aimed at assessing if a new and specific heterozygous deletion detected at PKD2 gene is associated to a "founder effect" in 10 Autosomal dominant polycystic kidney disease (ADPKD) patients, and at…
- Trial name
- POPULAR (NCT06594367)
- Where
- Italy
- Volunteers
- 10 people
- Sponsor
- Mario Negri Institute for Pharmacological Research
Melanoma
Leflunomide+Vemurafenib in V600 Mutant Met. Melanoma
This research study was intended to be a Phase I/II clinical trial, but the trial was terminated before the phase 1 portion was completed. Phase I clinical trials test the safety of an investigational combination of drugs.
- Trial name
- NCT01611675
- Testing
- Vemurafenib, Leflunomide
- Where
- 3 sites in United States
- Volunteers
- 3 people
- Sponsor
- Massachusetts General Hospital
NSCLC, EGFR Gene Mutation
Efficacy and Safety of Neoantigen Peptide Vaccine in the Treatment of Advanced NSCLC Progressed After EGFR-TKI Treatment
To evaluate the efficacy (ORR) and safety of anti PD-1 monoclonal antibody combined with neoantigen peptide vaccine and chemotherapy in the treatment of advanced NSCLC progressed after EGFR-TKI treatment and to provide new…
- Trial name
- NCT06095934
- Testing
- neo-antigen vaccine
- Where
- China
- Volunteers
- 20 people
- Sponsor
- The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School
Prostate Cancer, CDK12 Gene Mutation
RC48 Monotherapy or Combination With Envafolimab for CDK12 Alterations mCRPC With Standard Treatment Failure
The aim of this study is to evaluate the efficacy and safety of vediximab monotherapy or in combination with enrolizumab for second-line treatment of CDK12 alterations mCRPC that has failed standard therapy.
- Trial name
- NCT06663007
- Testing
- RC48, Envafolimab
- Where
- China
- Volunteers
- 72 people
- Sponsor
- Tianjin Medical University Second Hospital
DDR Gene Mutation, Metastatic Solid Tumor
A Phase II Study of Nivolumab in Patients With Genetic Alterations in DNA Damage Repair and Response Who Progressed After Standard Treatment for Metastatic Solid Cancers
A Phase II Study of Nivolumab in Patients with Genetic alterations in DNA Damage repair and response Who Progressed after Standard treatment for Metastatic Solid Cancers
- Trial name
- NCT04761744
- Testing
- Nivolumab
- Where
- 2 sites in South Korea
- Volunteers
- 48 people
- Sponsor
- Korean Cancer Study Group
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