Clinical trials: Gene Mutations
Acute Pancreatitis
The Association Between Post-ERCP Acute Pancreatitis and Various Genetic Mutations
Pancreatitis remains the most common complication of ERCP, with the reported incidence ranging from 2% to 9%. Although 80% of cases are mild, a significant number of patients may develop severe pancreatitis, that means additional…
- Trial name
- NCT02928718
- Testing
- ERCP
- Where
- South Korea
- Volunteers
- 75 people
- Sponsor
- Seoul National University Hospital
Relapsed or Refractory B-cell Non-Hodgkin's Lymphoma
Study of Tazemetostat in Participants With Relapsed or Refractory B-cell Non-Hodgkin's Lymphoma With EZH2 Gene Mutation
This is a multicenter, open-label, Phase 2 study to assess the efficacy and safety of tazemetostat in participants with relapsed or refractory B-cell non-Hodgkin's lymphoma (NHL) with EZH2 gene mutation.
- Trial name
- NCT03456726
- Testing
- Tazemetostat
- Where
- 28 sites in Japan
- Volunteers
- 20 people
- Sponsor
- Eisai Co., Ltd.
Non-Small Cell Lung Cancer (NSCLC)
A Study to Evaluate the Impact of Management Strategies on Gastrointestinal-Related Adverse Events in Participants With Non-Small Cell Lung Cancer Harboring Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertion Mutations Receiving TAK-788
The purpose of the study is to characterize the incidence and severity of TAK-788-associated diarrhea in previously treated participants with locally advanced or metastatic non-small-cell lung cancer (NSCLC) whose tumors harbor…
- Trial name
- NCT04576208
- Testing
- TAK-788, Antidiarrheal prophylaxis
- Sponsor
- Takeda
NSCLC
TAGRISSO (Osimertinib) in NSCLC Patients in Whom T790 Mutations Are Detected by Liquid Biopsy
In this trial, anti-tumor efficacy of TAGRISSO in NSCLC patients in whom T790 mutations are detected by liquid biopsy.
- Trial name
- NCT03394118
- Testing
- Osimertinib
- Where
- South Korea
- Volunteers
- 63 people
- Sponsor
- Asan Medical Center
Long QT Syndrome
Mutation-specific Therapy for the Long QT Syndrome
Novel therapy for the Long QT Syndrome based on the mechanism of action of the disease-causing mutations Long QT syndrome type 2 (LQT2) accounts for ~ 35% of all LQTS cases and is difficult to manage, as beta-blockers frequently…
- Trial name
- MAST2 (NCT04581408)
- Testing
- Lumacaftor / Ivacaftor, Orkambi® Oral Tablet
- Where
- Italy
- Volunteers
- 16 people
- Sponsor
- Istituto Auxologico Italiano
NSCLC (Advanced Non-small Cell Lung Cancer)
A Study of BH-30643 in Subjects With Locally Advanced or Metastatic NSCLC Harboring EGFR and/or HER2 Mutations
This Phase1/2, open label, multicenter study will assess the safety, tolerability, pharmacokinetics (PK), pharmacodynamics and preliminary anti-tumor activity of BH-30643 in patients with NSCLC having EGFR and/or HER2 mutations.
- Trial name
- SOLARA (NCT06706076)
- Testing
- BH-30643, BH-30643 combo therapy with Carboplatin/Pemetrexed
- Where
- 42 sites in United States, Australia and 7 more
- Volunteers
- 675 people
- Sponsor
- BlossomHill Therapeutics
Ovarian Cancer
Establishing the Incidences of BRCA1 and BRCA2 Mutation by Combining DHPLC and Direct Sequencing in Ovarian Cancer
Ovarian cancer is the first mortality rate of gynecologic malignancies. The incidence of ovarian cancer increased in recent 10 years.
- Trial name
- NCT00155896
- Where
- Taiwan
- Volunteers
- 100 people
- Sponsor
- National Taiwan University Hospital
Asparagine Synthetase Deficiency, Genetic Diseases, Inborn
Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation
The investigators propose to analyze a brain sample and/or peripheral blood by single cell RNA seq from aborted embryos with ASNS mutation.
- Trial name
- NCT03587155
- Where
- China
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- The First Hospital of Jilin University
HIV Infections
Reducing the Incidence of Nevirapine Resistance Mutations in Pregnant HIV Infected Women Who Receive Anti-HIV Drugs Prior to and After Giving Birth
The purpose of this study is to determine which of 3 different anti-HIV drug regimens given to HIV infected pregnant women during and after their pregnancies is most effective in reducing the incidence of nevirapine (NVP)…
- Trial name
- NCT00109590
- Testing
- Didanosine, enteric-coated, Lopinavir/ritonavir, Nevirapine
- Where
- 7 sites in Thailand
- Volunteers
- 175 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Cystic Fibrosis
CPET in CF Patients With One G551D Mutation Taking VX770
Ivacaftor will restore CFTR function in treated CF patients with the G551D mutation. Improvement in ventilation, salt balance and well-being will contribute to better exercise capacity at all levels of lung function.
- Trial name
- NCT01937325
- Testing
- ivacaftor
- Where
- Australia
- Volunteers
- 20 people
- Sponsor
- The Alfred
Patient With Breast Cancer
Assessment of the Mutation of Pig-A Gene as Biomarker of Genotoxic Exposure in Humans
The evaluation of the impact of environment on the incidence of cancer is a major public health issue. Increased knowledge in this area is necessary for the implementation of primary prevention means with appropriate preventive…
- Trial name
- PIG-A (NCT02727868)
- Testing
- blood samples
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Gliomas Harboring IDH1 and/or IDH2 Mutations
Phase I Study of HMPL-306 for the Treatment of Gliomas With IDH1 and/or IDH2 Mutations
This study is a multicenter, randomized controlled Phase I clinical study to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and preliminary efficacy of HMPL-306 in patients with gliomas harboring IDH1…
- Trial name
- NCT07025018
- Testing
- HMPL-306
- Where
- China
- Volunteers
- 52 people
- Sponsor
- Hutchmed
IBMPFD
Natural History Study of Patients With VCP-related Disease
A natural history study to understand the expected progression of disease in patients with confirmed mutations in the VCP gene over 1 year.
- Trial name
- NCT04823143
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- Nationwide Children's Hospital
Ovarian Cancer
Prevalence of BRCA1 and BRCA2 Mutations in Ovarian Cancer Patients in the Gulf Region
A prospective, multi-centre, epidemiological observational study designed to evaluate the prevalence of BRCA1 and BRCA2 (BReast CAncer gene) mutations in current and newly diagnosed ovarian cancer patients across different…
- Trial name
- PREDICT (NCT03082976)
- Where
- United Arab Emirates
- Volunteers
- 108 people
- Sponsor
- AstraZeneca
Advanced Malignant Solid Neoplasm, Glioblastoma
Olaparib in Treating Patients With Advanced Glioma, Cholangiocarcinoma, or Solid Tumors With IDH1 or IDH2 Mutations
This phase II trial studies how well olaparib works in treating patients with glioma, cholangiocarcinoma, or solid tumors with IDH1 or IDH2 mutations that has spread from where it first started (primary site) to other places in…
- Conditions
- Advanced Malignant Solid Neoplasm, Glioblastoma, Recurrent Cholangiocarcinoma, Recurrent Glioma
- Trial name
- NCT03212274
- Testing
- Biopsy Procedure, Biospecimen Collection, Computed Tomography
- Where
- 51 sites in United States
- Volunteers
- 89 people
- Sponsor
- National Cancer Institute (NCI)
Non-small Cell Lung Cancer
Aumolertinib with or Without Chemotherapy As 1st Line Treatment in Locally Advanced or Metastatic Non-Small Cell Lung Cancer with Sensitizing EGFR Mutations
To assess the efficacy and safety of Aumolertinib plus chemotherapy versus Aumolertinib alone as first-line treatment in locally advanced or metastatic non-small cell lung cancer (NSCLC) with sensitizing epidermal growth factor…
- Trial name
- NCT04923906
- Testing
- Aumolertinib
- Where
- China
- Volunteers
- 624 people
- Sponsor
- Jiangsu Hansoh Pharmaceutical Co., Ltd.
Leber Hereditary Optic Neuropathy (LHON)
Gene Therapy Clinical Trial for the Treatment of Leber's Hereditary Optic Neuropathy Associated With ND1 Mutations
The objective of this clinical study is to evaluate the safety, tolerability and preliminary efficacy of NFS-02 in the treatment of LHON caused by mitochondrial ND1 gene mutation.
- Trial name
- NCT05820152
- Testing
- NFS-02 Injection
- Where
- 4 sites in United States, China
- Volunteers
- 11 people
- Sponsor
- Neurophth Therapeutics Inc
Ovarian Cancer, Breast Cancer
Roll Over StudY for Patients Who Have Completed a Previous Oncology Study With Olaparib
The rationale of the ROSY-O study is to continue to provide study treatment for patients who have participated in a parent study with olaparib and who are continuing to derive clinical benefit from treatment at the end of such…
- Trial name
- ROSY-O (NCT04421963)
- Testing
- Olaparib
- Where
- 107 sites in United States, Belgium and 21 more
- Volunteers
- 185 people
- Sponsor
- AstraZeneca
Triple Negative Metastatic Breast Cancer, BRCA-mutated Solid Tumor
Study of BMN-673 With Carboplatin and Paclitaxel in Patients With Advanced BRCA-mutated Solid Tumor or Triple Negative Metastatic Breast Cancer
Open label, non-randomized, dose escalation and expansion Phase Ia/b trial to evaluate the safety of the combination of BMN 673 and carboplatin, and subsequently BMN 673 in combination with paclitaxel and carboplatin to determine…
- Trial name
- NCT02358200
- Testing
- BMN-673, Carboplatin, Paclitaxel
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Pamela Munster
Metastatic Pancreatic Adenocarcinoma, Stage IV Pancreatic Cancer AJCC v8
Testing the Addition of Pembrolizumab, an Immunotherapy Cancer Drug to Olaparib Alone as Therapy for Patients With Pancreatic Cancer That Has Spread With Inherited BRCA Mutations
This phase II trial studies whether adding pembrolizumab to olaparib (standard of care) works better than olaparib alone in treating patients with pancreatic cancer with germline BRCA1 or BRCA2 mutations that has spread to other…
- Trial name
- NCT04548752
- Testing
- Biopsy Procedure, Biospecimen Collection, Computed Tomography
- Where
- 533 sites in United States
- Volunteers
- 68 people
- Sponsor
- National Cancer Institute (NCI)
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