Clinical trials: Gene Mutations
Thromboembolic Venous Disease
New Genetic Mutations in Thromboembolic Venous Disease Idiopathic. Study "FIT GENETIQUE".
Identify new genetic mutations predisposing to an increased risk of VTE by locating and / or identifying genes involved in subjects at high risk for thrombotic and in whom screening for detectable hereditary thrombophilia was…
- Trial name
- Fit-Génétique (NCT02841085)
- Testing
- Genetic sample
- Where
- France
- Volunteers
- 613 people
- Sponsor
- University Hospital, Brest
Lung Neoplasm, Carcinoma, Non-Small-Cell Lung
(HARMONY) Study of BLU-701 in EGFR-mutant NSCLC
This is a Phase 1/2, open-label, first-in-human (FIH) study is designed to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and antitumor activity of BLU-701 as monotherapy or in combination with either…
- Conditions
- Lung Neoplasm, Carcinoma, Non-Small-Cell Lung, Respiratory Tract Neoplasms, Neoplasms
- Trial name
- NCT05153408
- Testing
- BLU-701, osimertinib, carboplatin
- Where
- 7 sites in United States
- Volunteers
- 20 people
- Sponsor
- Blueprint Medicines Corporation
Solid Tumors and Hematologic Malignancy, NSCLC (Non-small Cell Lung Carcinoma)
Itacitinib in Combination With Erlotinib in Non Small Cell Lung Cancer Patients With Epidermal Growth Factor Receptor (EGFR) Activating Mutations
The purpose of this study is to determine if Itacitinib in combination with erlotinib is safe and effective in the treatment of nonsquamous non-small cell lung cancer (NSCLC) that is Stage IIIB/Stage IV or recurrent whose tumors…
- Trial name
- NCT02355431
- Testing
- Itacitinib, erlotinib
- Where
- United States
- Sponsor
- Incyte Corporation
Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Gene Mutations
Midostaurin and Decitabine in Treating Older Patients With Newly Diagnosed Acute Myeloid Leukemia and FLT3 Mutation
This phase II trial studies how well midostaurin and decitabine work in treating older patients with newly diagnosed acute myeloid leukemia and FLT3 mutations.
- Conditions
- Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Gene Mutations, FLT3 Tyrosine Kinase Domain Point Mutation, Secondary Acute Myeloid Leukemia
- Trial name
- NCT02634827
- Testing
- Decitabine, Laboratory Biomarker Analysis, Midostaurin
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Mayo Clinic
Urothelial Carcinoma
HER2 and LA/mUC: A Multi-country Chart Review Cohort Study
This study is being done to learn about urothelial cancers that make HER2 and how that affects treatment choices for participants with urothelial cancer.
- Trial name
- NCT05902494
- Where
- 23 sites in United States, Austria and 2 more
- Volunteers
- 389 people
- Sponsor
- Seagen, a wholly owned subsidiary of Pfizer
Breast Cancer, PI3K/AKT/mTOR Pathway Mutation
Efficacy of Everolimus-containing Chemotherapy in HER2- mBC Patients With PI3K/AKT/mTOR Mutations Study
The study aimed to investigate the efficacy of the everolimus-containing chemotherapy in metastatic breast cancer patients with PI3K/AKT/mTOR mutations.14 cases of HER2- metastatic breast cancer patients with PI3K/AKT/mTOR…
- Conditions
- Breast Cancer, PI3K/AKT/mTOR Pathway Mutation, Everolimus
- Trial name
- NCT05054166
- Testing
- No intervention, it was a retrospective study.
- Where
- China
- Volunteers
- 14 people
- Sponsor
- Zhejiang Cancer Hospital
Cancer
Study to Investigate Safety, Pharmacokinetic (PK), Pharmacodynamic (PD) and Clinical Activity of Trametinib in Subjects With Cancer or Plexiform Neurofibromas and Trametinib in Combination With Dabrafenib in Subjects With Cancers Harboring V600 Mutations
This was a 4-part (Part A, Part B, Part C and Part D), Phase I/IIa, multi-center, open label, study in pediatric subjects with refractory or recurrent tumors.
- Trial name
- NCT02124772
- Testing
- Trametinib, Dabrafenib
- Where
- 16 sites in United States, Australia and 3 more
- Volunteers
- 139 people
- Sponsor
- Novartis Pharmaceuticals
MMR Mutation, Small Bowel Adenoma
Small Bowel Capsule Endoscopy in Lynch Syndrome
The impact of small bowel (SB) capsule endoscopy (CE) on the screening (followed by diagnosis and treatment) of (pre)neoplastic lesions of the small bowel in Lynch syndrome (LS) patients is unknown.
- Conditions
- MMR Mutation, Small Bowel Adenoma, Small-bowel Adenocarcinoma, Lynch Syndrome
- Trial name
- iCARE4Lynch (NCT07472686)
- Where
- France
- Volunteers
- 400 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
JAK1 GOF, STAT1 GOF
Upadacitinib in Treatment of JAK/STAT Pathway Disorders With Activating Mutations
This study focuses on a genetic condition that affects the Janus Kinase-Signal Transducer and Activator of Transcription (JAK-STAT) immune signaling pathway.
- Conditions
- JAK1 GOF, STAT1 GOF, STAT3 GOF, STAT5B GOF
- Trial name
- SAFE-JAKi (NCT07670156)
- Testing
- Upadacitinib
- Where
- 3 sites in United States
- Volunteers
- 30 people
- Sponsor
- Lisa Satter
Venous Malformation, Lymphatic Malformation
First in Human Trial of Topical VT30 in Pts With Venous/Lymphatic Malformations Assoc With PIK3CA or TEK Gene Mutations
VT30-101 is a 2-part first-in-human trial of topically administered VT30 to subjects with cutaneous venous malformations, lymphatic malformations, or mixed venolymphatic malformations associated with PIK3CA or TEK mutations.
- Conditions
- Venous Malformation, Lymphatic Malformation, Venolymphatic Malformation
- Trial name
- NCT04409145
- Testing
- VT30
- Where
- 15 sites in United States
- Volunteers
- 15 people
- Sponsor
- Venthera, Inc., a BridgeBio company
Non-Small Cell Lung Cancer
A Study of Tarceva (Erlotinib) in Patients With Locally Advanced or Metastatic Non-small Cell Lung Cancer Who Present EGFR Mutations
This single arm, open-label study will assess the efficacy and safety of Tarceva (erlotinib) in patients with locally advanced or metastatic non-small cell lung cancer with epidermal growth factor receptor (EGFR) mutations.
- Trial name
- NCT01287754
- Testing
- erlotinib [Tarceva]
- Where
- 5 sites in Finland
- Volunteers
- 24 people
- Sponsor
- Hoffmann-La Roche
Carcinoma, Non-Small-Cell Lung
Vitamin C and Tyrosine Kinase Inhibitor in Lung Cancer Patients With Epidermal Growth Factor Receptor Mutations
This trial was to explore whether intravenous vitamin C can prolong resistance time of Tyrosine Kinase Inhibitor(TKI) on lung adenocarcinoma patients with Epidermal Growth Factor Receptor(EGFR) mutations, and can benefit NSCLC…
- Trial name
- NCT03799094
- Testing
- Vitamin C, Tyrosine kinase inhibitor
- Where
- China
- Volunteers
- 150 people
- Sponsor
- Clifford Hospital, Guangzhou, China
NSCLC (Non-small Cell Lung Cancer)
Gene Molecular Alterations as Disease Prognostic Markers in Patients With Non-small Cell Lung Cancer (NSCLC)
GEMA-proN is an observational, multicenter, single cohort, retrospective clinical trial. The aim of the trial is to assess the prevalence, and prognostic value of genetic molecular alterations and investigate correlations with…
- Trial name
- GEMA-proN (NCT06876402)
- Where
- Greece
- Volunteers
- 367 people
- Sponsor
- Hellenic Cooperative Oncology Group
Lung Adenocarcinoma, EGFR Mutation
Gefitinib and Berberine in the First-line Treatment of Lung Adenocarcinoma With EGFR Mutation
Rationale: Advanced non-small-cell lung cancer (NSCLC) patients harboring epidermal growth factor receptor (EGFR) mutations (del19 or L858R) show an impressive progression-free survival between 9 and 11 months when treated with…
- Trial name
- Geber (NCT03486496)
- Testing
- gefitinib, Berberine
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Fujian Cancer Hospital
Cancer, Malignancies Multiple
CAnadian CAncers With Rare Molecular Alterations (CARMA) - Basket Real-world Observational Study (BROS)
This study will collect data on Canadian cancer patients that have uncommon/rare changes in their tumours, such as alterations/rearrangements in the genetic material inside cells - known as deoxyribonucleic acid, or DNA, which…
- Conditions
- Cancer, Malignancies Multiple, Malignant Solid Tumor, Cancer, Therapy-Related
- Trial name
- CARMA-BROS (NCT04151342)
- Testing
- Cancer treatment with tyrosine kinase inhibitors (TKIs) or other molecularly targeted therapeutic agents., Patient-reported outcomes (PROs)
- Where
- 27 sites in Canada
- Volunteers
- 5,500 people
- Sponsor
- University Health Network, Toronto
Optic, Atrophy, Hereditary, Leber
Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation (REVERSE)
The goal of this clinical trial is to assess the effectiveness of GS010, a gene therapy, in improving the visual outcome in participants with Leber Hereditary Optic Neuropathy (LHON) due to the G11778A ND4 mitochondrial mutation…
- Trial name
- REVERSE (NCT02652780)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 37 people
- Sponsor
- GenSight Biologics
Heterozygous Carriers of Gitelman Syndrome
Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl Cotransporter
Gitelman syndrome is a salt wasting tubulopathy caused by mutations in the SLC12A3 gene coding for the thiazide sensitive sodium chloride cotransporter.
- Trial name
- HEPHYGI (NCT02035046)
- Testing
- Samplings of blood, Sampling of urine, Measure of the blood pressure
- Where
- 5 sites in France
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Breast Cancer, Endometrial Cancer
A Phase 1b/2 Study of Serabelisib in Combination With Canagliflozin in Patients With Advanced Solid Tumors
This study aims to test the hypothesis that combining serabelisib, a PI3K alpha isoform inhibitor, with an SGLT2 inhibitor, canagliflozin will improve efficacy in the treatment of patients with advanced solid tumors.
- Conditions
- Breast Cancer, Endometrial Cancer, Lung Cancer, Colo-rectal Cancer
- Trial name
- NCT04073680
- Testing
- Serabelisib, Canagliflozin 300mg
- Volunteers
- 60 people
- Sponsor
- Petra Pharma
Colo-rectal Cancer, Polygenic Risk Score
Development of Polygenic Risk Scores in Colon Cancer Patients Through the Study of Ancestry and Diversity in Genetic Maps of the Brazilian Population - ORIGEM Project
Development of a polygenic risk score based on somatic and germline genetic information from patients with colorectal cancer
- Conditions
- Colo-rectal Cancer, Polygenic Risk Score, Somatic Mutation, Hereditary Cancer
- Trial name
- ORIGEM (NCT06917794)
- Where
- 9 sites in Brazil
- Volunteers
- 500 people
- Sponsor
- D'Or Institute for Research and Education
Leber Hereditary Optic Neuropathy (LHON)
A Phase 3, Multicenter, Randomized, Double-Masked, Sham-Controlled Clinical Trial for Leber's Hereditary Optic Neuropathy (LHON) Associated With ND4 Mutation
The objective of this clinical study is to evaluate the safety and efficacy of NR082 in the treatment of LHON caused by mitochondrial ND4 gene mutation.
- Trial name
- NCT07406854
- Testing
- rAAV2-ND4
- Where
- China
- Volunteers
- 95 people
- Sponsor
- Wuhan Neurophth Biotechnology Limited Company
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