Clinical trials: Genetic Mutation
Neonatal Diabetes Secondary to Mutation in the Potassium Channel
Glibentek in Patients With Neonatal Diabetes Secondary to Mutations in K+-ATP Channels
The understanding of the molecular mechanisms of neonatal diabetes has deeply changed the therapy of patients carrying mutations in the K-ATP channel.
- Trial name
- NEOGLI (NCT02375828)
- Testing
- Glibenclamide
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Menin Inhibitors, Acute Leukemia
A Real-world Study on the Efficacy and Safety of Menin Inhibitors as Maintenance After Allo-HSCT
The objective of this observational study is to evaluate the efficacy and safety of menin inhibitor maintenance therapy in patients with acute leukemia who have undergone allogeneic hematopoietic stem cell transplantation…
- Conditions
- Menin Inhibitors, Acute Leukemia, Post Hematopoietic Stem Cell Transplantation, Maintenance Therapy
- Trial name
- NCT07559695
- Where
- China
- Volunteers
- 20 people
- Sponsor
- The First Affiliated Hospital of Soochow University
Non Small Cell Lung Cancer
Furmonertinib Combined With Intrathecal Chemotherapy and Stereotactic Radiotherapy (SRT) for EGFR-Mutated NSCLC Patients With Brain Parenchymal and Leptomeningeal Metastases
A Single-Arm Clinical Study of Furmonertinib (160mg) Combined with Intrathecal Chemotherapy (ITC) and Stereotactic Radiotherapy (SRT) as First-Line Treatment in EGFR Classic Mutation-Positive NSCLC Patients with Brain Parenchymal…
- Trial name
- NCT07304739
- Testing
- Furmonertinib, Intrathecal chemotherapy, Stereotactic radiotherapy
- Where
- 3 sites in China
- Volunteers
- 30 people
- Sponsor
- Tianjin Medical University Cancer Institute and Hospital
NSCLC, HER2-expression
Paclitaxel-trastuzumab in EGFR-mutated NSCLC Patients
This study is a pilot study in EGFR-mutated NSCLC patients who have progressed on standard-dose TKIs. Tumor biopsies will be evaluated for HER2-expression.
- Conditions
- NSCLC, HER2-expression, EGFR-mutation
- Trial name
- NCT02226757
- Testing
- Paclitaxel-trastzumab
- Where
- Netherlands
- Volunteers
- 16 people
- Sponsor
- Amsterdam UMC, location VUmc
CTNNB1 Gene Mutation
Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation
The aim of this study is to explore and define the correlations between genotype and phenotype in patients with CTNNB1 mutations as well as monitor and survey the natural history of the CTNNB1 syndrome.
- Trial name
- Gen-Phe CTNNB1 (NCT04812119)
- Testing
- The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F), The Autism Spectrum Quotient-Children's Version (AQ-Child), The Autism-Spectrum Quotient (AQ)-Adolescent Version (AQ-Adolescent)
- Where
- 3 sites in Australia, Slovenia
- Volunteers
- 100 people
- Sponsor
- University Medical Centre Ljubljana
Pain, Pulmonary Nodules
Effect of CYP2D6*10 Gene Mutation on Perioperative Precision Analgesia of Oxycodone in Elderly Patients
The purpose of this prospective study was to determine the effect of CYP2D6 gene polymorphism on perioperative analgesia of oxycodone in elderly patients, and to assign the CYP2D6 phenotype according to the genotype, and to use…
- Conditions
- Pain, Pulmonary Nodules, Oxycodone
- Trial name
- NCT07484867
- Testing
- oxycodone
- Where
- China
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Henan Provincial People's Hospital
Advanced Cancers
Phosphatidylinositol 3 Kinase and Mammalian Target of Rapamycin (PI3K-mTOR) in Advanced Cancer Patients
The goal of this clinical research study is to learn if temsirolimus can help to control advanced cancer in patients who also have a PI3K mutation and/or PTEN loss. The safety of this drug will also be tested.
- Trial name
- NCT00877773
- Testing
- Temsirolimus
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- M.D. Anderson Cancer Center
Pulmonary Arterial Hypertension
Effect of BMPR-2 Gene Mutations on Hemodynamic Response by Iloprost Inhalation in Pulmonary Arterial Hypertension
In the present study, the investigators want to investigate the prevalence of BMPR-2 gene mutations in the Korean PAH patients (Step-I) and to test that the PAH patients treated with iloprost inhalation solution (Ventavis®) would…
- Trial name
- PILGRIM (NCT01054105)
- Testing
- Iloprost
- Where
- 6 sites in South Korea
- Volunteers
- 73 people
- Sponsor
- Gachon University Gil Medical Center
VHL Gene Mutation, VHL
MK-3795 (PT2385) for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma (MK-3795-003)
The primary objective of this study is to assess the overall response rate (ORR) of von Hippel-Lindau (VHL) disease-associated clear cell renal cell carcinoma (ccRCC) tumors in VHL participants treated with MK-3795.
- Conditions
- VHL Gene Mutation, VHL, VHL Syndrome, VHL Gene Inactivation
- Trial name
- NCT03108066
- Testing
- MK-3795
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Peloton Therapeutics, Inc., a subsidiary of Merck & Co., Inc. (Rahway, New Jersey USA)
Von Hippel-Lindau Disease
Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only)
Background: Von Hippel-Lindau (VHL) disease is a rare gene disease. People with VHL often have a brain tumor called hemangioblastoma. Standard treatment for these tumors is risky surgery.
- Trial name
- NCT02108002
- Testing
- Vorinostat
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Acute Myeloid Leukemia (AML), Myelodysplastic Syndrome
Study of Orally Administered AG-881 in Patients With Advanced Hematologic Malignancies With an IDH1 and/or IDH2 Mutation
The purpose of this Phase I, multicenter study is to evaluate the safety, pharmacokinetics, pharmacodynamics and clinical activity of AG-881 in advanced hematologic malignancies that harbor an IDH1 and/or IDH2 mutation
- Conditions
- Acute Myeloid Leukemia (AML), Myelodysplastic Syndrome, Hematologic Malignancies
- Trial name
- NCT02492737
- Testing
- AG881
- Where
- 6 sites in United States, France
- Volunteers
- 46 people
- Sponsor
- Agios Pharmaceuticals, Inc.
Colorectal Cancer, Colon Cancer
Neoadjuvant Encorafenib, Binimetinib and Cetuximab for Patients With BRAF V600E Mutated/pMMR Localized Colorectal Cancer
AIO-KRK-0420 NeoBRAF is a single arm, multicenter, phase II trial with neoadjuvant encorafenib, binimetinib and cetuximab for patients with BRAF V600E mutated/pMMR localized colorectal cancer.
- Conditions
- Colorectal Cancer, Colon Cancer, BRAF V600E, BRAF V600 Mutation
- Trial name
- NeoBRAF (NCT05510895)
- Testing
- Binimetinib
- Where
- Germany
- Volunteers
- 2 people
- Sponsor
- AIO-Studien-gGmbH
Epidermal Growth Factor, Epidermal Growth Factor Receptor
A Phase 1 Study of EPI-326 in EGFR-mutant NSCLC and HNSCC
A phase 1 study to determine the safety, tolerability, PK, PD, and preliminary anti-tumor activity of ascending doses of EPI-326 administered to patients with locally advanced or metastatic HNSCC and to patients with any…
- Conditions
- Epidermal Growth Factor, Epidermal Growth Factor Receptor, Epidermal Growth Factor Receptor Gene Mutation, Non Small Cell
- Trial name
- NCT07462377
- Testing
- EPI-326
- Where
- 8 sites in United States, South Korea and 1 more
- Volunteers
- 110 people
- Sponsor
- EpiBiologics
Non Small Cell Lung Cancer
Olmutinib Trial in T790M (+) NSCLC Patients Detected by Liquid Biopsy Using BALF Extracellular Vesicular DNA
The purpose of this study is to evaluate the efficacy of Olmutinib(Olita®) in patients with T790M-positive non-small cell lung cancer (NSCLC) confirmed using DNA extracted from extracellular vesicles of bronchoalveolar lavage…
- Trial name
- NCT03228277
- Testing
- Olmutinib
- Where
- South Korea
- Volunteers
- 25 people
- Sponsor
- Konkuk University Medical Center
Amyotrophic Lateral Sclerosis
Personalized Antisense Oligonucleotide Therapy for A Single Participant With TARDBP ALS
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with amyotrophic lateral sclerosis (ALS) due to a pathogenic variant in TARDBP.
- Trial name
- NCT07095712
- Testing
- nL-TARD-001
- Where
- 2 sites in United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
BRCA1 Mutation Carrier, BRCA2 Mutation Carrier
Breast Cancer Risk in Women Who Are BRCA1/BRCA2 Mutation Carriers
This research study is looking at breast cancer risk in women who are BRCA1/BRCA2 mutation carriers. Studying samples of DNA in the laboratory from women who are BRCA1/BRCA2 mutation carriers may help doctors identify biomarkers…
- Conditions
- BRCA1 Mutation Carrier, BRCA2 Mutation Carrier, Breast Carcinoma
- Trial name
- NCT00899145
- Testing
- Laboratory Biomarker Analysis
- Where
- United States
- Sponsor
- Gynecologic Oncology Group
Solid Tumors, ER+ Breast Cancer
JAB-2485 Activity in Adult Patients With Advanced Solid Tumors
This study is to evaluate the safety and tolerability of JAB-2485 monotherapy in adult participants with advanced solid tumors.
- Conditions
- Solid Tumors, ER+ Breast Cancer, Triple Negative Breast Cancer, TNBC, ARID1A Gene Mutation
- Trial name
- NCT05490472
- Testing
- JAB-2485 (Aurora A inhibitor)
- Where
- 8 sites in United States, China
- Volunteers
- 102 people
- Sponsor
- Jacobio Pharmaceuticals Co., Ltd.
Li Fraumeni Syndrome, Lynch Syndrome
Inherited Cancer Early Diagnosis (ICED) Study
ICED is a prospective sample collection research study, aiming to develop or validate a blood/urine biomarker which could potentially detect cancers early in individuals at high risk of developing cancers, due to certain germline…
- Conditions
- Li Fraumeni Syndrome, Lynch Syndrome, Hereditary Diffuse Gastric Cancer, Cowden Syndrome
- Trial name
- ICED (NCT06163365)
- Where
- United Kingdom
- Volunteers
- 100 people
- Sponsor
- Royal Marsden NHS Foundation Trust
Advanced Unresectable Melanoma, Metastatic Melanoma
Mirdametinib in Patients With Advanced NF1-mutant Melanoma
The goal of this clinical trial is to evaluate clinical efficacy of mirdametinib in patients with advanced NF1-mutant melanoma whose disease has progressed while on or after previous immunotherapy.
- Trial name
- NCT07237100
- Testing
- Mirdametinib
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Kevin Kim, MD
Severe Familial Hypercholesterolemia
Trial Assessing Long Term USe of PCSK9 Inhibition in Subjects With Genetic LDL Disorders
A study to assess the long term safety and tolerability of evolocumab (AMG 145) in adolescents and adults with severe familial hypercholesterolemia.
- Trial name
- TAUSSIG (NCT01624142)
- Testing
- Evolocumab
- Where
- 44 sites in United States, Australia and 16 more
- Volunteers
- 300 people
- Sponsor
- Amgen
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