Clinical trials: Gene Mutations
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)
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
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
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
Cancer, Cancer Metastatic
A Basket Trial of an ERK1/2 Inhibitor (LY3214996) in Combination With Abemaciclib.
The purpose of CTO-IUSCC-0730 study is to assess the clinical efficacy of LY3214996 in combination with abemaciclib at the recommended phase 2 dose of LY3214996 200 mg orally daily and abemaciclib 150 mg orally twice daily.
- Conditions
- Cancer, Cancer Metastatic, BRAF V600E, MEK1 Gene Mutation
- Trial name
- NCT04534283
- Testing
- Abemaciclib, LY3214996
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Anita Turk
Amyloid Neuropathies, Familial
Early and Systematic Screening in Chronic Neuropathy
TTR-FAP is a rare disabling inherited disorder that predominantly affects the peripheral nervous system and the heart. Due to an important phenotypic and genetic heterogeneity, the diagnosis is often delayed, preventing therefore…
- Trial name
- TTR-FAP (NCT03720275)
- Testing
- Systematic screening of TTR mutations
- Where
- France
- Volunteers
- 130 people
- Sponsor
- University Hospital, Bordeaux
Primary Aldosteronism
Pathological Type，Gene Mutation and Clinical Characteristics of Unilateral Primary Aldosteronism
1. Aim to investigate the pathological feature of UPA in Asians 2. To clarify the relationship between pathology, clinical phenotype, genetic mutation and surgical outcome of UPA in Asians. 3.
- Trial name
- NCT06597630
- Testing
- Tissue specimens were stained by histopathology of hematoxylin-eosin
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Qifu Li
Neurological Diseases
Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases
In Israel, because of special qualification in neurogenetics, during a 30 year career ,we have found, characterized and treated at least 13 novel neurological diseases.
- Trial name
- NGS (NCT02340871)
- Testing
- Genetic testing
- Where
- Israel
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Rabin Medical Center
Non Small Cell Lung Cancer
Furmonertinib in Patients With Leptomeningeal Metastases Associated With EGFR Mutated NSCLC
The goal of this clinical trial is to evaluate the clinical efficacy and safety of Furmonertinib in EGFR mutated NSCLC patients with leptomeningeal metastasis and to explore the feasibility of CSF ctDNA detection for efficacy…
- Trial name
- NCT05813522
- Testing
- Furmonertinib Mesilate Tablets
- Where
- China
- Volunteers
- 30 people
- Sponsor
- First Affiliated Hospital of Zhejiang University
Major Depressive Disorder
Pharmacogenetic Decision Support IT System for Psychiatric Hospitalization: RCT
This Randomized Clinical Trial (RCT) compares outcomes in patients with major depressive disorder (MDD) treated according to the patient's CYP2D6 genotype status versus empiric "standard-of-care" psychotropic therapy.
- Trial name
- CYP-GUIDES (NCT02120729)
- Testing
- Genotype-guided care
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- Hartford Hospital
Colorectal Cancer Metastatic, Circulating Tumor DNA
OPTImal PALliative Anti-epidermal Growth Factor Receptor Treatment in Metastatic Colorectal Cancer -
The present study will investigate the feasibility and clinical value of using circulating tumor DNA as selection for anti-epidermal growth factor receptor treatment for metastatic colorectal cancer.
- Conditions
- Colorectal Cancer Metastatic, Circulating Tumor DNA, KRAS Gene Mutation, NRAS Gene Mutation
- Trial name
- OPTIPAL-II (NCT03750175)
- Testing
- Plasma circulating DNA analysis
- Where
- Denmark
- Volunteers
- 49 people
- Sponsor
- Karen-Lise Garm Spindler
Metabolic Syndrome, Insulin Resistance
Effect of Blueberry Consumption on Metabolic Syndrome & DNA Damage
Obesity usually brings with it disturbances in the body that increase the chances of developing serious diseases like diabetes and cancer.
- Conditions
- Metabolic Syndrome, Insulin Resistance, DNA Damage
- Trial name
- NCT02075307
- Testing
- Blueberry Powder
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- UCSF Benioff Children's Hospital Oakland
NF1, Neurofibromatosis
Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults
This study, "A Phase II Study of Cabozantinib (XL l84) for Plexiform Neurofibromas in Subjects with Neurofibromatosis Type I in Children and Adults diagnosed with Neurofibromatosis Type 1 (NF1) and have a type of tumor called a…
- Conditions
- NF1, Neurofibromatosis, Plexiform Neurofibromas
- Trial name
- NF105-CABO (NCT02101736)
- Testing
- Cabozantinib
- Where
- 12 sites in United States
- Volunteers
- 45 people
- Sponsor
- University of Alabama at Birmingham
MDM2/MDMX Gene Mutation, Nuclear Medicine
First Human Trial of Targeting MDM2/MDMX PET Imaging
Investigation of the Radiotracer Uptake of [68Ga] MDM2/MDMX Peptide at Lesion Sites in Patients with Malignant Tumors, and Evaluation of the Capability of [68Ga] MDM2/MDMX Peptide to Detect Overexpression of MDM2/MDMX in Tumor…
- Conditions
- MDM2/MDMX Gene Mutation, Nuclear Medicine, Positron Emission Tomography Imaing
- Trial name
- NCT06443762
- Testing
- [68Ga] MDM2/MDMX Peptide
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Peking University Cancer Hospital & Institute
Genetic Testing, BRCA1/2
Responses to Genetic Risk Modifier Testing Among Women With Pathogenic Variants in Breast Cancer Predisposition Genes
The purpose of this study is to describe how women with BRCA1/2 mutations react to genetic risk modifier testing, and to examine how they make decisions about their healthcare.
- Trial name
- NCT03396341
- Testing
- Salvia sample, Questionnaires, Buccal swab sample
- Where
- 7 sites in United States
- Volunteers
- 806 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Colorectal Cancer
Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSI
Objectives: In this Radboud University Nijmegen Medical Centre (RUNMC) initiated study our first objective is to investigate toxicity (safety and feasibility) of vaccination with frameshift-derived neoantigen-loaded DC of CRC…
- Trial name
- NCT01885702
- Testing
- DC vaccination
- Where
- Netherlands
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Radboud University Medical Center
Preeclampsia
LMWH to Prevent Preeclampsia and Fetal Growth Restriction
The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history…
- Trial name
- NCT00260520
- Testing
- Dalteparin
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Florence
PIEZO2-Deficiency Syndrome
Microneurographic Assessment of Peripheral Nerves in Healthy Volunteers and Individuals With Sensory Dysfunction Caused by Inherited Mutations in the PIEZO2 Gene
Background: PIEZO2 Deficiency Syndrome (PDS) is a genetic disorder that affects a person s ability to feel touches and pain. Researchers want to know more about how PDS changes nerve function.
- Trial name
- NCT06052631
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- National Center for Complementary and Integrative Health (NCCIH)
Prostate Cancer
Study of Tissue and Blood Samples From Patients With Recurrent Prostate Cancer Who Received Lapatinib on Clinical Trial ECOG-E5803
RATIONALE: Studying samples of tumor tissue and blood in the laboratory from patients with cancer may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT00897351
- Testing
- mutation analysis, polymorphism analysis, protein expression analysis
- Volunteers
- 37 people
- Sponsor
- ECOG-ACRIN Cancer Research Group
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.