Clinical trials: Gene Mutations
Drug Monitoring, Carcinoma, Non-Small-Cell Lung
Comparison of Standard Dose Alectinib to Alectinib in Adjusted Dose Based on Alectinib Bloodlevels
The ADAPT ALEC randomized controlled trial (RCT) is performed in patients with Anaplastic Lymphoma Kinase (ALK) positive non-small cell lung cancer (NSCLC).
- Conditions
- Drug Monitoring, Carcinoma, Non-Small-Cell Lung, Lung Cancer, Anaplastic Lymphoma Kinase Gene Mutation
- Trial name
- ADAPT ALEC (NCT05525338)
- Testing
- Alectinib
- Where
- 8 sites in France, Netherlands
- Volunteers
- 196 people
- Sponsor
- University Medical Center Groningen
Acute Myeloid Leukemia, Myelodysplastic Syndromes
Screening Gene Mutations in Myeloid Cancers by Next Generation Sequencing to Improve Treatment Results
Genetic mutations have closely linked to the pathogenesis and prognostication of myeloid cancers. In addition, a number of molecularly targeted agents have been developed in recent years.
- Conditions
- Acute Myeloid Leukemia, Myelodysplastic Syndromes, Myeloproliferative Neoplasm, Aplastic Anemia
- Trial name
- NCT04060485
- Where
- Taiwan
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Non-small Cell Lung Cancer Metastatic, EGFR G719X
Befotertinib and Icotinib for NSCLC With Uncommon EGFR Mutations
This research study aims to explore the combination of two targeted drugs as first-line treatment for Non-Small Cell Lung Cancer (NSCLC) with uncommon EGFR mutation.
- Conditions
- Non-small Cell Lung Cancer Metastatic, EGFR G719X, EGFR L861Q, EGFR S768I
- Trial name
- IcomBine (NCT06517953)
- Testing
- Icotinib, Befotertinib
- Where
- China
- Volunteers
- 23 people
- Sponsor
- Sun Yat-sen University
CALR Gene Mutation, Essential Thrombocythemia
CPAP in Treating Obstructive Sleep Apnea in Patients With Polycythemia Vera or Essential Thrombocythemia
This early phase I trial studies how well the use of a continuous positive airway pressure (CPAP) machine works in treating obstructive sleep apnea in patients with polycythemia vera or essential thrombocythemia.
- Conditions
- CALR Gene Mutation, Essential Thrombocythemia, JAK2 Gene Mutation, MPL Gene Mutation
- Trial name
- NCT03972943
- Testing
- Continuous Positive Airway Pressure, Patient Observation, Questionnaire Administration
- Where
- 2 sites in United States
- Volunteers
- 8 people
- Sponsor
- University of Utah
X-Linked Hypophosphatemia
Registry for Patients With X-Linked Hypophosphatemia
This is an international, multicentre, prospective, non-interventional, observational Registry of patients with X-Linked hypophosphatemia (XLH).
- Trial name
- NCT03193476
- Where
- 118 sites in Belgium, Bulgaria and 18 more
- Volunteers
- 1,489 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Locally Advanced Malignant Solid Neoplasm, Metastatic Malignant Solid Neoplasm
Study of Chemotherapy Plus Ipatasertib for People With Solid Tumors With PTEN/AKT Mutations, A ComboMATCH Treatment Trial
This phase II ComboMATCH treatment trial tests the usual treatment of chemotherapy (paclitaxel) plus ipatasertib in patients with solid tumor cancers that that cannot be removed by surgery (unresectable), has spread to nearby…
- Conditions
- Locally Advanced Malignant Solid Neoplasm, Metastatic Malignant Solid Neoplasm, Unresectable Malignant Solid Neoplasm
- Trial name
- NCT05554380
- Testing
- Biopsy Procedure, Biospecimen Collection, Computed Tomography
- Where
- 209 sites in United States, Puerto Rico
- Volunteers
- 33 people
- Sponsor
- National Cancer Institute (NCI)
Germline Mutations
Early Diagnosis of High-grade Serous Epithelial Ovarian Cancer Through the Analysis of DNA Derived From Pap Test Smear.
Ovarian cancer is the leading cause of death among gynecological malignancies. No screening test is available for this tumor. Serous Tubal Intraepithelial Carcinoma (STIC) is the precursor lesion of the high grade serous ovarian…
- Trial name
- EVATEST (NCT07556562)
- Testing
- RRSO (risk-reducing salpingo- oophorectomy) or RRS (risk-reducing salpingectomy)
- Where
- Italy
- Volunteers
- 260 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Opioid Dependence, Methadone Toxicity
KCNH2 Polymorphisms on the QTc Interval in Kelantanese Malays Patients Receiving Methadone Maintenance Therapy (MMT)
Methadone maintenance therapy (MMT) is one of the modalities to prevent HIV transmission among injected drug users, particularly in opioid-dependent users.
- Conditions
- Opioid Dependence, Methadone Toxicity, HERG Gene Mutation
- Trial name
- NCT03603158
- Where
- Malaysia
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- Universiti Sains Malaysia
Alpha 1-Antitrypsin Deficiency
Study of BMN 349 Single Dose in PiZZ and PiMZ/MASH Adult Participants
The goal of this clinical trial is to assess the safety and tolerability of a single oral dose of BMN 349 in participants with PiZZ or PiMZ/MASH.
- Trial name
- NCT06738017
- Testing
- BMN 349
- Where
- 7 sites in United States, United Kingdom
- Volunteers
- 6 people
- Sponsor
- BioMarin Pharmaceutical
Brain Arterial Disease
Liquid Biopsies for the Detection of Somatic Mutations in bAVMs
"Personalized medicine has revolutionized patient care, particularly in oncology. Brain arteriovenous malformations (bAVMs) are abnormal vessels located on the surface of the brain or within the brain parenchyma, causing abnormal…
- Trial name
- BioMAV (NCT06494358)
- Testing
- liquid biopsies and surgery specimen analysis
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Laminopathy, Lamin A/C Gene Mutation
Subanalysis in Patients With CARDIoLAMinopathy Enrolled to REPORT-CCM Registry
Observational, retrospective registry with acute and chronic endpoints
- Conditions
- Laminopathy, Lamin A/C Gene Mutation, Heart Failure
- Trial name
- CARDILAM-CCM (NCT04904393)
- Testing
- Implant of the device for Cardiac Contractility Modulation (CCM) Therapy
- Where
- Italy
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Monaldi Hospital
Non Small Cell Lung Cancer
A Trial of Anlotinib Combined With Docetaxel in EGFR Mutations Advanced Non Small Cell Lung Cancer Patients
Anlotinib is a multi-target receptor tyrosine kinase inhibitor in domestic research and development. It can inhibit angiogenesis-related kinases, such as VEGFR, FGFR, PDGFR and tumor cell proliferation related kinase c-Kit…
- Trial name
- NCT04619563
- Testing
- Anlotinib Hydrochloride plus Docetaxel
- Where
- China
- Volunteers
- 42 people
- Sponsor
- Shandong Cancer Hospital and Institute
NF type1 With Inoperable Plexiform Neurofibromas
An Intermediate Access Protocol for Selumetinib for Treatment of Neurofibromatosis Type 1
This will be an open-label, single-arm, multicenter intermediate access protocol which provides treatment access to selumetinib for eligible patients with neurofibromatosis type 1 (NF1) who have inoperable…
- Trial name
- NCT03259633
- Testing
- Selumetinib
- Where
- United States
- Sponsor
- AstraZeneca
Primary Lymphedema
Primary Lymphedema and Mutation CELSR1 (Cadherin EGF LAG Seven-pass G-type Receptor 1)
The investigators will describe the expression of mutation CELSR1 with codon stop and amino acids substitution mechanism in primary lymphedema, in both clinical examination and imaging exploration
- Trial name
- CELSR1 (NCT04919655)
- Where
- France
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Parkinson's Disease
Parkin Mutations and Their Functional Consequences
Parkinson's disease (PD) is the most frequent neurodegenerative disease with a prevalence of 2% over 65 years and because of this high prevalence as the population ages, it is a major problem of public health.
- Trial name
- NCT00136721
- Where
- France
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Colorectal Cancer
A Study of Avastin (Bevacizumab) in Combination With mFOLFOX6 in Treatment-Naïve Patients With Metastatic Colorectal Cancer With or Without K-RAS Mutations, and Comparison to Cetuximab
This randomized, open-label study will evaluate the safety and efficacy of Avastin (Bevacizumab) added to standard mFOLFOX6 chemotherapy in treatment-naïve patients with Stage IV metastatic colorectal cancer.
- Trial name
- NCT01338558
- Testing
- bevacizumab [Avastin], cetuximab, mFOLFOX6
- Sponsor
- Hoffmann-La Roche
Non Small Cell Lung Cancer, RET Gene Mutation
The Efficacy and Safety of LMV-12 Combined With Osimertinib in NSCLC
This is an open-label, single-arm, dose-escalation, multicenter phase I/II clinical trial. The primary endpoints of this study were to evaluated the safety, tolerability, pharmacokinetic profile and preliminary efficacy of HE003…
- Conditions
- Non Small Cell Lung Cancer, RET Gene Mutation, MET Amplification, EGF-R Positive Non-Small Cell Lung Cancer
- Trial name
- PROFILE (NCT06109558)
- Testing
- LMV-12(HE003)
- Where
- China
- Volunteers
- 120 people
- Sponsor
- Hunan Province Tumor Hospital
Erythromelalgia
Carbamazapine for Inherited Erythromelalgia Patients With NaV1.7 Mutations
This research study is designed to investigate brain response using fMRI scan, and behavioral responses, to treatment with the drug carbamazepine (CBZ) in patients with the painful sodium channelopathy inherited Erythromelalgia…
- Trial name
- NCT02214615
- Testing
- Carbamazepine
- Where
- 2 sites in United States
- Volunteers
- 2 people
- Sponsor
- VA Connecticut Healthcare System
Retinal Degeneration, ABCA4-Related Retinopathies
Natural History of Eye Diseases Related to ABCA4 Mutations
Background: The ABCA4 gene contains a blueprint for the ABCA4 protein. When this protein is absent or faulty (such as in Stargardt s disease), waste material from dead cells collects in the eye.
- Trial name
- NCT01736293
- Where
- United States
- Volunteers
- 68 people
- Sponsor
- National Eye Institute (NEI)
NALP3 Mutation
Safety, Efficacy, Pharmacokinetics, Pharmacodynamics of ACZ885 in Patients With NALP3 Mutations and Clinical Symptoms
This study will investigate the clinical efficacy, safety, pharmacokinetics (PK) and pharmacodynamics (PD) of ACZ885, administered intravenously and subcutaneously to patients with NALP3 mutations whose clinical symptoms are…
- Trial name
- NCT00487708
- Testing
- canakinumab
- Where
- 10 sites in France, Germany and 3 more
- Volunteers
- 34 people
- Sponsor
- Novartis Pharmaceuticals
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