Clinical trials: Genetic Mutation
Alzheimer Disease
Study of Genetic Alzheimer's Disease Mutation Carriers in Preclinical Stages of the Disease 18F-Florbetaben Positron Emission Tomography Study
The main purpose of the study is to assess safety of a single dose of FBB followed by PET scan in individuals at risk of genetic Alzheimer's disease.
- Trial name
- NCT02362880
- Testing
- Florbetaben
- Where
- Spain
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Judit Pich Martínez
Lung Cancer, EGFR Gene Mutation
Real-Time Monitoring of Symptoms in Lung Cancer Patients Receiving Oral Targeted Therapies
In this study, patients who are taking oral tyrosine kinase inhibitor (TKI) therapy for lung cancer will be asked to participate in a remote monitoring system for up to 24 weeks.
- Conditions
- Lung Cancer, EGFR Gene Mutation, EGFR, ALK Gene Mutation
- Trial name
- Lung001 (NCT05370469)
- Testing
- Sensus Smartwatch Application, RX Cap, Fitbit Sense
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of Virginia
BRAF NP_004324.2:p.V600E, BRAF V600K Mutation Present
Dabrafenib, Trametinib, and IMRT in Treating Patients With BRAF Mutated Anaplastic Thyroid Cancer
This trial studies how well dabrafenib, trametinib, and intensity modulated radiation therapy (IMRT) work together in treating patients with BRAF mutated anaplastic thyroid cancer.
- Conditions
- BRAF NP_004324.2:p.V600E, BRAF V600K Mutation Present, Thyroid Gland Anaplastic Carcinoma
- Trial name
- NCT03975231
- Testing
- Dabrafenib, Intensity-Modulated Radiation Therapy, Trametinib
- Where
- 3 sites in United States
- Volunteers
- 6 people
- Sponsor
- City of Hope Medical Center
Craniometaphyseal Dysplasia
Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
CMD can be inherited in an autosomal dominant or recessive trait. CMD may also be caused by de novo mutations. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for CMD.
- Trial name
- CMD (NCT01630460)
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- UConn Health
Cystic Fibrosis
Study of GLPG1837 in Subjects With Cystic Fibrosis (S1251N Mutation)
At least 6 cystic fibrosis patients with the S1251N mutation will be treated for 4 weeks, consisting of two consecutive treatment periods of two weeks evaluating one dose of GLPG1837 each.
- Trial name
- SAPHIRA2 (NCT02690519)
- Testing
- GLPG1837 dose 1, GLPG1837 dose 2
- Where
- 5 sites in Belgium, Netherlands
- Volunteers
- 7 people
- Sponsor
- Lakefront Biotherapeutics NV
Cystic Fibrosis
Ivacaftor in French Patients With Cystic Fibrosis and a G551D Mutation
The purpose of this study is to determine whether the treatment with Ivacaftor remains effective and safe in the patients with cystic fibrosis (and at least one G551D CFTR mutation) in the real life setting, after the drug has…
- Trial name
- IVACAFTOR1 (NCT02194881)
- Testing
- CF patients with a G551D mutation and treated with Ivacaftor
- Where
- France
- Volunteers
- 57 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Non-small Cell Lung Cancer Stage III, EGFR Positive Non-small Cell Lung Cancer
A Study of Lazertinib as Consolidation Therapy in Patients With Locally Advanced, Unresectable, EGFR-Mutant Non-Small Cell Lung Cancer (Stage III) Following Chemoradiation Therapy
The "PACIFIC" trial confirmed that the consolidation therapy with durvalumab in patients with stage III, locally advanced, unresectable NSCLC that had not progressed after definitive platinum-based chemoradiation therapy improved…
- Conditions
- Non-small Cell Lung Cancer Stage III, EGFR Positive Non-small Cell Lung Cancer, Non-squamous Non-small-cell Lung Cancer
- Trial name
- PLATINUM (NCT05338619)
- Testing
- Lazertinib
- Where
- 13 sites in South Korea
- Volunteers
- 77 people
- Sponsor
- Sung Yong Lee
Familial Adenomatous Polyposis
Azithromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis
Colorectal cancer (CRC) is a leading cause for cancer related mortality in the western world with a lifetime risk of 6%. Etiology is complex, while genetic background significantly affects the risk.
- Trial name
- FAP (NCT04454151)
- Testing
- Azithromycin Tablets
- Where
- Israel
- Volunteers
- 10 people
- Sponsor
- Tel-Aviv Sourasky Medical Center
Carcinoma, Non-small Cell Lung Cancer
Predicting Non-small Cell Lung Cancer (NSCLC) Lymph Node Metastasis: Integrating Circulating Tumor DNA (ctDNA) Mutation/ Methylation Profiling With Positron Emission Tomography-computed Tomography (PET-CT) Scan
This is a single center, prospective and observational study conducted in three stages to predict the NSCLC lymph node metastasis based on ctDNA/specific methylation molecular features combined with PET-CT imaging features and…
- Trial name
- NCT06358222
- Testing
- Blood ctDNA + methylation + PET-CT and Postoperative pathology, MRD+ methylation (or combined with PET-CT) and Invasive mediastinoscopy /EBUS-TBNA, Intraoperative lymph node dissection
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Shanghai Chest Hospital
Chronic Myelogenous Leukemia - Chronic Phase
Asciminib in Monotherapy for Chronic Myeloid Leukemia in Chronic Phase (CML-CP) With and Without T315I Mutation
This study was a multicenter Phase IIIb open-label, three-cohort study of asciminib in patients with CML-CP without T315I mutation who have had at least 2 prior TKIs and CML-CP harboring the T315I mutation with at least 1 prior…
- Trial name
- AIM4CML (NCT04666259)
- Testing
- ABL001
- Where
- 26 sites in United States
- Volunteers
- 56 people
- Sponsor
- Novartis Pharmaceuticals
Stage IV Colorectal Cancer Positive for BRAF V600E Mutation, Colorectal Cancer
Hydroxychloroquine in Combination With Encorafenib and Cetuximab or Panitumumab in the Treatment of Metastatic BRAF-mutated Colorectal Cancer Refractory
This is a Phase II, open label, single-arm trial study of adding hydroxychloroquine to encorafenib and cetuximab in patients with metastatic BRAF V600E colon cancer with progression on at least 1 prior line of therapy.
- Conditions
- Stage IV Colorectal Cancer Positive for BRAF V600E Mutation, Colorectal Cancer, Colorectal Cancer Stage IV
- Trial name
- NCT05576896
- Testing
- Hydroxychloroquine in Combination With Encorafenib and Cetuximab or Panitumumab
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Northwestern University
Acute Myeloid Leukemia With FLT3/ITD Mutation, Recurrent Acute Myeloid Leukemia
Venetoclax and Quizartinib in Treating Patients With FLT3-mutated Recurrent or Refractory Acute Myeloid Leukemia
This phase Ib/II trial studies the side effects and best dose of venetoclax in combination with quizartinib and how well they work in treating patients with acute myeloid leukemia that has come back or does not respond to…
- Conditions
- Acute Myeloid Leukemia With FLT3/ITD Mutation, Recurrent Acute Myeloid Leukemia, Refractory Acute Leukemia
- Trial name
- NCT03735875
- Testing
- Quizartinib, Venetoclax
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- M.D. Anderson Cancer Center
Breast Cancer
Phase I Study of the HS-10352 in Patients With Advanced Breast Cancer
HS-10352 is a highly potent and selective small molecule inhibitor of phosphoinositide 3-kinase (p110α). In preclinical studies, it demonstrated strong activity against PI3K p110α in vitro and in vivo, and inhibited tumor cell…
- Trial name
- NCT04631835
- Testing
- HS-10352
- Where
- 3 sites in China
- Volunteers
- 54 people
- Sponsor
- Jiangsu Hansoh Pharmaceutical Co., Ltd.
Carcinoma, Non-Small-Cell Lung
High-dose Icotinib Treatment Beyond Progression in EGFR Mutant NSCLC
The purpose of this study is to investigate whether high-dose icotinib treatment beyond disease progression is beneficial for NSCLC patients who have EGFR mutation and who have responded to EGFR TKI.
- Trial name
- NCT02960607
- Testing
- Icotinib
- Where
- China
- Volunteers
- 25 people
- Sponsor
- Chinese Academy of Medical Sciences
Hereditary Breast and Ovarian Cancer Syndrome, Colorectal Neoplasms, Hereditary Nonpolyposis
Risk-Reducing Surgeries for Hereditary Ovarian Cancer
Based on studies of "Inherited Susceptible Genes Among Epithelial Ovarian Cancer" (NCT03015376, clinicaltrials.gov) and "Cohort Study of Universal Screening for Lynch Syndrome in Chinese Patients of Endometrial Cancer"…
- Conditions
- Hereditary Breast and Ovarian Cancer Syndrome, Colorectal Neoplasms, Hereditary Nonpolyposis, Ovariectomy, Hysterectomy
- Trial name
- NCT03294343
- Testing
- salpingo-oophorectomy only by laparoscopy, salpingo-oophorectomy with hysterectomy by laparoscopy, Follow-up
- Where
- China
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Lei Li
Metastatic Colorectal Cancer
Sym004 in Metastatic Colorectal Cancer and ECD-EGFR Patients
This is a single arm, phase 2, open-label, multicenter trial in patients with metastatic colorectal cancer (mCRC) and acquired resistance to anti-epidermal growth factor receptor (EGFR) monoclonal antibodies (mAbs) and documented…
- Trial name
- NCT02965417
- Testing
- Sym004
- Sponsor
- Symphogen A/S
Solid Tumor, Solid Tumor, Adult
UCSF Biobank for Hereditary Cancers and Tumor-Associated Mutations
This is a non-therapeutic clinical research biorepository protocol designed to obtain, store, and clinically annotate biospecimens from participants with hereditary cancers.
- Conditions
- Solid Tumor, Solid Tumor, Adult, Somatic Mutation, Solid Tumor, Unspecified, Adult
- Trial name
- NCT06895681
- Testing
- Blood Sample, Tissue Sample, Excess fluid Sample
- Sponsor
- University of California, San Francisco
NUT Midline Carcinoma, Triple Negative Breast Cancer
A Dose-Finding Study of Birabresib (MK-8628), a Small Molecule Inhibitor of the Bromodomain and Extra-Terminal (BET) Proteins, in Adults With Selected Advanced Solid Tumors (MK-8628-003)
Open-label, phase I, non-randomized, multicentric study of single-agent birabresib (MK-8628) (formerly known as OTX015) administered according to two distinct regimens to participants with selected advanced tumors.
- Conditions
- NUT Midline Carcinoma, Triple Negative Breast Cancer, Non-small Cell Lung Cancer With Rearranged ALK Gene/Fusion Protein or KRAS Mutation, Castrate-resistant Prostate Cancer
- Trial name
- NCT02259114
- Testing
- Birabresib
- Volunteers
- 47 people
- Sponsor
- Oncoethix GmbH, a subsidiary of Merck & Co., Inc. (Rahway, New Jersey USA)
Schizophrenia
A Placebo-Controlled Study of Physiologic Effects of L-methylfolate in Schizophrenia Patients
This study is a 12-week, double-blind, placebo-controlled trial of L-methylfolate 15 mg/d supplementation in schizophrenia patients with mild or greater negative symptoms.
- Trial name
- NCT01091506
- Testing
- L-methylfolate
- Where
- United States
- Volunteers
- 55 people
- Sponsor
- Pamlab, Inc.
MDS, Immunodeficiency
Pilot and Feasibility Study of Reduced-Intensity Hematopoietic Stem Cell Transplant for MonoMAC
Background: Stem cells are immature blood cells that grow in the bone marrow and produce all of the cells needed for normal blood and immunity.
- Conditions
- MDS, Immunodeficiency, GATA2
- Trial name
- NCT00923364
- Testing
- Cyclophosphamide (CTX, Cytoxan), Fludarabine(Fludara,Berlex Laboratories), Total Body Irradiation (TBI)
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- National Cancer Institute (NCI)
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