Clinical trials: Gene Abnormality
Gene Abnormality, Meniscus Injury
Study on Susceptibility Genes of Anterior Cruciate Ligament, Patella Dislocation and Discoid Meniscus
Genomes of all sports medicine-related genes will be exome sequenced to find relevant gene mutations. To further study the molecular mechanisms and signaling pathways related to sports injury.
- Conditions
- Gene Abnormality, Meniscus Injury, Cruciate Ligament Rupture
- Trial name
- NCT04997538
- Where
- China
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Peking University Third Hospital
Breast Neoplasms, Germline BRCA1 Gene Mutation
Prospective Study of MAstectomy With Reconstruction Including Robot Endoscopic Surgery
Robotic mastectomy and immediate reconstruction have been introduced in 2015. However, since robotic mastectomy is the latest surgical technique, there is a lack of studies prospectively comparing conventional mastectomy and…
- Conditions
- Breast Neoplasms, Germline BRCA1 Gene Mutation, Germline BRCA2 Gene Mutation, Benign Breast Disease
- Trial name
- MARRES (NCT04585074)
- Testing
- Robotic or endoscopic nipple sparing mastectomy, Conventional mastectomy (including nipple sparing mastectomy, skin sparing mastectomy)
- Where
- 18 sites in South Korea
- Volunteers
- 2,000 people
- Sponsor
- Severance Hospital
Heart Septal Defects, Ventricle, Heart Defects, Congenital
Genes Causing Ebstein's Anomaly
This study will investigate Ebstein's anomaly, a congenital abnormality of the tricuspid valve of the heart and try to identify the genetic origins of the disease.
- Conditions
- Heart Septal Defects, Ventricle, Heart Defects, Congenital, Double Outlet Right Ventricle, Truncus Arteriosus, Persistent
- Trial name
- NCT00497705
- Where
- 3 sites in United States, Belarus and 1 more
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Acute Lymphoid Leukemia, Minimal Residual Disease
Adult Acute Lymphoblastic Leukemia Treated With Pediatric Regimen in Brazil
In this project, the investigators intend to start a prospective registry for patients with newly diagnosed Philadelphia-negative ALL from 16 years old and above in participating centers, provided that all patients will be…
- Conditions
- Acute Lymphoid Leukemia, Minimal Residual Disease, Gene Abnormality, Chemotherapeutic Toxicity
- Trial name
- BRALLA (NCT05959720)
- Testing
- Prednisone, Vincristin, Daunorubicin
- Where
- Brazil
- Volunteers
- 180 people
- Sponsor
- Instituto do Cancer do Estado de São Paulo
Hematologic Malignancy, Acute Leukemia
MT2021-08T Cell Receptor Alpha/Beta Depletion PBSC Transplantation for Heme Malignancies
This is a phase II, open-label, prospective study of T cell receptor alpha/beta depletion (TCR α/β TCD) peripheral blood stem cell (PBSC) transplantation for children and adults with hematological malignancies.
- Conditions
- Hematologic Malignancy, Acute Leukemia, Remission, Acute Myeloid Leukemia
- Trial name
- NCT05735717
- Testing
- Fludarabine, Busulfan, Melphalan
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Relapsed Acute Myeloid Leukemia, Refractory Acute Myeloid Leukemia
Influence of Molecular Abnormalities on Response of VAH vs. VEN+HMA in RR-AML
The aim of this study is to reveal the influence of gene mutations on the treatment response of the regimen of HHT combined with Venetoclax plus AZA versus venetoclax plus HMA in the salvage therapy of RR-AML.
- Conditions
- Relapsed Acute Myeloid Leukemia, Refractory Acute Myeloid Leukemia, Gene Abnormality, Cytogenetic Abnormality
- Trial name
- NCT05456048
- Testing
- VAH regimen, VEN+HMA regimen
- Where
- China
- Volunteers
- 231 people
- Sponsor
- Nanfang Hospital, Southern Medical University
Non-Small Cell Lung Cancer
A Clinical Trial of TQB2102 for Injection in Non-small Cell Lung Cancer With HER2 Gene Abnormality
TQB2102 is an antibody-drug conjugate comprised of a humanised antibody against Human Epidermal Growth Factor Receptor 2 (HER2), a enzyme-cleavable linker, and a topoisomerase I inhibitor payload, which combine the ability of…
- Trial name
- NCT06496490
- Testing
- TQB2102 for injection, TQB2102 for injection combined with Benmelstobart injection
- Where
- 25 sites in China
- Volunteers
- 270 people
- Sponsor
- Chia Tai Tianqing Pharmaceutical Group Nanjing Shunxin Pharmaceutical Co., Ltd.
HIV-Associated Lipodystrophy Syndrome, Cardiovascular Disease
HIV Infection And Metabolic Abnormalities Protocol 1 (HAMA001)
This is a prospective, non-randomised, 48 week study of the effect of protease inhibitor (PI) containing and non-PI containing antiretroviral regimens on the expression of adipocyte specific genes, protein levels and cellular…
- Trial name
- NCT00192660
- Testing
- Lamivudine, Stavudine, Didanosine
- Where
- Australia
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Kirby Institute
Intellectual Disabilities, Congenital Anomaly
Genome Medical Sequencing for Gene Discovery
Background: A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown.
- Conditions
- Intellectual Disabilities, Congenital Anomaly, Rare Disorders
- Trial name
- NCT01087320
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Metastatic Breast Cancer, Circulating Tumor DNA
Circulating Tumor DNA (ctDNA)-Guided Late-Line Treatment in Patients With Late-Stage Breast Cancer
This is a retrospective, observational, multi-center clinical study of circulating tumor DNA (ctDNA) to guide late-line therapy in late-stage metastatic breast cancer patients.
- Conditions
- Metastatic Breast Cancer, Circulating Tumor DNA, Gene Abnormality
- Trial name
- ACTDNAGLT (NCT05427617)
- Testing
- Control group, Case group
- Volunteers
- 223 people
- Sponsor
- Hunan Cancer Hospital
Diffuse Large B Cell Lymphoma
ZR-CHOP in DLBCL With Specific Gene Abnormality
This is a phase 2, single center clinical trial. to evaluating the efficacy and safety of Zanubrutinib in combination with R-CHOP in newly diagnosed diffuse large B-cell lymphoma with specific gene abnormality.
- Trial name
- NCT05290337
- Testing
- zanubrutinib
- Where
- China
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Fudan University
Non-small Cell Lung Cancer, Gene Abnormality
Genotyping of Non-small Cell Lung Cancer
The logical next step is to integrate molecular profiling into the care of all patients with NSCLC.
- Trial name
- NCT02002117
- Testing
- DNA mass
- Where
- Taiwan
- Volunteers
- 100 people
- Sponsor
- National Taiwan University Hospital
Cancer, Fatigue
Relationship Between Mitochondrial Dysfunction and Fatique in Cancer Patients Following External Beam Radiation Therapy
Background: Fatigue is a very common early and late side effect of cancer treatment, including radiation therapy. The cause of fatigue is poorly understood, making it hard to diagnose and treat.
- Trial name
- NCT01143467
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- National Institute of Nursing Research (NINR)
Gene Abnormality, Asthma
B2 Adrenergic Receptor Gene Polymorphism in Bronchial Asthma
The b2-adrenoceptor (b2AR) mediates the physiological responses in the airway, which include bronchodilation, bronchoprotection.
- Trial name
- polymorphism (NCT03118869)
- Where
- Egypt
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Assiut University
Gene Abnormality, Inflammatory Bowel Disease
Correlation of Genetic Susceptibility Genes to Inflammatory Bowel Disease in Chinese Han Population
The pathogenesis of IBD is still unclear, and the disease characteristics of IBD patients are affected by genetic susceptibility genes.
- Conditions
- Gene Abnormality, Inflammatory Bowel Disease, Chinese
- Trial name
- CGSGIBDCHP (NCT05071742)
- Testing
- 2ml peripheral venous blood was collected to detect genetic genes
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Second Affiliated Hospital of Wenzhou Medical University
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Pre-mutation on FMR1 Gene
Analysis of Oculo-motor Deficiencies Associated With FMR1 Gene Expression (Genetic Abnormality Predisposing to a Neurodegenerative Disease)
The specific aim of this study is to compare ocular movements abnormalities between males with pre-mutation on FRM1 gene (symptomatic or asymptomatic on the motor plan and/or on the cognitive plan), males without the pre-mutation…
- Trial name
- NCT00763191
- Testing
- examination of ocular movements, MATTIS test, UPDRS test
- Where
- France
- Volunteers
- 27 people
- Sponsor
- Nantes University Hospital
Mesothelioma, Malignant, Gene Abnormality
Molecular, Pathologic Intra Tumoral Heterogeneity in Malignant Pleural Mesothelioma
Malignant pleural mesothelioma (MPM) is a rare pleural cancer, which could be primary or secondary to an asbestos exposure. To enhance our knowledge of this rare disease, an exploration of genetic and tumor mechanism is…
- Conditions
- Mesothelioma, Malignant, Gene Abnormality, Pleural Mesothelioma
- Trial name
- SCITH-MESO (NCT04823741)
- Testing
- PLEURAL BIOCOLLECTION OF MALIGNANT PLEURAL MESOTHELIOMA
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Hospices Civils de Lyon
Neutral Lipid Storage Disease
International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
This study aims to understand the state of onset of NLSD(neutral lipid storage disease) / TGCV(triglyceride deposit cardiovasculopathy) worldwide, background information of affected patients, and natural history of the disease…
- Trial name
- NCT02918032
- Where
- 15 sites in United States, Austria and 7 more
- Volunteers
- 120 people
- Sponsor
- Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
Lymphoma, Non-Hodgkin, Multiple Myeloma
TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer
The purpose of the study is to learn from the real world practice of prescribing targeted therapies to patients with advanced cancer whose tumor harbors a genomic variant known to be a drug target or to predict sensitivity to a…
- Conditions
- Lymphoma, Non-Hodgkin, Multiple Myeloma, Advanced Solid Tumors
- Trial name
- TAPUR (NCT02693535)
- Testing
- Sunitinib (CLOSED TO ENROLLMENT), Trastuzumab and Pertuzumab (CLOSED TO ENROLLMENT), Vemurafenib and Cobimetinib (CLOSED TO ENROLLMENT)
- Where
- 181 sites in United States, Puerto Rico
- Volunteers
- 4,200 people
- Sponsor
- American Society of Clinical Oncology