Liquid Biopsy

Biliary tract carcinoma (BTC) includes cancers of the gallbladder, intrahepatic cholangiocarcinoma, and extrahepatic cholangiocarcinoma. It is a highly aggressive cancer with poor outcomes, ranking sixth in gastrointestinal cancer incidence and tenth in cancer-related deaths worldwide. Because early symptoms are often absent and the disease tends to recur and spread, only about 16.5% of patients can have curative surgery, and the overall 5-year survival rate is under 5%. Early and accurate detection is crucial to improve patient outcomes. This research aims to assess the use of cell-free DNA (cfDNA) methylation in blood as a liquid biopsy for diagnosing and managing BTC. The study involves several groups, including healthy individuals, patients with confirmed benign biliary lesions, other gastrointestinal cancers, and those with confirmed or suspected BTC. Researchers will analyze methylation patterns in circulating tumor DNA (ctDNA), a small fraction of cfDNA that carries tumor genetic and epigenetic information. This approach is studied for its potential to detect BTC early, assist in differential diagnosis, monitor prognosis, and guide therapy. Different cohorts serve as internal training, validation sets, and independent validation groups. Participants will provide blood samples and undergo clinical evaluations to measure the accuracy of the ctDNA methylation test in diagnosing BTC. The study will assess diagnostic performance by cancer subtype and stage, and ability to distinguish BTC from other conditions. Vital signs, organ function, and other health markers will be monitored to ensure participant safety. The study welcomes adults aged 18 to 80 years, with follow-up and assessments continuing until May 2026 to evaluate the test's clinical utility.

Esophageal squamous cell carcinoma (ESCC) is a common and deadly cancer in China, with many patients diagnosed at advanced stages. This study evaluates a combined treatment approach using induction immunochemotherapy followed by concurrent chemoradiotherapy, aiming to improve outcomes for patients with locally advanced, unresectable ESCC. Researchers also focus on using circulating tumor DNA (ctDNA) to monitor treatment response and predict tumor progression, as ctDNA changes can appear before imaging detects recurrence. Participants receive induction immunochemotherapy consisting of toripalimab combined with paclitaxel and cisplatin every three weeks for two cycles. This is followed by radical concurrent chemoradiotherapy with weekly paclitaxel and cisplatin for five cycles along with radiotherapy delivered five days per week. The study dynamically monitors ctDNA levels at several points: before treatment, before chemoradiotherapy, after 20 radiotherapy fractions, and every three months after treatment completion. During the study, participants undergo regular assessments including blood tests for ctDNA analysis and monitoring of tumor status. The main outcome measured is progression-free survival at one year. Safety and efficacy are tracked throughout the treatment and follow-up periods. The total participation duration and timing of assessments are carefully planned to evaluate the treatment strategy and its correlation with patient prognosis.

Researchers are studying whether a combination of two drugs, fruquintinib and tislelizumab, can help control colorectal cancer in patients who have completed treatment but still show signs of minimal residual disease (MRD) through positive ctDNA tests. This phase 2 trial focuses on patients with microsatellite stable colorectal adenocarcinoma who have finished curative treatments including chemotherapy. The study aims to measure how well the treatment clears ctDNA at 3 and 6 months, as well as to assess disease-free survival, overall survival, and safety. Participants will receive treatment with fruquintinib taken orally and tislelizumab given intravenously. The study does not include randomization or placebo groups; all participants receive the combination therapy. The treatment period and dosing schedules are designed to evaluate the effects on MRD as detected by the Signatera assay. The trial includes careful monitoring of organ function and blood counts to ensure participant safety. Throughout the study, participants will undergo regular ctDNA testing to monitor minimal residual disease status, along with assessments for disease progression and survival. Safety and adverse events will be tracked for about one year from the start of treatment. Participants must be able to provide informed consent and will be closely observed for treatment tolerability and effectiveness. The study will continue until April 2028, allowing long-term follow-up on outcomes and safety.

This research investigates adjuvant chemotherapy decision-making for patients with high-risk stage III colorectal cancer, specifically those with T4N+ or T1-3N2 disease. It evaluates the use of plasma circulating tumor DNA (ctDNA) methylation to guide treatment choices. The study is a randomized controlled trial sponsored by Fudan University, focusing on how adding bevacizumab to standard chemotherapy affects patient outcomes. Participants will be randomly assigned to one of two groups: the control group will receive standard chemotherapy with FOLFOX or CAPOX for six months, while the intervention group will receive the same chemotherapy combined with bevacizumab for six months. Blood samples will be collected at one, three, and six months after surgery to monitor plasma ctDNA dynamically. During the study, participants will undergo regular assessments including blood draws for ctDNA analysis. Researchers will measure outcomes such as the patients two-year progression-free survival and ctDNA clearance rate at six months. The study aims to follow participants over a two-year period to evaluate treatment effects and safety.

Researchers are evaluating the safety and effectiveness of a new drug delivery method using dexamethasone-loaded exosomes compared to standard intratympanic dexamethasone and exosome vehicle alone in adults with sudden sensorineural hearing loss (SSNHL). This condition involves rapid hearing loss of 30 decibels or more over three frequencies within 72 hours, with causes often unknown but possibly related to infections, immune responses, or blood flow issues in the ear. The study aims to improve drug delivery to the inner ear and reduce systemic side effects. The trial includes three treatment groups: one receiving standard dexamethasone injections into the middle ear, another receiving exosomes alone, and the third receiving exosomes loaded with dexamethasone. These treatments are given as a single course through intratympanic administration. The researchers will assess how well the treatments improve hearing and how the drugs distribute within the ear, using advanced imaging and hearing tests over several weeks. Participants will undergo hearing assessments including pure-tone average tests, auditory brainstem response, and otoacoustic emissions at baseline and follow-up visits at 1, 4, and 12 weeks after treatment. Safety and tolerability will be closely monitored. The main measurement is the change in hearing levels four weeks after treatment. The study will last up to six months for each participant, with detailed evaluations to understand the drug's effects and safety profile throughout this period.

Researchers are collecting various biological samples, such as blood, urine, body fluids, skin swabs, and skin biopsies, to support medical research conducted by the National Institute of Allergy and Infectious Diseases (NIAID) Vaccine Research Center. The samples help study infectious diseases like HIV and hepatitis, immune system responses, and the development of vaccines and monoclonal antibodies. The study includes children from 3 years old and adults, including healthy volunteers and those with infections or allergic or autoimmune conditions. Specimens are collected through standard blood draws (phlebotomy) or apheresis, which involves removing blood, separating desired components like plasma or white blood cells, and returning the rest to the participant. The apheresis procedure takes about 1 to 3 hours with the participant reclining. Samples may also include mucosal secretions, skin swabs, and biopsies. Collection can occur at clinic visits, outside labs, or at home, with shipments sent to the research center. Participants may donate samples once or repeatedly over a 1-year enrollment period, which can be extended. Participants undergo sample collection and provide basic medical and demographic information linked to their samples by ID number only. The study monitors safety during procedures and collects data on participant identity proof and consent. There are no specific study endpoints as samples support various research projects. Participation can last a year or more, with ongoing review by an ethics committee. The primary outcome measured is the successful collection of samples for research use.

Researchers are studying the effects of adjuvant radiotherapy on patients with non-metastatic breast cancer, focusing on circulating epithelial tumor cells (CETCs) in the blood and their immunohistochemical features. The study compares younger high-risk (premenopausal) and older low-risk (postmenopausal) patients to explore how age influences these cells and immune system markers. The goal is to find potential prognostic biomarkers by analyzing molecular and immune changes during treatment. The study involves patients receiving guideline-based adjuvant radiotherapy after tumor removal, with some also having neoadjuvant or adjuvant chemotherapy. Blood samples are collected at multiple time points during therapy to detect, isolate, and genetically characterize CETCs. Immunophenotyping of peripheral blood mononuclear cells is performed, and tumor tissue is analyzed for immunohistochemical features and tumor-infiltrating lymphocytes. The study also examines therapy-resistant tumor cell phenotypes through in vitro cultivation. Participants will have blood drawn and tissue samples analyzed to track changes in CETCs and immune markers over two years. The study evaluates the relationship between these markers and tumor characteristics, with follow-up monitoring for recurrence-free survival over three years. This research aims to better understand molecular and immune responses to radiotherapy without altering the patients' treatment plans.

Researchers are evaluating a combination of two investigational drugs, sacituzumab govitecan and atezolizumab, as a treatment for patients with triple negative breast cancer who have residual cancer in the breast or lymph nodes and circulating tumor DNA in their blood. This phase II trial aims to determine if these drugs work together to prevent cancer recurrence after prior treatments including chemotherapy and surgery. The study includes patients with HER2-negative, hormone receptor-negative breast cancer who have completed neoadjuvant chemotherapy and locoregional therapy. Participants will receive the combination therapy for 18 weeks, consisting of six cycles of treatment. Atezolizumab is given intravenously on day 1 of each 21-day cycle, while sacituzumab govitecan is given intravenously on days 1 and 8 of each cycle. After completing treatment, participants will be followed every six months for up to three years to monitor their health and cancer status. During the study, participants will undergo screening to confirm eligibility, laboratory tests, stool collection, and regular follow-up visits. Researchers will measure the rate at which circulating tumor DNA becomes undetectable after treatment cycles, as well as track treatment-related side effects and long-term outcomes such as disease-free survival and overall survival over three years. This comprehensive monitoring aims to assess both the immediate and lasting effects of the drug combination.

Researchers are conducting a large observational study to evaluate new biochemical and electrocardiographic markers, both alone and combined with the standard 12-lead exercise ECG, to detect exercise-induced myocardial ischemia, which is linked to coronary artery disease (CAD). The study also aims to assess these markers' ability to predict the risk of cardiovascular death and heart attacks over long-term follow-up. This approach is important since current imaging techniques for CAD detection involve risks, are costly, and mainly provide anatomical rather than functional information. The study involves enrolling about 4200 patients suspected of having exercise-induced myocardial ischemia who are referred for rest or exercise myocardial perfusion SPECT testing. Before the exercise stress test, venous blood samples will be collected to measure various biochemical markers possibly related to ischemia, such as cardiac troponins, B-type natriuretic peptide, IL-6, and cardiac microRNA. Additionally, continuous ECG recordings will be obtained before, during, and after exercise using advanced devices and processing methods to identify new electronic markers. All tests will be analyzed without knowledge of patient clinical data to ensure unbiased results. Participants will undergo the exercise stress testing and blood sampling at baseline. Follow-up will be conducted at 1, 2, 5, and 8 years to record clinical outcomes including death, cardiovascular death, heart attacks, and coronary revascularization. The research team will evaluate the diagnostic usefulness of the new biochemical and ECG signatures at baseline and monitor long-term event-free survival. This comprehensive approach aims to improve non-invasive detection and risk assessment for patients with suspected CAD, potentially simplifying current testing and reducing exposure to radiation and contrast agents.

Researchers are investigating blood biomarkers to improve early screening for Alzheimer's disease (AD). This observational study focuses on patients with AD, mild cognitive impairment (MCI) due to AD, and cognitively normal individuals. The goal is to identify key blood biomarkers suitable for early detection and to build a comprehensive model combining biomarkers and clinical information. The study is sponsored by Peking University First Hospital. Participants will have blood samples taken to test for specific biomarkers including Aβ40, Aβ42, P-Tau181, P-Tau217, GFAP, and NfL. These tests aim to evaluate their diagnostic accuracy for Alzheimer's and MCI. The study will observe individuals at different stages of cognitive health to understand how these biomarkers perform across groups. During the two-year study period, participants will undergo cognitive assessments and blood draws as part of the evaluation. Researchers will monitor the accuracy of these biomarkers in diagnosing AD and MCI. The study also aims to develop a model that combines blood biomarker results with clinical information to aid early identification. Participation involves regular assessments and cooperation with blood sampling and cognitive testing.