Genomic Sequencing

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.

Childhood obesity is a growing global health concern linked to serious health problems such as type 2 diabetes, high blood pressure, certain cancers, and mental health challenges. Researchers are evaluating a digital support system called Evira to help improve treatment outcomes for children with obesity. This randomized controlled study aims to assess the effects of adding Evira to the usual lifestyle treatment for childhood obesity in children aged 4 to 17 years. The study compares two groups: one receiving Evira Care combined with standard lifestyle treatment, and the other receiving standard lifestyle care alone. Evira Care involves daily weight monitoring at home using a special scale connected to a mobile app and website, allowing parents and clinicians to track weight changes and communicate easily. The intervention group will receive guidance on how to use the system and make feasible lifestyle changes, with weight targets set for the first three months. The control group continues with standard care without restrictions on visits or clinical support. Participants will be involved for 12 months, undergoing clinical exams including puberty assessment, cardio-respiratory, thyroid, skin, and abdominal checks, along with measurements of weight, height, and blood pressure. Blood tests may be done as needed. All participants will complete questionnaires about quality of life, eating disorders, and treatment satisfaction. Researchers will monitor weight change as the primary outcome, along with treatment compliance and psychosocial health measures, while collecting information on any side effects.

This research focuses on kidney transplant patients to collect blood samples and clinical data for developing a non-invasive test that detects donor-derived cell-free DNA (dd-cfDNA) to assess the condition of transplanted kidneys. The study is prospective and multicenter, involving participants who have had a kidney transplant and are undergoing an indication biopsy. The goal is to improve monitoring of the transplanted organ's status. Participants will provide whole blood samples at the time of their indication biopsy, before the biopsy procedure itself. Additionally, leftover de-identified retrospective genomic DNA (gDNA) samples from the kidney donors will be collected for paired analysis. This approach helps researchers study dd-cfDNA in a real-world transplant population. Participants will be involved through blood sample collection and clinical data gathering during their biopsy visits. Researchers will monitor the detection of donor-derived cell-free DNA in whole blood over an 18-month period. The study involves no investigational treatments, focusing on observation and sample analysis. Participation duration and follow-up details align with the biopsy schedule and sample collection requirements.

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 tolerability of single and multiple increasing doses of GenSci098 given under the skin in patients with active thyroid eye disease (TED) related to Graves' disease. This Phase 1 clinical trial aims to understand how the body processes this drug and to monitor for any side effects. The study is sponsored by Changchun GeneScience Pharmaceutical Co., Ltd. Participants will receive subcutaneous injections of GenSci098 at one of five dose levels (15mg, 45mg, 90mg, 180mg, or 270mg) or a matching placebo. The study includes two parts: a single ascending dose (SAD) phase where participants receive one dose, and a multiple ascending dose (MAD) phase where participants receive repeated doses. The study uses a randomized and quadruple-blind design to compare GenSci098 and placebo. During the study, participants will be monitored for adverse events through physical exams, vital signs, laboratory tests, and ECGs over periods of up to 169 days in the SAD part and 281 days in the MAD part. Researchers will also measure how GenSci098 moves through and acts in the body, including antibody responses. Participants will be asked to comply with study treatments and assessments until the study ends.

Researchers are evaluating GenSci098, a drug given as single ascending subcutaneous doses, in adults with Graves' Disease to study its safety and tolerability. This phase 1 clinical trial aims to understand the effects of GenSci098 on patients with confirmed diffuse toxic goiter and abnormal thyroid function. The study is sponsored by Changchun GeneScience Pharmaceutical Co., Ltd. and focuses on monitoring adverse events and drug behavior in the body. Participants will receive only one dose of GenSci098 injected under the skin at one of several dose levels. The study includes a follow-up period lasting 141 days, during which safety and tolerability will be assessed. There is no placebo or control group, and the trial is not blinded. The focus is on careful monitoring after the single dose administration. Throughout the study, participants will undergo physical exams, vital sign checks, laboratory tests, and 12-lead electrocardiograms to detect any adverse effects. Researchers will track the incidence and severity of adverse events during the 141-day observation window. Participants must comply with the follow-up schedule and study requirements to ensure accurate safety monitoring and data collection.

Researchers are evaluating oral Alintegimod (7HP349) alone and in combination with ipilimumab, followed by nivolumab monotherapy, in patients with locally advanced or metastatic cancers who have received one or more prior therapies. This open-label Phase Ib dose escalation study is followed by a blinded, randomized multi-cohort Phase 2a comparison of combination versus reference regimens, aiming to assess safety, tolerability, and preliminary efficacy. Participants will receive Alintegimod monotherapy in escalating doses for one cycle, then Alintegimod combined with ipilimumab for four cycles, followed by nivolumab monotherapy for eleven cycles. Alintegimod is given orally as softgel capsules, while ipilimumab and nivolumab are administered intravenously. The treatment continues until the end of the study period, lasting 12 months, unless disease progression or toxicity requires early termination. Throughout the study, participants will undergo assessments including adverse event monitoring, pharmacokinetic testing, and tumor response evaluations using RECIST criteria. Researchers will measure treatment-related side effects, drug levels in the blood, progression-free survival, and overall response rates. Safety will be closely monitored over 18 months, with participants expected to attend regular visits for clinical evaluations and laboratory tests during the study duration.

Researchers are studying cardiomyopathy, a major cause of heart failure that can lead to sudden cardiac death and often requires heart transplantation when standard treatments fail. This condition poses serious health risks, especially among young and middle-aged individuals, and impacts families emotionally. The study focuses on improving genetic diagnosis of cardiomyopathy in Korean patients by addressing the lack of population-specific genetic data and aims to find new disease mechanisms and diagnostic approaches through comprehensive genome analysis. The study collects clinical and genomic data from patients diagnosed with cardiomyopathy using whole genome sequencing (WGS). Blood samples are taken during outpatient visits or hospital stays, and demographic, clinical, imaging, and laboratory data are gathered. These data are integrated for detailed analysis to create a genetic profile specific to the Korean population. The study is part of a larger national project supported by Korean health agencies. Participants provide informed consent and undergo blood draws for genomic testing. Clinical information, imaging such as echocardiography and cardiac MRI, and cardiovascular event records are collected and securely stored without personal identifiers. Researchers will evaluate genomic profiles at enrollment and monitor cardiovascular events for up to five years. The study ensures confidentiality and follows standard heart failure care guidelines, with data used to enhance understanding and diagnosis of inherited cardiomyopathies.