Next-Generation Sequencing (NGS)

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 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 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.

Researchers are evaluating the long-term safety of INZ-701, an investigational protein treatment for patients with ENPP1 Deficiency or ABCC6 Deficiency. These rare genetic conditions are linked to gene mutations causing arterial calcification and other complications. The study focuses on patients who have previously received INZ-701 in earlier trials and are continuing treatment to assess ongoing safety. INZ-701 is given as a once-weekly subcutaneous injection. Children aged 1 to under 13 years receive a dose based on their weight (2.4 mg/kg), while participants 13 years and older receive either a 1.8 mg/kg dose or a flat 150 mg dose. The study includes a 30-day screening period followed by an open-label treatment phase. Participants will continue treatment until the drug becomes commercially available or the sponsor stops development, with a safety follow-up visit about 30 days after their last treatment. Participants will be monitored closely throughout the study with safety assessments including tracking treatment-emergent adverse events and the presence of anti-drug antibodies over six years. Additional measures include blood tests for drug concentration and plasma markers related to the condition. The study ensures long-term observation of participants receiving INZ-701 to gather important safety data while supporting their ongoing care.

This research aims to improve genetic education and testing for hereditary cancer risk among Black cancer survivors. It compares a chatbot intervention called a relational agent (RA) to enhanced usual care (EUC) to see which approach better encourages genetic education engagement and testing requests. The study also looks at how these methods affect decision-making processes and psychosocial well-being, and explores ways to support family communication of positive genetic test results through a Family Sharing Portal (FSP). Participants will be randomly assigned to one of two groups: the RA group or the EUC group. The RA group receives a clinical letter and access to the chatbot, which offers tailored genetic education, videos, decision support, and real-time answers, with options to request genetic testing directly through the chatbot. The EUC group receives a clinical letter recommending genetic testing and counseling, with access to clinic websites and support for testing requests. Both groups will have genetic testing results shared with them and their oncologists, with follow-up care tailored accordingly. During the study, participants will complete surveys at baseline, 1 month, and 6 months to assess engagement with genetic education, uptake of genetic testing, decision quality, and psychosocial outcomes. Researchers will monitor how participants use the interventions and their experiences. The study includes adults aged 18 to 80 who self-identify as Black or African American cancer survivors meeting specific criteria. Participation involves online access and comfort with digital tools. The study will last through August 2027, with ongoing data collection and analysis.

Breast phyllodes tumor (PT) is a rare type of breast tumor classified into benign, borderline, and malignant categories based on specific tissue features. Malignant PTs have a high chance of coming back locally and spreading to other parts of the body. Early and accurate diagnosis along with identifying treatment targets is important to improve patient outcomes. This research focuses on using artificial intelligence (AI) to combine clinical, imaging, and genetic data to help diagnose and predict the prognosis of breast PT. The study collects high-quality data from nearly a thousand patients with breast PT, including various medical images such as ultrasound, mammography, CT, and MRI, along with tissue gene sequencing. Researchers aim to build a detailed multi-omics database and develop an AI-based system that can support early diagnosis and predict how the tumor may progress. This system is designed to assist personalized treatment decisions and address care differences across regions. Participants diagnosed with breast PT will contribute their imaging and tissue data. Researchers will assess outcomes like diagnostic sensitivity, false-negative and false-positive rates, and accuracy over five years using statistical measures such as the receiver operating characteristic curve. The study involves no treatment interventions but focuses on observation and data analysis to improve diagnostic tools. The research is sponsored by Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University and started in March 2023, with an expected completion by the end of 2027.

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.

Cancer of the stomach and oesophagus ranks among the world's top five cancers, with poor survival rates due to late presentation and non-specific early symptoms. Researchers are evaluating a non-invasive breath test that detects volatile organic compounds (VOCs) produced by these cancers and associated bacteria. The study aims to improve this test's accuracy by investigating if consuming simple metabolic substrates can increase VOC production from tumors and their bacteria. The study involves two components: AROMA 1 and BIORESOURCE. AROMA 1 will recruit 648 patients divided into three groups: oesophageal cancer, gastric cancer, and control patients with upper gastrointestinal symptoms. Participants will provide breath samples before and after consuming a standard nutrient drink, with samples analyzed using advanced mass spectrometry techniques. BIORESOURCE will collect biosamples including breath, urine, saliva, blood, tissue, and gastric contents from 335 patients for in-depth analysis such as volatalomics, metabonomics, microbiome, transcriptomics, and cell culture studies. Participants will undergo breath sampling at baseline and shortly after the nutrient drink consumption. Biosamples collected in BIORESOURCE will support multi-omic analyses to study VOC production mechanisms. Researchers will measure the efficacy of the nutrient drink in stimulating VOCs in breath over 18 months, along with profiling metabolites and bacteria from various samples. The study includes safety monitoring and will last up to October 2025, with participants followed through treatment-naive stages and control evaluations.

Researchers are studying Canadian cancer patients who have rare genetic changes in their tumors, such as alterations in genes like ALK, EGFR, ROS1, BRAF, and KRAS G12C. These rare molecular alterations can affect how the cancer responds to certain targeted drugs called tyrosine kinase inhibitors (TKIs). The study aims to better understand the natural history of these cancers and compare treatment outcomes, including side effects and patient-reported experiences, across different therapies. The study observes cancer patients who have received or are currently receiving TKIs or other targeted therapies. It includes three groups: living patients with confirmed rare molecular alterations, deceased patients with such alterations, and a comparator group of cancer patients without these rare changes. Patient-reported outcomes are collected through surveys at baseline and every three months, especially when treatments change. Participants provide molecular testing reports and complete quality of life questionnaires regularly for up to 10 years. Researchers track progression-free survival or overall survival, the development of brain metastases, and economic impacts related to treatment. The study collects data from medical records and patient surveys to understand treatment patterns, effectiveness, and quality of life in the real-world Canadian context.