Von Hippel-Lindau Disease

Researchers are evaluating the diagnostic value of a new protein-specific probe called 18F-T2 in PET/CT imaging for people with solid tumors that are likely to express high levels of CAIX protein. The study will also assess how safe and tolerable the 18F-T2 injection is, as well as measure its radiation dosage. This research is important to better understand how well 18F-T2 can detect these tumors compared to standard imaging techniques. Participants with tumors suspected to express high levels of CAIX will receive an intravenous injection of 18F-T2. About an hour after the injection, PET/CT imaging will be performed to capture detailed images of the tumors. Within one week, participants will also undergo a whole-body PET/CT scan using 18F-FDG, a commonly used imaging agent, to allow comparison between the two imaging methods. During the study, participants will be monitored for any adverse events within 24 hours after the 18F-T2 injection to evaluate safety and tolerability. Researchers will measure the diagnostic sensitivity and specificity of 18F-T2 PET/CT for detecting CAIX-positive tumors. They will also assess uptake values in tumors on both 18F-T2 and 18F-FDG scans, analyze the correlation between 18F-T2 uptake and CAIX expression in tissue samples, and evaluate radiation dosimetry. The study will continue until one month after completion for outcome assessments.

Researchers are developing and managing the AnovaOS Network Powered Patient Registry to collect real-world patient data across various diseases globally. This registry aims to capture meaningful clinical information on diagnosis, infection course, treatments, and outcomes to enhance understanding and support future clinical trials and observational studies. The registry serves as a resource to better understand, prevent, diagnose, and treat diverse health conditions. Participants' data will be gathered through this registry, which can also be used to recruit individuals for clinical trials and observational studies on promising therapies. The registry collects ongoing information on patients' health status and treatments, enabling long-term monitoring and analysis. This observational study does not involve administering treatments but focuses on data collection and management. Participants will provide information through questionnaires or instruments, either personally or via an informed proxy, with an expected follow-up once per year. The research team will assess natural history, clinical effectiveness, safety, and quality of care over a period of five years. The registry includes patients with a wide range of conditions, and participation requires informed consent and the ability to complete follow-up data collection.

Researchers are evaluating the efficacy and safety of belzutifan monotherapy in participants with advanced pheochromocytoma/paraganglioma (PPGL), pancreatic neuroendocrine tumor (pNET), von Hippel-Lindau (VHL) disease-associated tumors, advanced wild-type gastrointestinal stromal tumor (wt GIST), or advanced solid tumors with hypoxia inducible factor-2 alpha (HIF-2b1) related genetic alterations. This phase 2 study aims to measure how well belzutifan works by assessing the objective response rate (ORR) using standardized criteria reviewed independently by experts. Participants will take belzutifan orally at a dose of 120 mg once daily. Treatment will continue until the disease progresses or the participant chooses to stop. This regimen is the only treatment being evaluated, with no placebo or comparison group involved. Throughout the study, participants will be monitored for treatment response and safety for up to approximately 5.5 years. Assessments include reviewing tumor response, duration and time to response, disease control, progression-free and overall survival, and recording any adverse events or reasons for stopping treatment. The study also tracks the time to surgery when applicable, providing comprehensive long-term monitoring during participation.

Researchers are investigating the usefulness of family-based whole-genome sequencing (WGS) to identify cancer predisposition syndromes (CPS) in children and adolescents newly diagnosed with cancer. These syndromes are caused by inherited mutations in cancer predisposition genes and are linked to a higher risk of developing certain cancers. The study aims to understand how often CPS occurs in this population and the impact of germline sequencing on patients and their families. This is a multicenter prospective observational study focusing on clinical benefits and utility of WGS compared to traditional clinical information. Participants will undergo family-based germline whole-genome sequencing to identify genetic variants related to cancer predisposition. The results will be discussed in multidisciplinary meetings, and referrals to Cancer Genetics Clinics for further evaluation and genetic counseling may be recommended. Additionally, the study includes a psychosocial component to assess how the sequencing process affects patients and their families. The study follows patients for up to five years to analyze psychological impact and cost-effectiveness. During the study, researchers will collect detailed family cancer histories and monitor genetic findings, including inherited and new mutations. The primary outcome measures focus on comparing the detection of CPS by WGS versus clinical factors over two years. Secondary outcomes include mutation types, test turnaround times, surveillance adherence, and psychological effects assessed over five years. Participants will be closely followed to evaluate diagnostic accuracy, genetic counseling outcomes, and the broader impact of sequencing on care and family well-being.

Researchers are studying genetic factors and molecular pathways involved in various genitourinary cancers, including kidney, prostate, bladder, testis, and penile cancers. These cancers represent a significant portion of cancer diagnoses and deaths in the United States. The study aims to understand the differences between normal and cancerous tissues, investigate gene and protein markers, and examine responses to current and new treatments. The research also includes quality of life studies in men with prostate cancer and explores inherited conditions linked to increased cancer risk. Participants include individuals with biopsy-proven or suspected malignant genitourinary diseases, those with known or suspected inherited cancer disorders, and family members related by blood to affected individuals. Blood and urine samples may be collected, and tissue samples—both benign and malignant—may be obtained during clinically necessary surgeries. The study involves genetic sequencing and molecular analysis of collected specimens, with ongoing investigations into gene mutations and biochemical pathways. During participation, patients will be seen at the Urologic Oncology Branch, where samples will be collected and stored for research. Participants may be contacted if findings relevant to their health arise, with the opportunity for further evaluation. The study involves ongoing assessments of quality of life and molecular genetic outcomes. Participation includes signing informed consent, and the study accommodates both adult and pediatric patients, tracking molecular and clinical data over time.

Researchers are collecting information from patients with Von Hippel Lindau (vHL) disease to better understand how the disease develops and affects quality of life. This study aims to gather both past and ongoing data about lesions, surgeries, and systemic treatments. It also explores how different genetic mutations relate to disease patterns and response to a specific treatment called belzutifan. Participants will provide data on their disease status, surgical history, and any treatments received. The study looks at genetic and clinical information to assess lesion development and treatment response by organ type. Quality of life information is also collected to understand the impact of vHL disease from the patient's perspective. During the study, participants will be monitored for disease progression, with progression-free survival tracked for about one year on average. This observational study involves ongoing data collection through clinical records and patient reports. Participation includes signing consent and may involve providing medical history and quality of life assessments. The study is sponsored by M.D. Anderson Cancer Center and runs until the end of 2026.

Researchers are evaluating new treatments for advanced solid tumors and tumors related to von Hippel-Lindau (VHL) disease, a genetic condition that increases cancer risk. This extension trial focuses on a medicine called belzutifan, which targets a protein that helps tumors grow. The study aims to understand the long-term effects of belzutifan, including how long participants live after starting the treatment. Only people who took part in specific earlier belzutifan studies may join this extension trial. Participants who were receiving belzutifan alone or in combination with other therapies in a previous study will continue their same dose and treatment schedule in this extension. Those who received non-belzutifan treatments are also included and will maintain their prior therapy. Treatment continues until cancer progresses, unacceptable side effects occur, consent is withdrawn, death, investigator decision, or study ends. During the study, participants will be closely monitored with regular visits to track their overall survival and any side effects. Researchers will observe for adverse events and reasons for stopping treatment for up to about 7 years. The study involves evaluations of safety and effectiveness while participants remain on their assigned treatments, with ongoing follow-up to understand long-term outcomes.

This research investigates hereditary cancer predisposition by identifying novel genes and genetic variants that may contribute to familial cancer. While hereditary factors are known to cause some cancers, many causes remain unknown. The study focuses on families with cancer clustering, aiming to better understand genetic links to improve diagnosis and care for hereditary cancer. Participants provide blood or saliva samples and medical and family history information. Leftover tumor samples may also be collected when available. Samples are stored in a biorepository and studied using next generation sequencing to detect gene changes. Some participants may provide skin samples if they had bone marrow transplants without available pre-transplant DNA. Participants may be contacted yearly for health and family history updates. During the study, researchers analyze DNA and other biological samples to find mutations linked to cancer. This includes sequencing, genetic and cellular studies, and possibly stem cell analyses. Personal information is removed, and samples remain in the repository for future research. The primary outcome is identifying new cancer predisposing genes, with follow-up of up to 20 years from study start.

Researchers are studying Birt-Hogg-Dube (BHD) syndrome, a rare inherited condition that causes benign skin tumors and increases the risk of kidney cancer. The study aims to understand the types and characteristics of kidney tumors linked to BHD, the risk of kidney cancer in affected individuals, whether more than one gene causes BHD, and the genetic mutations responsible for the disorder. The research also explores connections between genetic changes and disease symptoms.

Neuroendocrine neoplasms (NENs) are a diverse group of tumors that arise from hormone-producing cells and can develop in various organs. Their behavior ranges from benign to aggressive, sometimes causing serious health problems due to excess hormone production. Many NENs are inherited or part of genetic syndromes, while others arise from non-inherited genetic changes. This research aims to identify genetic defects causing NENs in a large group of Mexican patients, improving understanding of their molecular causes and potential treatment targets. This study collects blood and tissue samples from adult patients with different types of NENs at two hospitals in Mexico City. Participants undergo genetic testing using three methods: targeted gene sequencing, analysis of gene copy number changes, and full exome sequencing in selected cases. The study also gathers detailed clinical, laboratory, imaging, and pathology information, and offers genetic screening to family members when appropriate. Samples and data are carefully stored and analyzed to detect genetic variants associated with NENs. Participants provide blood and, when possible, tumor tissue samples for DNA analysis. Researchers collect clinical and family history data, along with laboratory and imaging results. The main outcome is identifying genetic defects linked to NENs over a follow-up period of up to 15 years. Participants who want to know their genetic results receive detailed reports. The study seeks to correlate genetic findings with clinical features and outcomes, aiming to discover new genetic associations and improve future diagnosis and treatment strategies.