Von Hippel-Lindau Disease

Researchers are evaluating the diagnostic value of a new protein-specific probe called 18F-T2 in PETCT 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, PETCT imaging will be performed to capture detailed images of the tumors. Within one week, participants will also undergo a whole-body PETCT 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 PETCT 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 safety and effectiveness of belzutifan as a single therapy for people with advanced pheochromocytomaparaganglioma, pancreatic neuroendocrine tumors, von Hippel-Lindau disease-related tumors, advanced wild-type gastrointestinal stromal tumors, or other advanced solid tumors with genetic changes related to hypoxia inducible factor-2 alpha. This phase 2 study focuses on measuring the objective response rate using standardized criteria reviewed by an independent central panel. Participants will receive oral belzutifan at a dose of 120 mg once daily. Treatment continues until the disease progresses or the participant chooses to stop. The study does not include a comparison group and follows a single-group design. The study period can last up to about 5.5 years to assess treatment effects and safety over time. During the study, participants will have regular assessments including imaging scans reviewed centrally to evaluate tumor response. Researchers will track outcomes such as duration of response, time to response, disease control rate, progression-free survival, overall survival, and any adverse events experienced. Safety and treatment tolerability will be monitored throughout the study. Participants are expected to remain in the study for several years to gather long-term data on belzutifans effects.

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 the genetic causes and molecular characteristics of urologic cancers including kidney, prostate, bladder, testis, and penile cancers. These cancers make up a significant portion of cancer diagnoses and deaths in the United States. The goal is to better understand gene pathways involved in these malignancies to aid in developing targeted treatments. This observational study collects blood, urine, and tissue samples from individuals with confirmed or suspected malignant disease or inherited urologic cancer risks. Participants include patients with biopsy-proven or suspected malignancies and their blood relatives who may have inherited cancer risks. Samples of blood, urine, and both normal and malignant tissue are collected during clinical visits and surgeries. These specimens are stored in a tissue bank and used for genetic sequencing, protein expression analysis, and research on cancer gene mutations and biochemical pathways. The study also investigates quality of life in men with prostate cancer and responses to existing and novel cancer therapies. During the study, participants undergo eligibility screening and may provide biological samples at initial and periodic visits. Tissue samples are collected during clinically indicated surgeries. Researchers analyze these samples using molecular and biochemical methods to identify genetic differences and markers. Participants may be contacted if significant health-related findings arise. The study involves ongoing assessments of genetic and molecular data and quality of life, continuing over time without a fixed end date.

This observational study focuses on patients with Von Hippel Lindau vHL disease. It aims to collect detailed information about the disease status, including lesion development, surgical history, and systemic therapy use. Researchers seek to understand how different VHL gene mutations relate to patterns of lesion development and responses to the drug belzutifan in specific organs. The study also gathers quality of life data from affected individuals. Participants will not receive any study treatments, as this is a data collection protocol. Information will be gathered both retrospectively and prospectively regarding surgeries, therapies, and lesion progression. The study will observe patients over an average period of one year to assess progression-free survival. Quality of life assessments will also be part of the data collected. During the study, participants will provide medical history and undergo evaluations to document disease progression and treatment responses. Data collected will include clinical status, treatment history, and patient-reported quality of life. The study is sponsored by M.D. Anderson Cancer Center and will continue until December 2026. Participants involvement includes sharing information that helps researchers understand vHL disease better and monitor changes over time.

Researchers are evaluating the long-term effects of belzutifan, a medicine designed to block a protein that helps tumors grow, in people with advanced solid tumors or tumors related to von Hippel-Lindau VHL disease. Advanced tumors are those that have spread or cannot be removed by surgery. This extension study includes participants who were already receiving belzutifan in certain parent trials to understand how long they live after starting the treatment. Participants who were on active treatment in a parent belzutifan study will continue the same dose and frequency of belzutifan or other therapies they were receiving when they join this extension study. Treatments include belzutifan alone, belzutifan combined with other drugs such as nivolumab, lenvatinib, or cabozantinib, or non-belzutifan therapies. Treatment continues until the disease worsens, unacceptable side effects occur, consent is withdrawn, death, investigator decision, or study ends. During the study, participants will be monitored for overall survival for up to approximately 7 years. Researchers will also track any adverse events and reasons for stopping treatment for up to about 2 years. Participants will have regular assessments and follow-ups to collect information on their health and response to treatment throughout the study period.

Researchers are studying familial cancer in children and their families to discover new genetic causes. This observational study focuses on families with a history of cancer to identify novel cancer-predisposing genes and genetic variants. The study aims to expand understanding of hereditary cancer predisposition by using next generation sequencing NGS technologies and establishing a linked data registry and biological sample repository. Participants provide blood samples, saliva, skin samples when needed, and occasionally leftover tumor or bone marrow samples. These biological specimens are stored in a biorepository and analyzed to detect gene changes potentially responsible for familial cancer. Participants may also be asked yearly for updated health and family history information if they agree to future contact. During the study, researchers collect medical and family histories along with biological samples to perform DNA sequencing and other genetic analyses. Samples are coded to protect identity and stored for current and future research. The primary outcome is identifying new cancer-related genes over up to 20 years. Participation involves sample collection and periodic updates, with ongoing confidentiality and long-term monitoring.

Researchers are investigating Birt-Hogg-Dube BHD syndrome, a rare inherited condition that causes benign tumors on the skin and increases the risk of kidney cancer. The study aims to understand the genetic causes of BHD, the types and characteristics of kidney tumors linked with it, and whether more than one gene is involved. It also seeks to explore the risk factors for kidney cancer and other related conditions such as lung cysts and skin lesions in affected individuals. Participants include individuals with known or suspected BHD and their family members. They undergo various assessments including physical exams, review of medical and family history, imaging scans like CT, MRI, ultrasound, and X-rays, blood tests including genetic testing, skin biopsies, cheek swabs, lung function tests, and medical photography of skin lesions. These tests are performed on an outpatient basis, either in one day or over several days. Participants with kidney lesions may be asked to return for periodic follow-up visits every 3 to 36 months to monitor lesion progression. During the study, participants receive counseling about their test results and recommendations. Researchers will track the characteristics of renal tumors, their growth rates, and related genetic factors. The study also collects data on genotype-phenotype correlations and the natural history of BHD-related tumors. Participation involves initial screening and repeated monitoring for some, with the goal of better understanding BHD and its relationship to kidney cancer and other 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.