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Female Urogenital Diseases and Pregnancy Complications

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Neoplasms, Connective Tissue

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Abnormalities, Multiple

Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

BAP1 Tumor Predisposition Syndrome

Hereditary Renal Cell Carcinoma

Hereditary Leiomyomatosis and Renal Cell Cancer

Patients with known or suspected heritable kidney cancer syndromes, including VHL and HLRCC Disease.

Family members (related by blood) of patients who have or are suspected of having heritable kidney cancer syndromes, including VHL and HLRCC Disease.

Patients and biologic family members with a heritable kidney cancer syndrome of suspected, but not proven genetic etiology.

Next generation sequencing of blood, urine and/or benign and malignant tissue of patients and family members with known or suspected heritable kidney cancer syndromes, including VHL and HLRCC Disease.

Gene test

Yunze Xu, Ph.D.

Qi Lu

Jin Zhang

This study will investigate the frequency, clinical phenotype, management and molecular genetic defects of heritable kidney cancer syndromes. Families with kidney cancer with known or suspected genetic basis will be enrolled. Affected individuals or individuals suspected of having a germline kidney cancer will undergo periodic clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed in situations in which the genetic basis of the disorder has not been elucidated. This research will have a significant impact on the overall management of heritable kidney cancer syndromes patients and family members who are at risk for heritable kidney cancer syndromes. The study will ultimately facilitate the development of novel screening, prevention and treatment strategies for these individuals with the syndrome. In addition this study could have impact on the management of patients with personal and/or family history of heritable kidney cancer syndromes.

Background:

• The genetic etiology of heritable kidney cancer syndromes remains to be determined.

Objectives:

* Define the risk of developing renal cance in heritable kidney cancer syndromes
* Define the types and characteristics (including patterns of growth) of heritable kidney cancer syndromes.
* Determine genotype/phenotype correlations.
* To characterize the natural and clinical histories of heritable kidney cancer syndromes.
* To determine the genetic etiology of heritable kidney cancer syndromes.

Design:

* These rare families will be recruited to genetically confirm diagnosis, determine size and location of renal tumors, size at presentation, growth rate and metastatic potential of renal tumors.
* Genetic testing will be offered to gain appreciation of the effect of mutations on the relative activity of various germline and somatic mutations.
* To determine if there is a relationship between mutation and disease manifestations and phenotype.

Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes

Genotyping for genetic variants that could modify the risk of cancer in subjects.

Questionnaire and chart review of the clinical phenotype

Frequency of germline pathogenic/likely pathogenic variants in renal cancer

Ruijin Hospital

Shanghai Zhongshan Hospital

Huashan Hospital

Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Zhejiang Provincial People's Hospital

Tongji Hospital

Second Affiliated Hospital, School of Medicine, Zhejiang University

Shanghai 10th People's Hospital

First Affiliated Hospital, Sun Yat-Sen University

Peking University First Hospital

RenJi Hospital

Leiomyomatosis

Joshua Mann, MPH

MyVHL is a multi-patient database which helps researchers identify patterns across VHL patients. MyVHL provides you -and researchers -with more complete information about VHL, like how your lifestyle, medications, and other factors impact the disease and quality of life. These insights help you better understand the condition and help researchers know where to focus their efforts.

Due to its rarity, there is less understanding of VHL and the factors that may have an impact. The data individuals provide in MyVHL helps researchers identify and uncover factors that may increase risk, inhibit or slow tumor growth, or lead to an effective cure.

MyVHL: Patient Natural History Study

When participant information is stored, the investigators are careful to protect any patient identifying information from discovery by others. Strict security safeguards are in place to reduce the chance of misuse or unplanned release of information.

Researchers will only use participant information in a de-identified manner. De-identified means that the researchers will use participant information without knowing their identity. In some cases, they may use some identifying information about the participant for research purposes, subject to an approval process through the VHL Alliance MyVHL Research Committee. At times, the researchers will use participant information with a code, instead of their name; the code would allow results of the research to be linked back to the participant.

Data regarding changes in number of CNS, kidney, adrenal, retinal, ear, and pancreatic tumors, along with cystadenomas and lesions in the lungs, liver and skin, over a lifetime.

Data regarding changes in size of CNS, kidney, adrenal, retinal, ear, and pancreatic tumors, along with cystadenomas and lesions in the lungs, liver and skin, over a lifetime.

National Organization for Rare Disorders

Director of Health

Carcinoma, Transitional Cell

Adenocarcinoma, Clear Cell

Adenomyoepithelioma

Transitional Cell Carcinoma

Papillary Renal Cell Carcinoma

Chromophil Renal Cell Carcinoma

Chromophobe Renal Cell Carcinoma

Epithelial-myoepithelial Carcinoma

Fumarase Deficiency

Pharmaceutical Solutions

All Drugs and Chemicals

Amino Acids

Glutamine

Patients in the 13C-glucose arm will receive an infusion of a 13C-glucose solution. In most cases, the glucose infusion will be administered for 2-3 hours prior to resection of the mass. During the surgical procedure, 2-4mL of blood will be obtained approximately every 30 minutes to monitor blood glucose and/or blood pH. The infusion will be stopped after resection.

13C-Glucose

Patients in the 13C-acetate arm will receive an infusion of a 13C-acetate solution. In most cases, the acetate infusion will be administered for 2-3 hours prior to resection of the mass. During the surgical procedure, 2-4mL of blood will be obtained approximately every 30 minutes to monitor blood glucose and/or blood pH. The infusion will be stopped after resection.

13C-Acetate

Patients in the 13C-lactate arm will receive an infusion of a 13C-lactate solution. In most cases, the lactate infusion will be administered for 2-3 hours prior to resection of the mass. During the surgical procedure, 2-4mL of blood will be obtained approximately every 30 minutes to monitor blood glucose and/or blood pH. The infusion will be stopped after resection.

13C-Lactate

Patients in the 13C-glutamine arm will receive an infusion of a 13C-glutamine solution. In most cases, the glutamine infusion will be administered for 2-3 hours prior to resection of the mass. During the surgical procedure, 2-4mL of blood will be obtained approximately every 30 minutes to monitor blood glucose and/or blood pH. The infusion will be stopped after resection.

13C-Glutamine

Patients in the 13C-fructose arm will receive an infusion of a 13C-fructose solution. In most cases, the fructose infusion will be administered for 2-3 hours prior to resection of the mass. During the surgical procedure, 2-4mL of blood will be obtained approximately every 30 minutes to monitor blood glucose and/or blood pH. The infusion will be stopped after resection.

13C-Fructose

Vitaly Margulis, MD

Ralph J DeBerardinis, MD, PhD

Vitaly Margulis

The purpose of this study is to understand the metabolism of cancers involving the kidney, including renal cell carcinomas and urothelial cell carcinomas, and how kidney cancers use different types of fuel to support tumor growth. This study uses specially labeled nutrient tracers of compounds normally found circulating in the blood. The nutrients (glucose, fructose, glutamine, acetate, and lactate) are also found in common foods. A nutrient tracer will be given to the participants through an intravenous (IV) catheter during surgery or biopsy, and blood will be collected every 30 minutes during the infusion to monitor safety parameters and the nutrient tracers. The investigators will collect a tissue sample after the completion of surgery. Participants not having an infusion will have their tissue collected after surgery or biopsy.

Participation in this study will not change patient care. All patients will receive standard of care treatment as determined by their doctors.

The purpose of this study is to understand the metabolism of kidney cancers (renal cell carcinomas and urothelial cell carcinomas involving the kidney) in patients. Metabolism is the term used to describe how cells take up different nutrients and convert them to energy and materials needed for cell growth. In cancer, metabolism is hijacked to support the needs of cancer cells. Cancer cells can use multiple nutrients in the blood to fuel their growth, but it is not known what materials cancer cells make with those nutrients in patients.

Many participants in this study will be infused with a 13C-labeled nutrient during their surgery or biopsy. 13C means that the carbon in the nutrient is heavier than 12C carbons that are the most abundant carbon atoms in nature. 13C carbons account for about 1% of natural carbon atoms are not radioactive or harmful in any way. Using the tissue collected during or after surgery and/or biopsy, the researchers can track how the heavier 13C carbons from the infused nutrient are being used to make different materials that cancer cells need to grow.

The researchers hope to understand how kidney cancers change their metabolism to adapt, grow, and survive in patients. The knowledge learned from this study will be used to support the development of therapies that target metabolic adaptations, and the development of new non-invasive imaging techniques that will improve the care and survival of future kidney cancer patients.

An Investigation of Kidney and Urothelial Tumor Metabolism in Patients Undergoing Surgical Resection and/or Biopsy

Tissue and blood samples will be analyzed for 13C isotopologue distributions (percent) in central carbon metabolites using mass spectrometry. This allows the Investigators to understand how different subtypes of kidney and urothelial cancers alter utilization of the 13C tracers.

Howard Hughes Medical Institute

National Cancer Institute (NCI)

University of Texas Southwestern Medical Center

Principal Investigator, Professor of Urology

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes	NCT05534854	Renal Tumor His... Kidney Cancer Renal Cell Carc... Familial Renal ... HLRCC VHL Syndrome BAP1 Tumor Pred... FLCN Gene Mutat... ALK Gene Mutati... FH Gene Mutatio... Birt-Hogg-Dube ... MET Gene Mutati... Cutaneous Leiom... Cutaneous Leiom...	Gene test	2 Years -	RenJi Hospital
MyVHL: Patient Natural History Study	NCT03749980	Von Hippel-Lind... Hereditary Leio... Birt-Hogg-Dube ... SDHB Gene Mutat...		-	VHL Alliance
MyVHL: Patient Natural History Study	NCT03749980	Von Hippel-Lind... Hereditary Leio... Birt-Hogg-Dube ... SDHB Gene Mutat...		-	VHL Alliance
An Investigation of Kidney and Urothelial Tumor Metabolism in Patients Undergoing Surgical Resection and/or Biopsy	NCT04623502	Kidney Cancer Renal Cell Carc... Clear Cell Carc... Urothelial Carc... Metastatic Kidn... Metastatic Urot... Papillary Renal... Chromophobe Ren... Fumarate Hydrat... Succinate Dehyd... HLRCC Hereditary Leio...	13C-Glucose 13C-Acetate 13C-Lactate 13C-Glutamine 13C-Fructose	18 Years -	University of Texas Southwestern Medical Center
Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes	NCT05534854	Renal Tumor His... Kidney Cancer Renal Cell Carc... Familial Renal ... HLRCC VHL Syndrome BAP1 Tumor Pred... FLCN Gene Mutat... ALK Gene Mutati... FH Gene Mutatio... Birt-Hogg-Dube ... MET Gene Mutati... Cutaneous Leiom... Cutaneous Leiom...	Gene test	2 Years -	RenJi Hospital

Spots Global Cancer Trial Database for hlrcc

Every month we try and update this database with for hlrcc cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Spots Global Cancer Trial Database for hlrcc

Every month we try and update this database with for hlrcc cancer trials from around the world to help patients and their families find trials that might be right for them. We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Every month we try and update this database with for hlrcc cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.