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Renal Cell Carcinoma

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Hereditary Renal Cell Carcinoma

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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

Twenty-five patients will be enrolled in each stage of a two-stage design

PT2385 inhibits HIF-2α and is a novel approach to treatment of VHL disease-associated ccRCC.

PT2385 Tablets

Medical Director

The primary objective of this study is to assess the overall response rate (ORR) of von Hippel-Lindau (VHL) disease-associated clear cell renal cell carcinoma (ccRCC) tumors in VHL patients treated with PT2385.

This open-label Phase 2 study will evaluate the efficacy, safety, PK, and PD of PT2385 in patients with VHL disease who have at least 1 measurable VHL disease-associated ccRCC tumor (as defined by RECIST 1.1). PT2385 will be administered orally and treatment will be continuous. Changes in VHL disease-associated non-ccRCC tumors will also be evaluated.

This is an open-label Phase 2 study that will be conducted with a 2-stage design.

PT2385 for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma

An Open Label Phase 2 Study to Evaluate PT2385 for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma

http://engagezone.msd.com/doc/ProcedureAccessClinicalTrialData.pdf

Overall response rate (ORR) in VHL disease-associated ccRCC tumors

Progression free survival (PFS) in VHL disease-associated ccRCC tumors

Duration of response (DOR) in VHL disease-associated ccRCC tumors

Time to response (TTR) in VHL disease-associated ccRCC tumors

An AE is defined as any untoward medical occurrence in a patient regardless of its causal relationship to study treatment. An AE can be any unfavorable and unintended sign (including any clinically significant abnormal laboratory test result), symptom, or disease temporally associated with the use of the study drug, whether or not it is considered to be study drug related.

National Institutes of Health (NIH)

Peloton Therapeutics, Inc., a subsidiary of Merck & Co., Inc. (Rahway, New Jersey USA)

This cohort incorporates subjects with VHL-related renal cell carcinoma.

The blood specimen of subjects in this cohort would be collected to conduct single cell sequencing, whole genome and metabolomic sequencing.

Single cell sequencing, whole genome and metabolomic sequencing

Kan Gong

Yanyan Yu

VHL syndrome is a rare hereditary tumor syndrome caused by mutation of tumor suppressor gene VHL. One of the most important clinical manifestations and main cause of death is VHL-related renal cell carcinoma (RCC). Facing the challenges of multilesion of both kidneys, slow progress and life-long repeated surgeries in VHL-related RCC, individualized prediction of the best surgical treatment time and reduction of times of surgeries are very important to improve the prognosis of patients with VHL syndrome. Therefore, there is an urgent need to establish a more effective and accurate prediction model for the natural course of VHL syndrome. This cohort-study aims to retrospectively and prospectively analyze the factors related to the natural course of VHL-related RCC. At the same time, some patients were selected for prospectively continuous molecular evolution dynamic monitoring after comprehensively considering the results of single cell sequencing, whole genome and metabonomic sequencing. This study will provide scientific basis for accurate diagnosis and treatment of natural course of VHL-related RCC.

VHL syndrome is a rare hereditary tumor syndrome caused by mutation of tumor suppressor gene VHL. One of the most important clinical manifestations and main cause of death is VHL-related renal cell carcinoma (RCC). Previous small sample studies have confirmed that the natural course of VHL-related RCC is different from that of sporadic RCC. Facing the challenges of multilesion of both kidneys, slow progress and life-long repeated surgeries in VHL-related RCC, individualized prediction of the best surgical treatment time and reduction of times of surgeries are very important to improve the prognosis of patients with VHL-related RCC. Therefore, there is an urgent need to establish a more effective and accurate prediction model for the natural course of VHL syndrome. Based on the previous establishment of the largest biobank of VHL syndrome in Asia, as well as the unique characteristics and genotype-phenotypic relationship of patients in Chinese population, this cohort-study aims to retrospectively and prospectively analyze the factors related to the natural course of VHL-related RCC. At the same time, some patients were selected for prospectively continuous molecular evolution dynamic monitoring after comprehensively considering the results of single cell sequencing, whole genome and metabonomic sequencing. This study will systematically analyze the specific molecular characteristic and evolution of VHL-related different from sporadic RCC, reveal new specific driving genes and their molecular regulatory mechanisms, and establish a multi-dimensional prediction model of natural course of VHL-related RCC based on accurate genotyping. It will provide scientific basis for accurate diagnosis and treatment of natural course of VHL-related RCC.

Establishment of a Multidimensional Prediction Model for the Natural Course of VHL Disease-related Renal Cell Carcinoma

Establishment of a Multidimensional Prediction Model for the Natural Course of VHL Disease-related Renal Cell Carcinoma Based on Accurate Genotyping: a Population-based Study

The tumor size was measured annually and the tumor growth rate was calculated.

OS was calculated as the time interval from the diagnosis of the VHL-related RCC to death or the time to the last follow-up.

CSS was calculated as the time interval from the diagnosis of the VHL-related RCC to death from the same disease or the last follow-up.

Chief physician

Antineoplastic Agents

All Drugs and Chemicals

Belzutifan

Participants receive 120 mg belzutifan orally once daily. Participants may continue to receive belzutifan in the absence of unacceptable treatment related toxicity or unequivocal disease progression.

120 mg once daily (three 40 mg oral tablets once daily).

This study is designed to investigate belzutifan as a treatment for VHL disease associated RCC.

This open-label Phase 2 study will evaluate the efficacy and safety of belzutifan in participants with VHL disease who have at least 1 measurable RCC tumor. Belzutifan will be administered orally and treatment will be continuous. Participants will be evaluated radiologically approximately 12 weeks after initiation of treatment and every 12 weeks thereafter while continuing in the study for a minimum of 3 years and then every 24 weeks or more frequently if clinically indicated. Changes in VHL disease-associated non-RCC tumors will also be evaluated.

A Phase 2 Study of Belzutifan (PT2977, MK-6482) for the Treatment of Von Hippel Lindau (VHL) Disease-Associated Renal Cell Carcinoma (RCC) (MK-6482-004)

An Open-Label Phase 2 Study to Evaluate PT2977 for the Treatment of Von Hippel Lindau Disease-Associated Renal Cell Carcinoma

ORR is defined as the percentage of participants in the analysis population who have a best confirmed response of Complete Response (CR: Disappearance of all target lesions) or a Partial Response (PR: At least a 30% decrease in the sum of diameters of target lesions) per Response Evaluation Criteria in Solid Tumors version 1.1 (RECIST 1.1). ORR will be assessed by independent review committee (ICR) for the primary analysis.

DOR is defined as the interval from the first documented evidence of a CR (disappearance of all target lesions) or a PR (at least a 30% decrease in the sum of diameters of target lesions) per RECIST 1.1 until Progressive Disease (PD) or death due to any cause, whichever occurs first, in participants demonstrating a best confirmed response of CR or PR. Per RECIST 1.1, PD is defined as at least a 20% increase in the sum of diameters of target lesions. In addition to the relative increase of 20%, the sum must also demonstrate an absolute increase of at least 5 mm. The appearance of one or more new lesions is also considered PD.

TTR is defined as the interval from the start of study treatment to the first documentation of a response per RECIST 1.1, and calculated for participants with a best confirmed response of CR (disappearance of all target lesions) or PR (at least a 30% decrease in the sum of diameters of target lesions).

PFS is defined as the interval from the start of study treatment to the first documented PD or death from any cause, whichever occurs first. Per RECIST 1.1, PD is defined as at least a 20% increase in the sum of diameters of target lesions. In addition to the relative increase of 20%, the sum must also demonstrate an absolute increase of at least 5 mm. The appearance of one or more new lesions is also considered PD.

TTS was defined as the interval from the start of study treatment to the date of surgery.

ORR is defined as the percentage of participants in the analysis population who have a best confirmed response of CR (disappearance of all target lesions) or PR (at least a 30% decrease in the sum of diameters of target lesions) per RECIST 1.1.

DOR is defined as the interval from the first documented evidence of a CR (disappearance of all target lesions) or a PR (at least a 30% decrease in the sum of diameters of target lesions) per RECIST 1.1 until PD or death due to any cause, whichever occurs first, in participants demonstrating a best confirmed response of CR or PR. Per RECIST 1.1, PD is defined as at least a 20% increase in the sum of diameters of target lesions. In addition to the relative increase of 20%, the sum must also demonstrate an absolute increase of at least 5 mm. The appearance of one or more new lesions is also considered PD.

An AE is any untoward medical occurrence in a participant regardless of its causal relationship to study treatment. An AE can be any unfavorable and unintended sign (including any clinically significant abnormal laboratory test result), symptom, or disease temporally associated with the use of the study drug, whether or not it is considered to be study drug related.

An SAE is any AE occurring at any dose and regardless of causality that meets any of the following criteria: results in death, is life-threatening, requires inpatient hospitalization or prolongation of existing hospitalization, results in persistent or significant incapacity or substantial disruption of the ability to conduct normal life functions, is a congenital anomaly or birth defect in an offspring of a participant taking study drug, or is an important medical event.

Blood samples for the determination of belzutifan concentration will be collected at pre-specified timepoints before and after treatment administration.

Blood samples for the determination of belzutifan metabolite concentration will be collected at pre-specified timepoints before and after treatment administration.

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
PT2385 for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma	NCT03108066	VHL Gene Mutati... VHL VHL Syndrome VHL Gene Inacti... Von Hippel Von Hippel-Lind... Von Hippel's Di... Von Hippel-Lind... Clear Cell Rena... Clear Cell RCC ccRCC	PT2385 Tablets	18 Years -	Peloton Therapeutics, Inc., a subsidiary of Merck & Co., Inc. (Rahway, New Jersey USA)
Establishment of a Multidimensional Prediction Model for the Natural Course of VHL Disease-related Renal Cell Carcinoma	NCT06391879	VHL Syndrome Renal Cell Carc...	Single cell seq...	18 Years - 80 Years	Peking University First Hospital
Establishment of a Multidimensional Prediction Model for the Natural Course of VHL Disease-related Renal Cell Carcinoma	NCT06391879	VHL Syndrome Renal Cell Carc...	Single cell seq...	18 Years - 80 Years	Peking University First Hospital
A Phase 2 Study of Belzutifan (PT2977, MK-6482) for the Treatment of Von Hippel Lindau (VHL) Disease-Associated Renal Cell Carcinoma (RCC) (MK-6482-004)	NCT03401788	VHL - Von Hippe... VHL Gene Mutati... VHL Syndrome VHL Gene Inacti... VHL-Associated ... VHL-Associated ...	Belzutifan	18 Years -	Peloton Therapeutics, Inc., a subsidiary of Merck & Co., Inc. (Rahway, New Jersey USA)
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 vhl syndrome

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