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Von Hippel-Lindau Disease clinical trials

View clinical trials related to Von Hippel-Lindau Disease.

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NCT ID: NCT06391879 Recruiting - Clinical trials for Renal Cell Carcinoma

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

Start date: September 8, 2023
Phase:
Study type: Observational

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.

NCT ID: NCT06195150 Recruiting - Clinical trials for Clear Cell Renal Cell Carcinoma

Overtaking Intra and Inter Tumoral Heterogeneity In Von Hippel-Lindau Related Renal Cancer

ITHORinVHL
Start date: November 8, 2023
Phase:
Study type: Observational [Patient Registry]

The goal of this study is to comprehensively map intra and inter tumor heterogeneity of ccRCC in VHL patients through the use of imaging, molecular biology and genomics techniques.

NCT ID: NCT06194669 Recruiting - Clinical trials for Carcinoma, Renal Cell

Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells

SoMuKT
Start date: June 30, 2023
Phase:
Study type: Observational

The goal of this observational study is to analyze somatic mutations in the genome of normal kidney cells from patients affected by kidney cancer predisposition syndrome Von Hippel Lindau (VHL) and compare the mutation rates observed in these patients and in individuals not affected by the disease. The main questions the study aims to answer are: - Do kidney cells from VHL patients mutate more than cells from control individuals during adult life? - What mechanisms favor somatic mutation occurrence in the genome of normal kidney tubule cells? Participants will donate one blood sample and multiple urine samples. Urines will be used for kidney cell isolation, followed by cell culturing and genetic analyses. Urine samples will be collected once a year for 3-5 years. Sample collection will occur during the yearly screening program that each patient undergoes at the hospital. In case patients undergo surgical treatment of kidney tumors, samples discarded from surgery (tumor and normal kidney adjacent to tumor) will be collected and subjected to genetic analyses. Researchers will compare the number and types of mutations found in tumors and normal kidney cells from VHL-disease patients with those found in normal kidney cells from control individuals, to see if somatic mutation rates are increased in VHL-disease patients during aging.

NCT ID: NCT05955014 Recruiting - Clinical trials for Von Hippel Lindau Disease

Data Collection Protocol for Patients With Von Hippel Lindau Disease

Start date: August 24, 2023
Phase:
Study type: Observational

To collect information from patients with vHL disease. Information collected will include data on the status of the disease, any surgeries or therapies patients have received for vHL disease, and quality of life.

NCT ID: NCT05843305 Not yet recruiting - Solid Tumor Clinical Trials

A Study of BPI-452080 in Subjects With Solid Tumors

Start date: April 28, 2023
Phase: Phase 1
Study type: Interventional

This open-label Phase 1 study will evaluate the efficacy and safety of BPI-452080 in patients with Solid Tumors

NCT ID: NCT05810246 Recruiting - Clinical trials for Von Hippel-Lindau Disease

68Ga-NY104 PET/CT in Von Hippel-Lindau Disease

Start date: May 1, 2023
Phase: Phase 2
Study type: Interventional

This is a prospective, single-center, single-arm, diagnostic phase 2 study in patients with von Hippel-Lindau disease. VHL disease is a rare syndrome characterized by VHL gene mutation and HIF activation. Although genetic testing is available, the manifestations of the syndrome are protean; therefore, imaging plays a crucial role in the identification of abnormalities and subsequent follow-up of lesions. For now, conventional imaging serves as the main radiologic modality in the characterization of VHL disease. In this study, we aim to evaluate the sensitivity of 68Ga-NY104 PET/CT in patients with VHL disease. 68Ga-NY104 is a novel small molecule PET tracer targeting carbonic anhydrase IX, which is a down-streaming target of HIF and overexpressed in HIF activation. 68Ga-NY104 PET/CT is likely to function as a sensitive imaging tool to identify VHL-related tumors and to impact patient management if additional lesions are identified. The hypotheses of this study are that - 68Ga-NY104 PET/CT can be used as an effective imaging modality in VHL syndrome with high sensitivity - 68Ga-NY104 PET/CT may detect lesions that are missed on conventional imaging and can result in management impact. A total of 19 patients will be recruited at Peking Union Medical College Hospital. As an exploratory end-point, a 68Ga-NODAGA-LM3 PET/CT sub-study will be performed in patients with evidence of neuroendocrine tumors.

NCT ID: NCT05737602 Recruiting - Genetic Disorder Clinical Trials

Promoting Stress Management and Resilience Among Individuals With Von Hippel- Lindau Disease

Start date: July 1, 2024
Phase: N/A
Study type: Interventional

The Relaxation Response Resiliency Program (3RP) has shown efficacy in improving coping and resilience across diverse populations; however, little is known about how it helps individuals manage the challenges of living with a chronic illness. This study proposes to pilot test an adapted version of the 3RP among patients living with VHL.

NCT ID: NCT05534854 Recruiting - Clinical trials for Renal Cell Carcinoma

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

Start date: October 1, 2022
Phase:
Study type: Observational

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.

NCT ID: NCT05424016 Recruiting - Clinical trials for Von Hippel-Lindau Disease

Propranolol and Von Hippel-Lindau Disease

PRO-HEB
Start date: January 16, 2023
Phase: N/A
Study type: Interventional

Propranolol (beta-blocker), is successfully used for the treatment of infantile hemangiomas, the most common vascular tumor of newborns. The mechanism is related to its anti-angiogenetic and pro-apoptotic effects. Recently, in vitro studies demonstrated that propranolol decreased the expression of target genes of the HIF (hypoxia-inducible factor, of which the VHL gene is the main regulator) pathway in hemangioblastoma cells and affected their viability. The efficacy of propranolol (stabilization of all HB and decrease in serum VEGF levels) was demonstrated in a phase III study, but only in retinal BHs . The only study that evaluated the effect of propranolol on CNS HB was retrospective and involved a limited number of patients. Nevertheless, it showed a decrease in the growth rate of HBs. The investigator therefore propose to carry out a randomized controlled trial to study the effect of propranolol on the growth of CNS HB in patients with VHL disease (von Hippel-Lindau). The hypothesis of the present work is the following: the use of propranolol in VHL patients with CNS HB allows to decrease and/or slow down the tumor growth.

NCT ID: NCT04924075 Recruiting - Clinical trials for Pancreatic Neuroendocrine Tumor

Belzutifan/MK-6482 for the Treatment of Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Solid Tumors With HIF-2α Related Genetic Alterations (MK-6482-015)

Start date: August 12, 2021
Phase: Phase 2
Study type: Interventional

This is a study to evaluate 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 Gastrointestinal Stromal Tumor (wt GIST), or Advanced Solid Tumors With hypoxia inducible factor-2 alpha (HIF-2α) related genetic alterations. The primary objective of the study is to evaluate the objective response rate (ORR) of belzutifan per Response Evaluation Criteria in Solid Tumors Version 1.1 (RECIST 1.1) by blinded independent central review (BICR).