Biomarkers of Response to Systemic Treatments in FH-deficient RCC

Renal Cell Carcinoma Clinical Trial

Official title: Renji Hospital, School of Medicine, Shanghai Jiao Tong University

Status Recruiting

Clinical Trial Summary

Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare subtype of RCC characterized by germline/somatic mutation of the fumarate hydratase (FH) gene, and is an extremely aggressive tumor, with a propensity to disseminate early even in the setting of a small primary tumor.

Affected individuals or individuals suspected of having a germline FH 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.

Clinical Trial Description

• Discovery and validation of biomarker predicting FH-deficient RCC systemic treatments response

• Analysis for expression level of ctDNA using Next generation sequencing in FH-deficient RCC blood by systemic treatments response

• Analysis for expression level of mRNA using Next generation sequencing in FH-deficient RCC tissue by systemic treatments response

• Analysis for expression level of small molecule metabolites using mass spectrometry in FH-deficient RCC tissue and blood by systemic treatments response

• Analysis for genetic and protein expression at a single-cell level using a novel flow cytometry and RNA-sequencing protocol in FH-deficient RCC tissue and blood.

• Validation of genetic and protein expression using qRT-PCR or IHC in multiple independent cohort.

• Biological biomarkers-clinical factor combined prediction model of FH-deficient RCC systemic treatments response ;

Related Conditions & MeSH terms

• Carcinoma, Renal Cell
• Metabolomics
• Renal Cell Carcinoma

• NCT number: NCT05243173
• Study type: Observational
• Source: RenJi Hospital
• Status: Recruiting
• Start date: May 25, 2022
• Completion date: June 2024