NCT05243173

Biomarkers of Response to Systemic Treatments in FH-deficient RCC

Renji Hospital, School of Medicine, Shanghai Jiao Tong University

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 100 (estimated)
• Sponsor: RenJi Hospital · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Detailed 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

Conditions

• Metabolomics
• Renal Cell Carcinoma
• FH-Deficient RCC
• Systemic Treatments

Interventions

Type	Name	Description
OTHER	Sequencing	Laboratory analysis of samples

Timeline

• Start date: 2022-05-25
• Primary completion: 2024-06-01
• Completion: 2024-06-01
• First posted: 2022-02-16
• Last updated: 2022-08-16

Locations

1 site across 1 country: China