Biomarkers of Response to Systemic Treatments in FH-deficient RCC
NCT05243173 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 100
Last updated 2022-08-16
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.
Conditions
- Metabolomics
- Renal Cell Carcinoma
- FH-Deficient RCC
- Systemic Treatments
Interventions
- OTHER
-
Sequencing
Laboratory analysis of samples
Sponsors & Collaborators
-
RenJi Hospital
lead OTHER
Eligibility
- Min Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2022-05-25
- Primary Completion
- 2024-06-30
- Completion
- 2024-06-30
Countries
- China
Study Locations
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