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

Launched by RENJI HOSPITAL · Sep 6, 2022

Keywords

ClinConnect Summary

This clinical trial is focused on studying heritable kidney cancer syndromes, which are types of kidney cancer that can run in families due to genetic factors. Researchers want to understand how common these syndromes are, how they affect individuals, and the specific genetic changes that might be involved. Families with known or suspected cases of these kidney cancers are invited to participate, where both affected individuals and their family members may be included. The goal is to learn more about the characteristics of these conditions, track how they progress over time, and potentially link specific genetic changes to the way the disease presents in different people.

To be eligible for the trial, participants should be at least 2 years old and either have a diagnosis of a heritable kidney cancer syndrome or have family members who do. The study will involve regular health check-ups and genetic testing to gather important information. While pregnant women cannot participate, this research aims to improve the understanding and management of kidney cancer syndromes, which could lead to better screening, prevention, and treatment options for those affected and their families in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Participants must be greater than or equal to 2 years of age. All patients and guardians (for children younger than 18 years of age) must sign an informed consent document indicating their understanding of the investigational nature and the risks of this study before any protocol related studies are performed. Patients under the age of 18 but who are age 13 or older will be asked to sign an assent document prior to participation.
• • Individuals and biologic family members with a suspected or an established diagnosis of a heritable kidney cancer syndrome in which the disease gene is known, including von Hippel-Lindau (VHL) and hereditary papillary renal carcinoma (HPRC).
• • Individuals and biologic family members with a suspected or an established diagnosis of a heritable kidney cancer syndrome in which the disease gene is not yet known, specifically hereditary forms of Type II papillary renal cancer, clear cell renal carcinoma, renal oncocytoma, chromophobe renal carcinoma or Birt Hogg Dube.
• • Individuals and biologic family members who have heritable kidney cancer syndromes of suspected, but not proven genetic etiology, including families with more than one individual affected by the same or related cancers.
• • Subject Enrollment Categories (to include both affected and unaffected biologic relatives).
• Exclusion Criteria:
• • Pregnant women are excluded from enrollment onto this study because there is no direct benefit for participating in the study.