Investigating genetic factors in heritable kidney cancer syndromes
Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes
This study is trying to learn more about the genetic causes of kidney cancer that runs in families to help improve care for those affected.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Ages | 2 Years and up |
| Sex | All |
| Sponsor | RenJi Hospital Academic / other |
| Locations | 1 site (Shanghai, Shanghai) |
| Trial ID | NCT05534854 on ClinicalTrials.gov |
What this trial studies
This observational study aims to explore the frequency, clinical characteristics, and genetic underpinnings of heritable kidney cancer syndromes. Families with known or suspected genetic links to kidney cancer will be enrolled, and affected individuals will undergo clinical assessments and genetic analyses. The study seeks to define the natural history of these syndromes, establish genotype/phenotype correlations, and improve management strategies for patients and their families. Genetic testing will be utilized to understand the impact of mutations on disease manifestations.
Who should consider this trial
Good fit: Ideal candidates include individuals and their family members with a suspected or established diagnosis of heritable kidney cancer syndromes.
Not a fit: Patients without a genetic basis for their kidney cancer or those not related to affected individuals may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved screening, prevention, and treatment strategies for individuals with heritable kidney cancer syndromes.
How similar studies have performed: Other studies have shown success in understanding genetic factors in cancer syndromes, making this approach promising but still requiring further exploration.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Shanghai, Shanghai
- Ethics Committee of Shanghai Renji Hospital — Shanghai, Shanghai, China (Recruiting)
Study contacts
- Study coordinator: Yunze Xu, Ph.D.
- Email: rjxuyunze@163.com
- Phone: +8618801967501
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.