Clinical trial · Observational
Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
This study will investigate the frequency, clinical phenotype, management and molecular genetic defects of heritable kidney cancer syndromes. Families with kidney cancer with known or suspected genetic basis will be enrolled. Affected individuals or individuals suspected of having a germline kidney cancer 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. This research will have a significant impact on the overall management of heritable kidney cancer syndromes patients and family members who are at risk for heritable kidney cancer syndromes. The study will ultimately facilitate the development of novel screening, prevention and treatment strategies for these individuals with the syndrome. In addition this study could have impact on the management of patients with personal and/or family history of heritable kidney cancer syndromes.
Conditions
Conditions (14)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| ALK Gene Mutation | — | UNRESOLVED | — |
| BAP1 Tumor Predisposition Syndrome | — | UNRESOLVED | — |
| Birt-Hogg-Dube Syndrome | — | UNRESOLVED | — |
| Cutaneous Leiomyoma | Skin Leiomyoma | ALIAS | 0.90 |
| Cutaneous Leiomyomata With Uterine Leiomyomata | — | UNRESOLVED | — |
| Familial Renal Cancer | Hereditary Renal Cell Carcinoma | ALIAS | 0.90 |
| FH Gene Mutation | — | UNRESOLVED | — |
| FLCN Gene Mutation | — | UNRESOLVED | — |
| HLRCC | Hereditary Leiomyomatosis and Renal Cell Carcinoma |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Gene test | Genetic | — | UNRESOLVED |
Design
Arms and outcomes
Arms (3)
- label
- Patient with heritable kidney cancer syndrome
- description
- Patients with known or suspected heritable kidney cancer syndromes, including VHL and HLRCC Disease.
- interventionNames
- Genetic: Gene test
- label
- Family members of heritable kidney cancer syndrome
- description
- Family members (related by blood) of patients who have or are suspected of having heritable kidney cancer syndromes, including VHL and HLRCC Disease.
- interventionNames
- Genetic: Gene test
- label
- Not proven genetic etiology
- description
- Patients and biologic family members with a heritable kidney cancer syndrome of suspected, but not proven genetic etiology.
- interventionNames
- Genetic: Gene test
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 2 Years
Show eligibility criteria text
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.
References
Publications (0)
Data not yet available