Renal Tumor HistologyNCT05534854
Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes
An observational study of Renal Tumor Histology and Kidney Cancer, run by RenJi Hospital at 1 site in China.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 2 years and olderHealthy volunteers can take part
- Conditions the study is for
- Renal Tumor Histology, Kidney Cancer, Renal Cell Carcinoma
- What is being tested?
- Gene test
- How many people
- 500 participants
- Where
- 1 siteChina
- Study dates
- 1 Oct 2022to 1 Aug 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients with known or suspected heritable kidney cancer syndromes and their biologic family members with heritable kidney cancer syndromes will be recruited primarily from the urology, oncology, and genetics communities worldwide.
Who may be able to join
- 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).
Who cannot join
- Pregnant women are excluded from enrollment onto this study because there is no direct benefit for participating in the study.
Trial locations and contacts
1 site in 1 country.
China1 site, 1 recruiting
- Recruiting
Ethics Committee of Shanghai Renji Hospital
Shanghai, Shanghai Municipality
Qi Lu, +86021-68383364, rjllb3364@163.com
About this study
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.
Read the detailed description
Background:
- The genetic etiology of heritable kidney cancer syndromes remains to be determined.
Objectives:
- Define the risk of developing renal cance in heritable kidney cancer syndromes
- Define the types and characteristics (including patterns of growth) of heritable kidney cancer syndromes.
- Determine genotype/phenotype correlations.
- To characterize the natural and clinical histories of heritable kidney cancer syndromes.
- To determine the genetic etiology of heritable kidney cancer syndromes.
Design:
- These rare families will be recruited to genetically confirm diagnosis, determine size and location of renal tumors, size at presentation, growth rate and metastatic potential of renal tumors.
- Genetic testing will be offered to gain appreciation of the effect of mutations on the relative activity of various germline and somatic mutations.
- To determine if there is a relationship between mutation and disease manifestations and phenotype.
- Conditions
- Renal Tumor Histology, Kidney Cancer, Renal Cell Carcinoma, Familial Renal Cancer, HLRCC, VHL Syndrome
- Being tested
- Gene test
- Medical subject headings
- Kidney Neoplasms, Carcinoma, Renal Cell, von Hippel-Lindau Disease, Birt-Hogg-Dube Syndrome, Hereditary leiomyomatosis and renal cell cancer
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Gene testGenetic
Next generation sequencing of blood, urine and/or benign and malignant tissue of patients and family members with known or suspected heritable kidney cancer syndromes, including VHL and HLRCC Disease.
| Study group | Role | What they receive |
|---|---|---|
| Patient with heritable kidney cancer syndrome | Patients with known or suspected heritable kidney cancer syndromes, including VHL and HLRCC Disease. Receives: Genetic: Gene test | |
| Family members of heritable kidney cancer syndrome | Family members (related by blood) of patients who have or are suspected of having heritable kidney cancer syndromes, including VHL and HLRCC Disease. Receives: Genetic: Gene test | |
| Not proven genetic etiology | Patients and biologic family members with a heritable kidney cancer syndrome of suspected, but not proven genetic etiology. Receives: Genetic: Gene test |
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical phenotypes of patients of heritable kidney cancer syndromes
Chart review of disease outcome
Measured: 5 years
Genotypes of patients of heritable kidney cancer syndromes
Genotyping for genetic variants that could modify the risk of cancer in subjects.
Measured: 5 years
Secondary outcomes (2)
Clinical phenotypes of family members of the patients
Questionnaire and chart review of the clinical phenotype
Measured: 5 years
Prevalence of germline variants in the unselected general population of renal cancer patients
Frequency of germline pathogenic/likely pathogenic variants in renal cancer
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Sep 2022
- Study start1 Oct 2022
- Primary completion1 Aug 2025 (estimated)
- Study completion1 Aug 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Renal Tumor HistologyStudies of the same condition, open and under way.
- More trials run by RenJi HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- RenJi Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Ruijin Hospital, Shanghai Zhongshan Hospital, Huashan Hospital, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Zhejiang Provincial People's Hospital, Tongji Hospital, Second Affiliated Hospital, Zhejiang University, School of Medicine, Shanghai 10th People's Hospital, First Affiliated Hospital, Sun Yat-Sen University, Peking University First Hospital
- Responsible party
- Sponsor
- Investigators
- Jin Zhang, Study chair, RenJi Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05534854
- Sponsor's protocol ID
- RENJI-IKCS
- Status last verified
- Aug 2023
- First submitted
- 4 Jul 2022
- Last updated
- 31 Aug 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 31 Aug 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes
- ClinicalTrials.gov ID
- NCT05534854
- Acronym / sponsor ID
- RENJI-IKCS
- Conditions
- Renal Tumor Histology, Kidney Cancer, Renal Cell Carcinoma, Familial Renal Cancer, HLRCC, VHL Syndrome
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- RenJi HospitalUniversity, hospital or other
- Collaborators
- Ruijin Hospital, Shanghai Zhongshan Hospital, Huashan Hospital, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Zhejiang Provincial People's Hospital, Tongji Hospital, Second Affiliated Hospital, Zhejiang University, School of Medicine, Shanghai 10th People's Hospital, First Affiliated Hospital, Sun Yat-Sen University, Peking University First Hospital
- Study start
- 1 Oct 2022 (actual)
- Primary completion
- 1 Aug 2025 (estimated)
- Study completion
- 1 Aug 2025 (estimated)
- First posted
- 10 Sep 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Background:
- The genetic etiology of heritable kidney cancer syndromes remains to be determined.
Objectives:
- Define the risk of developing renal cance in heritable kidney cancer syndromes
- Define the types and characteristics (including patterns of growth) of heritable kidney cancer syndromes.
- Determine genotype/phenotype correlations.
- To characterize the natural and clinical histories of heritable kidney cancer syndromes.
- To determine the genetic etiology of heritable kidney cancer syndromes.
Design:
- These rare families will be recruited to genetically confirm diagnosis, determine size and location of renal tumors, size at presentation, growth rate and metastatic potential of renal tumors.
- Genetic testing will be offered to gain appreciation of the effect of mutations on the relative activity of various germline and somatic mutations.
- To determine if there is a relationship between mutation and disease manifestations and phenotype.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Patient with heritable kidney cancer syndrome | – | Genetic: Gene testPatients with known or suspected heritable kidney cancer syndromes, including VHL and HLRCC Disease. |
| Family members of heritable kidney cancer syndrome | – | Genetic: Gene testFamily members (related by blood) of patients who have or are suspected of having heritable kidney cancer syndromes, including VHL and HLRCC Disease. |
| Not proven genetic etiology | – | Genetic: Gene testPatients and biologic family members with a heritable kidney cancer syndrome of suspected, but not proven genetic etiology. |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with known or suspected heritable kidney cancer syndromes and their biologic family members with heritable kidney cancer syndromes will be recruited primarily from the urology, oncology, and genetics communities worldwide.
Key inclusion criteria (5 listed)
- 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).
Key exclusion criteria (1 listed)
- Pregnant women are excluded from enrollment onto this study because there is no direct benefit for participating in the study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Gene testNext generation sequencing of blood, urine and/or benign and malignant tissue of patients and family members with known or suspected heritable kidney cancer syndromes, including VHL and HLRCC Disease. | Genetic | Family members of heritable kidney cancer syndrome, Not proven genetic etiology, Patient with heritable kidney cancer syndrome |
Primary outcome
Clinical phenotypes of patients of heritable kidney cancer syndromes
Time frame: 5 years
Chart review of disease outcome
Genotypes of patients of heritable kidney cancer syndromes
Time frame: 5 years
Genotyping for genetic variants that could modify the risk of cancer in subjects.
2 secondary outcomes
Clinical phenotypes of family members of the patients
Time frame: 5 years
Prevalence of germline variants in the unselected general population of renal cancer patients
Time frame: 5 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Aug 2023.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Jin Zhang study chair
RenJi Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Renal Tumor Histology and Kidney Cancer, run by RenJi Hospital at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 31 Aug 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Yunze Xu, Ph.D. (+8618801967501, rjxuyunze@163.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Clinical phenotypes of patients of heritable kidney cancer syndromes (time frame: 5 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Aug 2023.