VHL SyndromeNCT06391879
Establishment of a Multidimensional Prediction Model for the Natural Course of VHL Disease-related Renal Cell Carcinoma
An observational study of VHL Syndrome and Renal Cell Carcinoma, run by Peking University First Hospital at 1 site in China.
Trial summary
VHL syndrome is a rare hereditary tumor syndrome caused by mutation of tumor suppressor gene VHL. One of the most important clinical manifestations and main cause of death is VHL-related renal cell carcinoma (RCC). Read more about this study
- Who is it for?
- Ages 18 to 80 years
- Conditions the study is for
- VHL Syndrome, Renal Cell Carcinoma
- What is being tested?
- Single cell sequencing, whole genome and metabolomic sequencing
- How many people
- 300 participants
- Where
- 1 siteChina
- Study dates
- 8 Sep 2023to 31 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 18 to 80 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Based on the previous establishment of the largest biobank of VHL syndrome in Asia, as well as the unique characteristics and genotype-phenotypic relationship of patients in Chinese population, this cohort-study aims to retrospectively and prospectively incorporated patients with VHL-related RCC.
Who may be able to join
- Diagnosis of VHL syndrome based on clinical diagnostic criteria or genetic test results of syndrome
- Upon enrollment, multiple organ assessments for VHL syndrome should be completed, including fundus examination, CT/MR examination of the brain, spinal cord, and abdominal and pelvic organs.
- If subjects have undergone surgery for renal tumors, the follow-up observation time in each branch center before surgery should be more than 12 months, and imaging examinations should be performed at least once every 6 months.
Who cannot join
- Do not meet the clinical diagnostic criteria for VHL disease or the genetic test is negative
- Other hereditary RCC syndromes
Trial locations and contacts
1 site in 1 country.
China1 site, 1 recruiting
- Recruiting
Peking University First Hospital
Beijing, Beijing Municipality, 100034
Yanyan Yu, +86 1066119025, bdyyll@126.com
About this study
Official title: Establishment of a Multidimensional Prediction Model for the Natural Course of VHL Disease-related Renal Cell Carcinoma Based on Accurate Genotyping: a Population-based Study
VHL syndrome is a rare hereditary tumor syndrome caused by mutation of tumor suppressor gene VHL. One of the most important clinical manifestations and main cause of death is VHL-related renal cell carcinoma (RCC). Facing the challenges of multilesion of both kidneys, slow progress and life-long repeated surgeries in VHL-related RCC, individualized prediction of the best surgical treatment time and reduction of times of surgeries are very important to improve the prognosis of patients with VHL syndrome. Therefore, there is an urgent need to establish a more effective and accurate prediction model for the natural course of VHL syndrome. This cohort-study aims to retrospectively and prospectively analyze the factors related to the natural course of VHL-related RCC. At the same time, some patients were selected for prospectively continuous molecular evolution dynamic monitoring after comprehensively considering the results of single cell sequencing, whole genome and metabonomic sequencing. This study will provide scientific basis for accurate diagnosis and treatment of natural course of VHL-related RCC.
Read the detailed description
VHL syndrome is a rare hereditary tumor syndrome caused by mutation of tumor suppressor gene VHL. One of the most important clinical manifestations and main cause of death is VHL-related renal cell carcinoma (RCC). Previous small sample studies have confirmed that the natural course of VHL-related RCC is different from that of sporadic RCC. Facing the challenges of multilesion of both kidneys, slow progress and life-long repeated surgeries in VHL-related RCC, individualized prediction of the best surgical treatment time and reduction of times of surgeries are very important to improve the prognosis of patients with VHL-related RCC. Therefore, there is an urgent need to establish a more effective and accurate prediction model for the natural course of VHL syndrome. Based on the previous establishment of the largest biobank of VHL syndrome in Asia, as well as the unique characteristics and genotype-phenotypic relationship of patients in Chinese population, this cohort-study aims to retrospectively and prospectively analyze the factors related to the natural course of VHL-related RCC. At the same time, some patients were selected for prospectively continuous molecular evolution dynamic monitoring after comprehensively considering the results of single cell sequencing, whole genome and metabonomic sequencing. This study will systematically analyze the specific molecular characteristic and evolution of VHL-related different from sporadic RCC, reveal new specific driving genes and their molecular regulatory mechanisms, and establish a multi-dimensional prediction model of natural course of VHL-related RCC based on accurate genotyping. It will provide scientific basis for accurate diagnosis and treatment of natural course of VHL-related RCC.
- Conditions
- VHL Syndrome, Renal Cell Carcinoma
- Being tested
- Single cell sequencing, whole genome and metabolomic sequencing
- Keywords
- VHL, VHL syndrome, Renal cell carcinoma
- Medical subject headings
- von Hippel-Lindau Disease, Carcinoma, Renal Cell
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Single cell sequencing, whole genome and metabolomic sequencingGenetic
The blood specimen of subjects in this cohort would be collected to conduct single cell sequencing, whole genome and metabolomic sequencing.
| Study group | Role | What they receive |
|---|---|---|
| VHL-related RCC cohort | This cohort incorporates subjects with VHL-related renal cell carcinoma. Receives: Genetic: Single cell sequencing, whole genome and metabolomic sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Tumor growth rate
The tumor size was measured annually and the tumor growth rate was calculated.
Measured: From date of diagnosis of the VHL-related RCC until the date of surgical treatment, death from any cause or the date of last follow-up, whichever came first, assessed up to 60 years.
Secondary outcomes (2)
Overall survival (OS)
OS was calculated as the time interval from the diagnosis of the VHL-related RCC to death or the time to the last follow-up.
Measured: From date of diagnosis of the VHL-related RCC until the date of death from any cause or the date of last follow-up, whichever came first, assessed up to 20 years.
Cancer-specific survival (CSS)
CSS was calculated as the time interval from the diagnosis of the VHL-related RCC to death from the same disease or the last follow-up.
Measured: From date of diagnosis of the VHL-related RCC until the date of death from the same disease or the date of last follow-up, whichever came first, assessed up to 20 years.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Apr 2024
- Study start8 Sep 2023
- Primary completion30 Jun 2025 (estimated)
- Study completion31 Aug 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for VHL SyndromeStudies of the same condition, open and under way.
- More trials run by Peking University First 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
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Peking University First Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, GONG Kan, Peking University First Hospital
- Investigators
- Kan Gong, Principal investigator, Peking University First Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06391879
- Sponsor's protocol ID
- 2023#395-002
- Status last verified
- Apr 2024
- First submitted
- 25 Apr 2024
- Last updated
- 30 Apr 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Establishment of a Multidimensional Prediction Model for the Natural Course of VHL Disease-related Renal Cell Carcinoma Based on Accurate Genotyping: a Population-based Study
- ClinicalTrials.gov ID
- NCT06391879
- Acronym / sponsor ID
- 2023#395-002
- Conditions
- VHL Syndrome, Renal Cell Carcinoma
- Keywords
- VHL, VHL syndrome, Renal cell carcinoma
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Peking University First HospitalUniversity, hospital or other
- Study start
- 8 Sep 2023 (actual)
- Primary completion
- 30 Jun 2025 (estimated)
- Study completion
- 31 Aug 2025 (estimated)
- First posted
- 30 Apr 2024 (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.
VHL syndrome is a rare hereditary tumor syndrome caused by mutation of tumor suppressor gene VHL. One of the most important clinical manifestations and main cause of death is VHL-related renal cell carcinoma (RCC). Facing the challenges of multilesion of both kidneys, slow progress and life-long repeated surgeries in VHL-related RCC, individualized prediction of the best surgical treatment time and reduction of times of surgeries are very important to improve the prognosis of patients with VHL syndrome. Therefore, there is an urgent need to establish a more effective and accurate prediction model for the natural course of VHL syndrome. This cohort-study aims to retrospectively and prospectively analyze the factors related to the natural course of VHL-related RCC. At the same time, some patients were selected for prospectively continuous molecular evolution dynamic monitoring after comprehensively considering the results of single cell sequencing, whole genome and metabonomic sequencing. This study will provide scientific basis for accurate diagnosis and treatment of natural course of VHL-related RCC.
Detailed description
VHL syndrome is a rare hereditary tumor syndrome caused by mutation of tumor suppressor gene VHL. One of the most important clinical manifestations and main cause of death is VHL-related renal cell carcinoma (RCC). Previous small sample studies have confirmed that the natural course of VHL-related RCC is different from that of sporadic RCC. Facing the challenges of multilesion of both kidneys, slow progress and life-long repeated surgeries in VHL-related RCC, individualized prediction of the best surgical treatment time and reduction of times of surgeries are very important to improve the prognosis of patients with VHL-related RCC. Therefore, there is an urgent need to establish a more effective and accurate prediction model for the natural course of VHL syndrome. Based on the previous establishment of the largest biobank of VHL syndrome in Asia, as well as the unique characteristics and genotype-phenotypic relationship of patients in Chinese population, this cohort-study aims to retrospectively and prospectively analyze the factors related to the natural course of VHL-related RCC. At the same time, some patients were selected for prospectively continuous molecular evolution dynamic monitoring after comprehensively considering the results of single cell sequencing, whole genome and metabonomic sequencing. This study will systematically analyze the specific molecular characteristic and evolution of VHL-related different from sporadic RCC, reveal new specific driving genes and their molecular regulatory mechanisms, and establish a multi-dimensional prediction model of natural course of VHL-related RCC based on accurate genotyping. It will provide scientific basis for accurate diagnosis and treatment of natural course of VHL-related RCC.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| VHL-related RCC cohort | – | Genetic: Single cell sequencing, whole genome and metabolomic sequencingThis cohort incorporates subjects with VHL-related renal cell carcinoma. |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Based on the previous establishment of the largest biobank of VHL syndrome in Asia, as well as the unique characteristics and genotype-phenotypic relationship of patients in Chinese population, this cohort-study aims to retrospectively and prospectively incorporated patients with VHL-related RCC.
Key inclusion criteria (3 listed)
- Diagnosis of VHL syndrome based on clinical diagnostic criteria or genetic test results of syndrome
- Upon enrollment, multiple organ assessments for VHL syndrome should be completed, including fundus examination, CT/MR examination of the brain, spinal cord, and abdominal and pelvic organs.
- If subjects have undergone surgery for renal tumors, the follow-up observation time in each branch center before surgery should be more than 12 months, and imaging examinations should be performed at least once every 6 months.
Key exclusion criteria (2 listed)
- Do not meet the clinical diagnostic criteria for VHL disease or the genetic test is negative
- Other hereditary RCC syndromes
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 |
|---|---|---|
| Single cell sequencing, whole genome and metabolomic sequencingThe blood specimen of subjects in this cohort would be collected to conduct single cell sequencing, whole genome and metabolomic sequencing. | Genetic | VHL-related RCC cohort |
Primary outcome
Tumor growth rate
Time frame: From date of diagnosis of the VHL-related RCC until the date of surgical treatment, death from any cause or the date of last follow-up, whichever came first, assessed up to 60 years.
The tumor size was measured annually and the tumor growth rate was calculated.
2 secondary outcomes
Overall survival (OS)
Time frame: From date of diagnosis of the VHL-related RCC until the date of death from any cause or the date of last follow-up, whichever came first, assessed up to 20 years.
Cancer-specific survival (CSS)
Time frame: From date of diagnosis of the VHL-related RCC until the date of death from the same disease or the date of last follow-up, whichever came first, assessed up to 20 years.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Apr 2024.
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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.
Kan Gong principal investigator
Peking University First 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 VHL Syndrome and Renal Cell Carcinoma, run by Peking University First 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 3 inclusion and 2 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 30 Apr 2024. 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 Kan Gong ((86)-010-83572075, kan.gong@bjmu.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Tumor growth rate (time frame: From date of diagnosis of the VHL-related RCC until the date of surgical treatment, death from any cause or the date of last follow-up, whichever came first, assessed up to 60 years.). 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 30 Apr 2024.