Carcinoma, Renal CellSoMuKTNCT06194669
Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells
An observational study of Carcinoma, Renal Cell and Von Hippel-Lindau Disease, run by IRCCS San Raffaele at 1 site in Italy.
Trial summary
The goal of this observational study is to analyze somatic mutations in the genome of normal kidney cells from patients affected by kidney cancer predisposition syndrome Von Hippel Lindau (VHL) and compare the mutation rates observed in these patients and in individuals not affected by the disease. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Carcinoma, Renal Cell, Von Hippel-Lindau Disease
- What is being tested?
- Blood and urine sample collection
- How many people
- 50 participants
- Where
- 1 siteItaly
- Study dates
- 30 Jun 2023to 31 Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with genetic diagnosis of VHL-disease, between 25 and 65, both genders
Who may be able to join
- Genetic diagnosis of VHL-disease; age (data need to be collected from a population distributed between 25 and 65 years); gender (males and females should be equally represented);
Who cannot join
- patients with bilateral nephrectomy, in dialysis or kidney transplant; use of nephrotoxic drugs
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
IRCCS Ospedale San Raffaele
Milan, 20132
Irene Franco, PhD, +39 0226432357, franco.irene@hsr.it
Daniela Canibus, Bsc, +39 0226435628, canibus.daniela@hsr.it
About this study
The goal of this observational study is to analyze somatic mutations in the genome of normal kidney cells from patients affected by kidney cancer predisposition syndrome Von Hippel Lindau (VHL) and compare the mutation rates observed in these patients and in individuals not affected by the disease. The main questions the study aims to answer are:
- Do kidney cells from VHL patients mutate more than cells from control individuals during adult life?
- What mechanisms favor somatic mutation occurrence in the genome of normal kidney tubule cells?
Read more
Participants will donate one blood sample and multiple urine samples. Urines will be used for kidney cell isolation, followed by cell culturing and genetic analyses. Urine samples will be collected once a year for 3-5 years. Sample collection will occur during the yearly screening program that each patient undergoes at the hospital. In case patients undergo surgical treatment of kidney tumors, samples discarded from surgery (tumor and normal kidney adjacent to tumor) will be collected and subjected to genetic analyses.
Researchers will compare the number and types of mutations found in tumors and normal kidney cells from VHL-disease patients with those found in normal kidney cells from control individuals, to see if somatic mutation rates are increased in VHL-disease patients during aging.
- Conditions
- Carcinoma, Renal Cell, Von Hippel-Lindau Disease
- Being tested
- Blood and urine sample collection
- Keywords
- Somatic mutations, Whole genome sequencing, Normal kidney
- Medical subject headings
- Carcinoma, Renal Cell, von Hippel-Lindau Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood and urine sample collectionOther
One whole blood sample per individual (3 ml) will be collected. Up to 5 urine samples per individual will be collected
| Study group | Role | What they receive |
|---|---|---|
| Controls | Healthy volunteers; patients referring to San Raffaele Hospital for renal/urological conditions other than VHL Receives: Other: Blood and urine sample collection | |
| VHL-disease patients | Individuals with genetic diagnosis of Von Hippel Lindau disease Receives: Other: Blood and urine sample collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Rate of somatic mutation accumulation in normal kidney tubule genomes
The genome of multiple normal kidney cells from each subject will be investigated by whole genome sequencing. The number of somatic mutations per genome will be plotted according to donor's age and a curve describing the accumulation of mutations with age will be obtained for both the control and VHL-disease patient populations. The aim is to assess differences in mutation rates in the kidney of VHL-disease patients vs controls and understand the underlying mechanism.
Measured: Normal kidney tubule cells from urines are assessed from control and VHL-disease patients typically over a period of 3 years (min 3 months, max 3 years)
Secondary outcomes (1)
Quantification of pre-cancer cells in urines
From each urine sample, researchers can culture up to 20 single cell clones and perform a single-clone, gene-expression analysis. The expression of markers that characterize the mutation-prone, pre-cancer population will be assessed in all clones. The fraction of clones expressing markers of pre-cancer cells will be calculated in control and VHL-disease groups. The aim is to assess any differences in the presence of pre-cancer cells in urines from VHL-disease patients vs controls and assess any correlation of this parameter with kidney cancer occurrence.
Measured: Normal kidney tubule cells from urines are assessed from control and VHL-disease patients typically over a period of 3 years (min 3 months, max 3 years)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jan 2024
- Study start30 Jun 2023
- Primary completion31 Dec 2027 (estimated)
- Study completion31 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Carcinoma, Renal CellStudies of the same condition, open and under way.
- More trials run by IRCCS San RaffaeleThe 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS San Raffaele
- Sponsor type
- University, hospital or other
- Collaborators
- Università Vita-Salute San Raffaele
- Responsible party
- Principal investigator, Irene Franco, IRCCS San Raffaele
- Investigators
- Irene Franco, PhD, Principal investigator, IRCCS Ospedale San RaffaeleAlessandro Larcher, MD, Principal investigator, IRCCS Ospedale San RaffaeleAndrea Salonia, MD, Study chair, IRCCS Ospedale San Raffaele
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06194669
- Sponsor's protocol ID
- SoMuKT
- Acronym
- SoMuKT
- Status last verified
- Jan 2024
- First submitted
- 22 Dec 2023
- Last updated
- 10 Jan 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Jan 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells
- ClinicalTrials.gov ID
- NCT06194669
- Acronym / sponsor ID
- SoMuKT / SoMuKT
- Conditions
- Carcinoma, Renal Cell, Von Hippel-Lindau Disease
- Keywords
- Somatic mutations, Whole genome sequencing, Normal kidney
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- IRCCS San RaffaeleUniversity, hospital or other
- Collaborators
- Università Vita-Salute San Raffaele
- Study start
- 30 Jun 2023 (actual)
- Primary completion
- 31 Dec 2027 (estimated)
- Study completion
- 31 Dec 2027 (estimated)
- First posted
- 8 Jan 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.
The goal of this observational study is to analyze somatic mutations in the genome of normal kidney cells from patients affected by kidney cancer predisposition syndrome Von Hippel Lindau (VHL) and compare the mutation rates observed in these patients and in individuals not affected by the disease. The main questions the study aims to answer are:
- Do kidney cells from VHL patients mutate more than cells from control individuals during adult life?
- What mechanisms favor somatic mutation occurrence in the genome of normal kidney tubule cells?
Participants will donate one blood sample and multiple urine samples. Urines will be used for kidney cell isolation, followed by cell culturing and genetic analyses. Urine samples will be collected once a year for 3-5 years. Sample collection will occur during the yearly screening program that each patient undergoes at the hospital. In case patients undergo surgical treatment of kidney tumors, samples discarded from surgery (tumor and normal kidney adjacent to tumor) will be collected and subjected to genetic analyses.
Researchers will compare the number and types of mutations found in tumors and normal kidney cells from VHL-disease patients with those found in normal kidney cells from control individuals, to see if somatic mutation rates are increased in VHL-disease patients during aging.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Controls | – | Other: Blood and urine sample collectionHealthy volunteers; patients referring to San Raffaele Hospital for renal/urological conditions other than VHL |
| VHL-disease patients | – | Other: Blood and urine sample collectionIndividuals with genetic diagnosis of Von Hippel Lindau disease |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with genetic diagnosis of VHL-disease, between 25 and 65, both genders
Key inclusion criteria (1 listed)
- Genetic diagnosis of VHL-disease; age (data need to be collected from a population distributed between 25 and 65 years); gender (males and females should be equally represented);
Key exclusion criteria (1 listed)
- patients with bilateral nephrectomy, in dialysis or kidney transplant; use of nephrotoxic drugs
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 |
|---|---|---|
| Blood and urine sample collectionOne whole blood sample per individual (3 ml) will be collected. Up to 5 urine samples per individual will be collected | Other | Controls, VHL-disease patients |
Primary outcome
Rate of somatic mutation accumulation in normal kidney tubule genomes
Time frame: Normal kidney tubule cells from urines are assessed from control and VHL-disease patients typically over a period of 3 years (min 3 months, max 3 years)
The genome of multiple normal kidney cells from each subject will be investigated by whole genome sequencing. The number of somatic mutations per genome will be plotted according to donor's age and a curve describing the accumulation of mutations with age will be obtained for both the control and VHL-disease patient populations. The aim is to assess differences in mutation rates in the kidney of VHL-disease patients vs controls and understand the underlying mechanism.
1 secondary outcome
Quantification of pre-cancer cells in urines
Time frame: Normal kidney tubule cells from urines are assessed from control and VHL-disease patients typically over a period of 3 years (min 3 months, max 3 years)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Jan 2024.
Related trials for Carcinoma, Renal Cell
RecruitingPhase 1/2
Study of INBRX-106 and INBRX-106 in Combination With Pembrolizumab (Keytruda®) in Subjects With Locally Advanced or Metastatic Solid Tumors (Hexavalent OX40 Agonist)
Solid Tumor, Non-Small Cell Lung Cancer
Active, not recruitingPhase 3
A Study of Belzutifan (MK-6482) in Combination With Lenvatinib Versus Cabozantinib for Treatment of Renal Cell Carcinoma (MK-6482-011)
Carcinoma, Renal Cell
RecruitingPhase 2/3
Testing the Role of DNA Released From Tumor Cells Into the Blood in Guiding the Use of Immunotherapy After Surgical Removal of the Bladder, Kidney, Ureter, and Urethra for Urothelial Cancer Treatment, MODERN Study
Muscle Invasive Bladder Urothelial Carcinoma, Muscle Invasive Renal Pelvis Urothelial Carcinoma
Not yet recruitingPhase 2
Toripalimab and Lenvatinib With or Without SBRT Before Surgery for Non-Clear Cell Kidney Cancer
Nonmetastatic Locally Advanced Non-Clear Cell Renal Cell Carcinoma
Not yet recruitingPhase 2
Pucotenlimab, Lenvatinib, and SBRT Before Surgery for Localized Clear Cell Renal Cell Carcinoma
Localized Clear Cell Renal Cell Carcinoma
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.
Irene Franco, PhD principal investigator
IRCCS Ospedale San Raffaele
Alessandro Larcher, MD principal investigator
IRCCS Ospedale San Raffaele
Andrea Salonia, MD study chair
IRCCS Ospedale San Raffaele
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 Carcinoma, Renal Cell and Von Hippel-Lindau Disease, run by IRCCS San Raffaele at 1 site in Italy.
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 1 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: looking for participants now, as of the sponsor's last update on 10 Jan 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 Italy. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Irene Franco, PhD (+39 02 2643 2357, franco.irene@hsr.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Rate of somatic mutation accumulation in normal kidney tubule genomes (time frame: Normal kidney tubule cells from urines are assessed from control and VHL-disease patients typically over a period of 3 years (min 3 months, max 3 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 10 Jan 2024.