Medulary Sponge KidneyEXOCARINCT06418230
EXOME SEQUENCING IN MEDULLARY SPONGE KIDNEY
An observational study of Medulary Sponge Kidney, run by Hospices Civils de Lyon at 2 sites in France.
Trial summary
Medullary sponge kidney is a rare, underdiagnosed renal pathology, characterized by precalyceal dilatation of the renal tubes associated with active and recurrent stone disease with nephrocalcinosis, hypercalciuria and tubular dysfunction with, for example, acidification and urinary concentration defects. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Medulary Sponge Kidney
- How many people
- 80 participants
- Where
- 2 sitesFrance
- Study dates
- 2 Jan 2024to 31 Mar 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 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: The patients will be selected from the hospital Edouard Herriot nephrology and urology departments and frome from the hospital de la Conception nephrology and urology departments Around 80 Medullary sponge kidney patients are followed at these nephrology and urology departments
Who may be able to join
- medullary sponge kidney attending medical consultation
- consent signed
- affiliated to social insurance scheme
Who cannot join
- legal protection measure (guardianship, curatorship)
- Deprived of liberty by a judicial or administrative decision
- subject participating in another research including an exclusion period still in progress at inclusion
Trial locations and contacts
2 sites in 1 country.
France2 sites
Hôpital Edouard Herriot
Lyon, 69003
Hôpital de la Conception
Marseille, 13005
About this study
Medullary sponge kidney is a rare, underdiagnosed renal pathology, characterized by precalyceal dilatation of the renal tubes associated with active and recurrent stone disease with nephrocalcinosis, hypercalciuria and tubular dysfunction with, for example, acidification and urinary concentration defects.
The pathophysiology is poorly understood The prevalence and etiopathogenesis of the disease is not known Medullary sponge kidney is often characterized as a congenital pathology with delayed expression due to reported cases occurring in early childhood and associations with other congenital renal and extra-renal malformative pathologies, such as Wilms tumors, horseshoe kidney, contralateral renal hypoplasia, Beckwith-Wiedemann syndrome, Caroli disease, or congenital hepatic fibrosis, for example. However, no clear demonstration of the congenital nature has been established so far, and it is considered a sporadic disease.
Read more
However familial cases have been reported with an autosomal dominant mode.
The pathophysiology may involve disruptions in renal organogenesis, which depends on reciprocal inductive interactions necessary to coordinate nephrogenesis between the ureteric bud and the metanephric blastema during the 5th week of embryonic development. Some authors suggested that the GDNF and RET genes may be involved in the physiopathology of the disease.
For instance 12% of heterozygous patients for rare GDNF variants were identified in an Italian cohort of 57 medullary sponge kidney patients.
Other genes have been suggested to be involved in the pathophysiology based on reported cases, with no direct relationship demonstrated and their role remain putative Medullary sponge kidney disease is a debilitating condition, with the main symptoms being recurrent kidney stones and urinary infections.
Additional data are needed to determine the involvement of genetic anomalies in the pathophysiology of the condition.
The aim of the study is to describe the genetic variants identified with exome sequencing in medullary sponge kidney patients, in order to optimize management, especially for familial forms, and therapeutic interventions.
- Conditions
- Medulary Sponge Kidney
- Keywords
- exome, nephrolithiasis, medullary sponge kidney
- Medical subject headings
- Nephrolithiasis, Medullary Sponge Kidney
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| MEDULLARY SPONGE KIDNEY | medullary sponge kidney attending medical consultation |
What is being measured
The primary outcome is the main question the study is designed to answer.
Class 3, 4 and 5 variants detected at exome-sequencing
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 May 2024
- Study start2 Jan 2024
- Primary completion31 Dec 2024 (estimated)
- Study completion31 Mar 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Medulary Sponge KidneyStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe 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
- Retrospective
- Enrolment
- 80 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06418230
- Sponsor's protocol ID
- 69HCL23-5392
- Acronym
- EXOCARI
- Status last verified
- May 2024
- First submitted
- 13 May 2024
- Last updated
- 17 May 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 May 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- EXOME SEQUENCING IN MEDULLARY SPONGE KIDNEY
- ClinicalTrials.gov ID
- NCT06418230
- Acronym / sponsor ID
- EXOCARI / 69HCL23-5392
- Conditions
- Medulary Sponge Kidney
- Keywords
- exome, nephrolithiasis, medullary sponge kidney
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 80 participants (actual)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 2 Jan 2024 (actual)
- Primary completion
- 31 Dec 2024 (estimated)
- Study completion
- 31 Mar 2025 (estimated)
- First posted
- 17 May 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.
Medullary sponge kidney is a rare, underdiagnosed renal pathology, characterized by precalyceal dilatation of the renal tubes associated with active and recurrent stone disease with nephrocalcinosis, hypercalciuria and tubular dysfunction with, for example, acidification and urinary concentration defects.
The pathophysiology is poorly understood The prevalence and etiopathogenesis of the disease is not known Medullary sponge kidney is often characterized as a congenital pathology with delayed expression due to reported cases occurring in early childhood and associations with other congenital renal and extra-renal malformative pathologies, such as Wilms tumors, horseshoe kidney, contralateral renal hypoplasia, Beckwith-Wiedemann syndrome, Caroli disease, or congenital hepatic fibrosis, for example. However, no clear demonstration of the congenital nature has been established so far, and it is considered a sporadic disease.
However familial cases have been reported with an autosomal dominant mode.
The pathophysiology may involve disruptions in renal organogenesis, which depends on reciprocal inductive interactions necessary to coordinate nephrogenesis between the ureteric bud and the metanephric blastema during the 5th week of embryonic development. Some authors suggested that the GDNF and RET genes may be involved in the physiopathology of the disease.
For instance 12% of heterozygous patients for rare GDNF variants were identified in an Italian cohort of 57 medullary sponge kidney patients.
Other genes have been suggested to be involved in the pathophysiology based on reported cases, with no direct relationship demonstrated and their role remain putative Medullary sponge kidney disease is a debilitating condition, with the main symptoms being recurrent kidney stones and urinary infections.
Additional data are needed to determine the involvement of genetic anomalies in the pathophysiology of the condition.
The aim of the study is to describe the genetic variants identified with exome sequencing in medullary sponge kidney patients, in order to optimize management, especially for familial forms, and therapeutic interventions.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| MEDULLARY SPONGE KIDNEY | – | –medullary sponge kidney attending medical consultation |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- The patients will be selected from the hospital Edouard Herriot nephrology and urology departments and frome from the hospital de la Conception nephrology and urology departments Around 80 Medullary sponge kidney patients are followed at these nephrology and urology departments
Key inclusion criteria (3 listed)
- medullary sponge kidney attending medical consultation
- consent signed
- affiliated to social insurance scheme
Key exclusion criteria (3 listed)
- legal protection measure (guardianship, curatorship)
- Deprived of liberty by a judicial or administrative decision
- subject participating in another research including an exclusion period still in progress at inclusion
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Class 3, 4 and 5 variants detected at exome-sequencing
Time frame: Baseline
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 May 2024.
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.
The record lists no contact. Use the official record to reach the sponsor.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Medulary Sponge Kidney, run by Hospices Civils de Lyon at 2 sites in France.
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 3 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 17 May 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Class 3, 4 and 5 variants detected at exome-sequencing (time frame: Baseline). 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 17 May 2024.