Ignite Creation Date:
2024-05-19 @ 5:33 PM
Last Modification Date:
2024-10-26 @ 3:29 PM
Study NCT ID:
NCT06418230
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2024-05-17
First Post:
2024-05-13
Brief Title:
EXOME SEQUENCING IN MEDULLARY SPONGE KIDNEY
Sponsor:
Hospices Civils de Lyon
Organization:
Hospices Civils de Lyon
Study Overview
Official Title:
EXOME SEQUENCING IN MEDULLARY SPONGE KIDNEY
Status:
ACTIVE_NOT_RECRUITING
Status Verified Date:
2024-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
EXOCARI
Brief 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
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
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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None