Ignite Creation Date:
2024-10-26 @ 3:43 PM
Last Modification Date:
2024-10-26 @ 3:43 PM
Study NCT ID:
NCT06648044
Status:
RECRUITING
Last Update Posted:
None
First Post:
2024-01-23
Brief Title:
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies - NPH_1
Status:
RECRUITING
Status Verified Date:
2024-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
NPH1
Brief Summary:
Nephronophthisis NPH is an autosomal recessive genetically heterogeneous disease with mutations identified in over 20 genes notably NPHP1 and NPHP4
These genetic defects are associated with reduced urine concentration chronic tubulointerstitial nephritis etc and progress to end-stage renal failure before the age of 20
Nephronophthisis may occur as an isolated pathology but is also often associated with various extrarenal symptoms
NPHP genes account for around 50 of the genes responsible for NPH No effective treatment is available to date
Studying NPHP proteins and associated signaling pathways could help identify how to circumvent the problems of protein distribution and therapeutic mRNA and could be applicable to a broad set of NPHP mutations To this end Dr Sauniers laboratory at Institut Imagine has recently identified approved drugs that correct some of the ciliary and epithelial defects found in cells with NPHP mutations
These genetic defects are associated with reduced urine concentration chronic tubulointerstitial nephritis etc and progress to end-stage renal failure before the age of 20
Nephronophthisis may occur as an isolated pathology but is also often associated with various extrarenal symptoms
NPHP genes account for around 50 of the genes responsible for NPH No effective treatment is available to date
Studying NPHP proteins and associated signaling pathways could help identify how to circumvent the problems of protein distribution and therapeutic mRNA and could be applicable to a broad set of NPHP mutations To this end Dr Sauniers laboratory at Institut Imagine has recently identified approved drugs that correct some of the ciliary and epithelial defects found in cells with NPHP mutations
Detailed Description:
Nephronophthisis NPH is an autosomal recessive genetically heterogeneous disease with mutations identified in over 20 genes notably NPHP1 and NPHP4
These genetic defects are associated with reduced urine concentration chronic tubulointerstitial nephritis etc and progress to end-stage renal failure before the age of 20
Nephronophthisis may occur as an isolated pathology but is also often associated with various extrarenal symptoms such as retinal dystrophy cerebellar vermis hypoplasia skeletal dysmorphisms andor situsinversus These disorders overlap phenotypically genetically and functionally All are thought to result from defective ciliary signaling and are classified as renal ciliopathies
NPHP genes account for around 50 of the genes responsible for NPH No effective treatment is available to date
One possible therapeutic approach is to replace the defective protein but delivery of recombinant proteins or mRNA to renal tubular cells is not currently feasible However each NPHP protein participates in numerous intracellular signalling pathways involving cilia functions
Studying NPHP proteins and associated signaling pathways could help identify how to circumvent the problems of protein distribution and therapeutic mRNA and could be applicable to a broad set of NPHP mutations To this end Dr Sauniers laboratory at Institut Imagine has recently identified approved drugs that correct some of the ciliary and epithelial defects found in cells with NPHP mutations
The global research project of which this protocol is a part seeks to identify new specific targets and develop new therapeutic agents against these targets for the treatment of NPH and other ciliopathies
These genetic defects are associated with reduced urine concentration chronic tubulointerstitial nephritis etc and progress to end-stage renal failure before the age of 20
Nephronophthisis may occur as an isolated pathology but is also often associated with various extrarenal symptoms such as retinal dystrophy cerebellar vermis hypoplasia skeletal dysmorphisms andor situsinversus These disorders overlap phenotypically genetically and functionally All are thought to result from defective ciliary signaling and are classified as renal ciliopathies
NPHP genes account for around 50 of the genes responsible for NPH No effective treatment is available to date
One possible therapeutic approach is to replace the defective protein but delivery of recombinant proteins or mRNA to renal tubular cells is not currently feasible However each NPHP protein participates in numerous intracellular signalling pathways involving cilia functions
Studying NPHP proteins and associated signaling pathways could help identify how to circumvent the problems of protein distribution and therapeutic mRNA and could be applicable to a broad set of NPHP mutations To this end Dr Sauniers laboratory at Institut Imagine has recently identified approved drugs that correct some of the ciliary and epithelial defects found in cells with NPHP mutations
The global research project of which this protocol is a part seeks to identify new specific targets and develop new therapeutic agents against these targets for the treatment of NPH and other ciliopathies
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None