Ignite Creation Date:
2024-05-19 @ 5:33 PM
Last Modification Date:
2024-10-26 @ 3:29 PM
Study NCT ID:
NCT06416761
Status:
RECRUITING
Last Update Posted:
2024-05-16
First Post:
2024-05-11
Brief Title:
Genetics in the Progression of Nephropathies
Sponsor:
Ospedale San Raffaele
Organization:
Ospedale San Raffaele
Study Overview
Official Title:
The Genetic Contribution to Progression of Kidney Disease
Status:
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:
None
Brief Summary:
This study evaluates the role of genetic in the development and progression of different nephropaties with particular attention to
AKI
CKD
Hypertension
ADPKD
CKD-MBD
Patients with decompensated heart failure undergoing either medical or surgery therapy
Patients with hematologic cancer exposed to chemotherapeutic agents or undergoing allogeneic bone marrow transplantation
glomerular diseases
AKI
CKD
Hypertension
ADPKD
CKD-MBD
Patients with decompensated heart failure undergoing either medical or surgery therapy
Patients with hematologic cancer exposed to chemotherapeutic agents or undergoing allogeneic bone marrow transplantation
glomerular diseases
Detailed Description:
Background In the past ten years theres been a progressive increase in the prevalence of CKD and consequently in the number of dialysed patients 4 per year in Italy This is probably due to the increasingly ageing population and incidence of CV disease cf Lombardy Register To date diabetes and CV disease are the most common cause of end-stage renal disease ESRD requiring RRT Nonetheless intrinsic renal diseases still remain an important cause of CKD In the past few years various environmental factors have been identified that affect the clinical progression of kidney disease blood pressure control lipid and glycemic profile expecially in the setting of diabetic nephropaty uric acid level and acid-base homeostasis Recently there have been found some genes responsible for monogenic hereditary diseases such as ADPKD PKD1 e PKD2 and Alport syndrome COL4A3COL4A4COL4A5 It is known that theres an important phenotypic heterogeneity among different patients with the same disease even in the same family because of incomplete penetrance 5 Furthermore it is well known that familiarity overbear all other risk factors in predicting the development of hypertension and its progression toward CKD Many scientific findings show the link between some genetic polymorphisms eg ACE adducin and disease severity or development of various complications There is now increasingly scientific evidence that genetic palys an important role even in the development and progression of multifactorial renal disease with both protective or promoting possible pathways Thus It would seem that interactions between environmental and genetic factors are responsible for disease phenotypic heterogeneity and its progression
Aim of the study
Extend the knowledge on genetic modifiers involved in disease progression to better classify patients in homogeneous groups based on aetiology and concomitant risk factors According to the underlying pathology patients will be assessed either alone or with their family to evaluate the phenotypic heterogeneity
Evaluate the role of drugs that targets genetic or environmental factors
Assess the role of gentic background in the development of CV complications in CKD patients undergoing dyalisis
Assess the role of immature progenitor cells in the progression of kidney disease
Evaluate the role of endogenous Ouabain to identify at increased risk for AKI 1 Postoperative patients 2 patients with decompensated heart failure undergoing surgery or PCI 3 patients with severe hypovolemic shock due to either cardiologic causes eg AMI or from other causes eg sepsis hypertensive crisis 4 patients with hematologic cancer exposed to chemotherapeutic agents or undergoing allogeneic bone marrow transplantation
Identify the presence of genetic modifiers influencing the development and progression of CKD
Evaluate the role of genetic polymorphism in the transition from hypertension to kidney disease
Assess the role of salt intake in BP control and CKD progression either alone or in the presence of genetic modifiers
Evaluate the role of protein intake restriction in CKD progression eitehr alone or in the presence of genetic modifiers
Identify cortical bone lesions in CKD
Assess the role of genetic nutritional and biochemical factors involved in the cortical bone development
Evaluate the role of genetic in the development of hypertension in patients who received allogenic bone marrow transplantation
The genetic polymorphisms that will be considered based on current knowledge are
Alpha beta gamma Adducin ADD1 ADD2 ADD3
Renin Angiotensin System RAAS
Glomerular proteins nephrine podocin cadherin
Renal tubular transport systems Na-Cl cotransport Na channel lithium Cl channel K channel Ca channel Amino Acids specialized tubular transporters ouabain drugs digoxin aquaporins ANP BNP
Genes linked to the metabolism and function of endogenous ouabain eg LSS and Klotho eg KL
Polycystin 1 polycystin 2 PKD1 and PKD2 uromodulline S di Alport COL4A3COL4A4COL4A5
For the study of any further genetic polymorphisms additional amendments to this research protocol will be formulated
Aim of the study
Extend the knowledge on genetic modifiers involved in disease progression to better classify patients in homogeneous groups based on aetiology and concomitant risk factors According to the underlying pathology patients will be assessed either alone or with their family to evaluate the phenotypic heterogeneity
Evaluate the role of drugs that targets genetic or environmental factors
Assess the role of gentic background in the development of CV complications in CKD patients undergoing dyalisis
Assess the role of immature progenitor cells in the progression of kidney disease
Evaluate the role of endogenous Ouabain to identify at increased risk for AKI 1 Postoperative patients 2 patients with decompensated heart failure undergoing surgery or PCI 3 patients with severe hypovolemic shock due to either cardiologic causes eg AMI or from other causes eg sepsis hypertensive crisis 4 patients with hematologic cancer exposed to chemotherapeutic agents or undergoing allogeneic bone marrow transplantation
Identify the presence of genetic modifiers influencing the development and progression of CKD
Evaluate the role of genetic polymorphism in the transition from hypertension to kidney disease
Assess the role of salt intake in BP control and CKD progression either alone or in the presence of genetic modifiers
Evaluate the role of protein intake restriction in CKD progression eitehr alone or in the presence of genetic modifiers
Identify cortical bone lesions in CKD
Assess the role of genetic nutritional and biochemical factors involved in the cortical bone development
Evaluate the role of genetic in the development of hypertension in patients who received allogenic bone marrow transplantation
The genetic polymorphisms that will be considered based on current knowledge are
Alpha beta gamma Adducin ADD1 ADD2 ADD3
Renin Angiotensin System RAAS
Glomerular proteins nephrine podocin cadherin
Renal tubular transport systems Na-Cl cotransport Na channel lithium Cl channel K channel Ca channel Amino Acids specialized tubular transporters ouabain drugs digoxin aquaporins ANP BNP
Genes linked to the metabolism and function of endogenous ouabain eg LSS and Klotho eg KL
Polycystin 1 polycystin 2 PKD1 and PKD2 uromodulline S di Alport COL4A3COL4A4COL4A5
For the study of any further genetic polymorphisms additional amendments to this research protocol will be formulated
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