Ignite Creation Date:
2024-05-05 @ 11:21 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001393
Status:
COMPLETED
Last Update Posted:
2024-06-28
First Post:
1999-11-03
Brief Title:
Genetic Markers for Focal Segmental Glomerulosclerosis
Sponsor:
National Institute of Diabetes and Digestive and Kidney Diseases NIDDK
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Genetic Markers for Focal Segmental Glomerulosclerosis
Status:
COMPLETED
Status Verified Date:
2024-05-07
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:
Glomerulonephritis is a disease which affect the kidneys Occasionally these diseases can progress to a loss of kidney function in some patients Glomerulosclerosis or focal segmental glomerulosclerosis FSGS is one form of glomerulonephritis
The cause of FSGS is unknown and often occurs on its own idiopathic or it can be associated with HIV Human Immunodeficiency Virus FSGS occurs more commonly among black patients than Caucasian or Hispanic patients Researchers believe that environmental factors may interact with genetic mutations to cause FSGS at least in some patients
This study will attempt to identify genetic factors associated with the development of FSGS The study population will be made up of 600 total subjects divided into 3 groups Group one will be 200 African-Americans with FSGS Group two will be 200 African-Americans with HIV but without FSGS Group three will be 200 non-African-Americans with FSGS
Study participation requires that researchers obtain 20 ml 2 tubes of blood The genetic material DNA will be prepared from the white blood cells and analyzed The results of each group will be compared with the results from the other groups to determine if one or more genes predisposes to FSGS In the long run studies that demonstrate a genetic basis for FSGS may help us identify patients earlier and may lead to improved therapies
The cause of FSGS is unknown and often occurs on its own idiopathic or it can be associated with HIV Human Immunodeficiency Virus FSGS occurs more commonly among black patients than Caucasian or Hispanic patients Researchers believe that environmental factors may interact with genetic mutations to cause FSGS at least in some patients
This study will attempt to identify genetic factors associated with the development of FSGS The study population will be made up of 600 total subjects divided into 3 groups Group one will be 200 African-Americans with FSGS Group two will be 200 African-Americans with HIV but without FSGS Group three will be 200 non-African-Americans with FSGS
Study participation requires that researchers obtain 20 ml 2 tubes of blood The genetic material DNA will be prepared from the white blood cells and analyzed The results of each group will be compared with the results from the other groups to determine if one or more genes predisposes to FSGS In the long run studies that demonstrate a genetic basis for FSGS may help us identify patients earlier and may lead to improved therapies
Detailed Description:
Focal segmental glomerulosclerosis FSGS and a related condition collapsing glomerulopathy are chronic renal diseases affecting the glomerular podocytes Currently over thirteen genetic mutations are associated with FSGS We are interested in expanding our understanding of these and other genes that may cause FSGS and collapsing glomerulopathy We will study individuals with affected family members We will also study sporadic cases the rationale for studying this population is that FSGS and collapsing glomerulopathy are significantly more common among individuals of African descent The latter observation suggests that particular FSGS-susceptibility alleles may be more common among African Americans In the present study we are addressing the hypothesis that genetic variation contributes to the pathogenesis of idiopathic FSGS and collapsing glomerulopathy both idiopathic and HIV-associated variants We are studying the following groups 1 African-Americans with idiopathic or HIV-associated collapsing glomerulopathy We will exclude post-adaptive FSGS associated with glomerular hyperfiltration and medication associated FSGS 2 Other patients with idiopathic FSGS 3 African Americans with HIV and without kidney disease hyper-normal controls 4 African descent controls controls 5 Healthy European and Asian descent controls controls 6 Relatives of patients with familial FSGS 7 Kidney donors 8 Tamils We are taking four methodologic approaches First we are examining known FSGS risk genes or candidate genes looking for disease-causing mutations and for disease-susceptibility haplotypes Second we have undertaken a genome scan in the African descent population We may also undertake a whole genome scan in European and Asian descent Evidence of linkage disequilibrium among these markers will be sought between patients with and without FSGS Third when we identify families with multiple affected individuals and which lack known genetic mutations affecting FSGS genes we will pursue positional cloning Fourth we will generate iPSC from peripheral blood from individuals with kidney disease with a particular focus on those with particular genetic variants associated with glomerular disease and from healthy volunteers We will generate podocytes to understand mechanisms of FSGS and possibly macrophages to understand reverse cholesterol transport with relevance to nephrotic syndrome and more broadly cardiovascular disease
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
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 94-DK-0133 | None | None | None |