Genetic Markers for Focal Segmental Glomerulosclerosis : Genetic Markers for Focal Segmental Glomerulosclerosis

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)..

Medienart:	Klinische Studie

Erscheinungsjahr:	2024
Erschienen:	2024

Enthalten in:	ClinicalTrials.gov - (2024) vom: 29. März Zur Gesamtaufnahme - year:2024

Sprache:	Englisch

Links:	Volltext [kostenfrei]

Themen:	610 Glomerulosclerosis, Focal Segmental Recruitment Status: Completed Study Type: Observational

Anmerkungen:	Source: Link to the current ClinicalTrials.gov record., First posted: November 4, 1999, Last downloaded: ClinicalTrials.gov processed this data on April 03, 2024, Last updated: April 03, 2024

Study ID:	NCT00001393 940133 94-DK-0133
Veröffentlichungen zur Studie:

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PPN (Katalog-ID):	CTG000048712