NCT00883636

Cardiomyopathy in Steroid-resistant Nephrotic Syndrome: Impact of Focal Segmental Glomerulosclerosis

• Status: Terminated
• Phase: —
• Study type: Observational
• Enrollment: 4 (actual)
• Sponsor: Northwell Health · Academic / Other
• Sex: All
• Age: 6 Months – 21 Years
• Healthy volunteers: Not accepted

Summary

The objective of this study is as follows: * Perform genetic analysis to define the prevalence of each of the known gene mutations in an unselected cohort of patients with focal segmental glomerulosclerosis (FSGS) * Perform a comprehensive assessment of cardiovascular status to determine the incidence of any cardiac abnormalities in patients with FSGS * Determine if patients with mutations in specific proteins are more likely to have cardiovascular abnormalities * Initiate long-term follow up in all patients to determine whether cardiac prognosis is related to any specific genetic abnormality

Detailed description

Nephrotic Syndrome is a frequent cause of chronic kidney disease in children. Patients who are unresponsive to treatment with corticosteroids are further categorized as having steroid resistant nephrotic syndrome (SRNS). Renal biopsy in SRNS patients often reveal the histological lesion of focal segmental glomerulosclerosis (FSGS). Genetic research has identified mutations in specific podocyte proteins, which may lead to the development of steroid resistant nephrotic syndrome. In addition to being expressed in the fetal adult kidney, human podocin mRNA is also expressed in the fetal heart tissue. Multiple case reports have described an association between cardiac abnormalities and familial FSGS. These findings suggest that this gene may be involved in the pathogenesis of cardiac abnormalities seen in this population. The objectives of this study is to: * Perform genetic analysis to define the prevalence of each of the known podocyte gene mutations in an unselected cohort of patients with FSGS * Perform a comprehensive assessment of cardiovascular status to determine the incidence of any cardiac abnormalities in patients with FSGS * Determine if patients with mutations in specific podocyte proteins are more likely to have cardiovascular abnormalities * Initiate long-term follow up in all patients to determine whether cardiac prognosis is related to any specific genetic abnormality

Conditions

• Focal Segmental Glomerulosclerosis
• Nephrotic Syndrome
• Steroid Resistant Nephrotic Syndrome
• Chronic Kidney Disease

Interventions

Type	Name	Description
OTHER	Cardiovascular Assessment	Measure of BNP, and Pro-BNP Complete 2 Dimensional Echocardiogram with Doppler evaluation including determination of, Left Ventricular mass, Ejection fraction, Midwall fractional shortening, velocity of early and late diastolic transmitral flow, and measurement of E/A ratio, Ratio of end-systolic wall stress to rate corrected velocity of circumferential fiber shortening.
OTHER	Renal Assessment	Complete a metabolic panel, CMP. Calculation of glomerular filtration rate, GFR, measure of urinary total protein, albumin and creatinine excretion in a first morning urine sample, 24 hour blood pressure monitoring,
OTHER	Genetic Evaluation	All patients will undergo genetic screening for all known podocyte gene mutations.

Timeline

• Start date: 2008-10-01
• Primary completion: 2011-08-01
• Completion: 2011-10-01
• First posted: 2009-04-20
• Last updated: 2013-06-19

Locations

1 site across 1 country: United States