Clinical trial NCT00883636: Cardiomyopathy in Steroid-resistant Nephrotic Syndrome: Impact of Focal Segmental Glomerulosclerosis
Official title: Cardiomyopathy in Steroid-resistant Nephrotic Syndrome: Impact of Focal Segmental Glomerulosclerosis
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Focal Segmental Glomerulosclerosis
Nephrotic Syndrome
Steroid Resistant Nephrotic Syndrome
Chronic Kidney Disease
Keywords: Podocyte Protein
Podocyte Mutation
Lead sponsor: Northwell Health
Sponsor class: OTHER
First posted: 2009-04-20
Enrollment: 4
Sex: ALL
Minimum age (years): 6
Maximum age (years): 21
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Focal Segmental Glomerulosclerosis Patients and Non Focal Segmental Glomerulosclerosis SRNS patients

Brief 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

Eligibility criteria: Inclusion Criteria:

* Age 6 months - 21 years
* SRNS, defined as failure to achieve remission in proteinuria after 4-6 weeks of daily steroid therapy in accord with ISKDC guidelines
* GFR \> 30 ml/min/1.73 m\^2
* Renal disease diagnosed based on kidney biopsy

Exclusion Criteria:

* Secondary FSGS
* Prior renal transplantation
* Congenital extra-renal abnormalities
* Significant structural cardiac abnormalities
* pulmonary, hematologic, malignancy, or immune-related disease
* inability to maintain adequate follow-up

Primary outcomes:
measure: Presence or Absence of any of the podocin gene mutations
timeFrame: baseline
Secondary outcomes:
Other outcomes:
Locations:
city: New Hyde Park
country: United States
facility: Schneider Children's Hospital
state: New York
Study officials:
affiliation: Northwell Health
name: Deborah Mensch, M.D.
role: PRINCIPAL_INVESTIGATOR
References: