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Clinical Trial Details — Status: Terminated

Administrative data

NCT number NCT00883636
Other study ID # GCRC 0245
Secondary ID IRB# 08-163
Status Terminated
Phase N/A
First received April 17, 2009
Last updated June 18, 2013
Start date October 2008
Est. completion date October 2011

Study information

Verified date June 2013
Source Northwell Health
Contact n/a
Is FDA regulated No
Health authority United States: Institutional Review Board
Study type Observational

Clinical Trial 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


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


Recruitment information / eligibility

Status Terminated
Enrollment 4
Est. completion date October 2011
Est. primary completion date August 2011
Accepts healthy volunteers No
Gender Both
Age group 6 Months to 21 Years
Eligibility 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

Study Design

Observational Model: Cohort, Time Perspective: Prospective


Related Conditions & MeSH terms


Intervention

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.
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,
Genetic Evaluation
All patients will undergo genetic screening for all known podocyte gene mutations.

Locations

Country Name City State
United States Schneider Children's Hospital New Hyde Park New York

Sponsors (1)

Lead Sponsor Collaborator
Northwell Health

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary Presence or Absence of any of the podocin gene mutations Presence or Absence of any of the podocin gene mutations
podocin gene (NPHS2)
CD2-associated protein (CD2AP)
actinin-4 (ACTN4)
Nephrotic syndrome steroid-resistant gene (SRN1)
Wilms Tumor 1(WT1)
Transient receptor potential cation channel, subfamily C, member 6 (TRPC6)
Phospholipase C-E1 (PLCE-1)
baseline No
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