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

NCT00883636 | Terminated

• 2 other identifiers: GCRC 0245IRB# 08-163
• Study Type: observational
• Target: 4
• Locations: 1 country
• Sites: 1

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

Conditions

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

Keywords

Podocyte Protein; Podocyte Mutation

Outcome Measures

Primary Outcomes (1)

• Presence or Absence of any of the podocin gene mutations

  Presence or Absence of any of the podocin gene mutations 1. podocin gene (NPHS2) 2. CD2-associated protein (CD2AP) 3. actinin-4 (ACTN4) 4. Nephrotic syndrome steroid-resistant gene (SRN1) 5. Wilms Tumor 1(WT1) 6. Transient receptor potential cation channel, subfamily C, member 6 (TRPC6) 7. Phospholipase C-E1 (PLCE-1)

  baseline

Study Arms (2)

Focal Segmental Glomerulosclerosis

Other: Cardiovascular Assessment; Other: Renal Assessment; Other: Genetic Evaluation

Non-Focal Segmental Glomerulosclerosis

Other: Cardiovascular Assessment; Other: Renal Assessment; Other: Genetic Evaluation

Interventions

Cardiovascular Assessment OTHER

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.

Focal Segmental Glomerulosclerosis; Non-Focal Segmental Glomerulosclerosis

Renal Assessment OTHER

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,

Focal Segmental Glomerulosclerosis; Non-Focal Segmental Glomerulosclerosis

Genetic Evaluation OTHER

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

Focal Segmental Glomerulosclerosis; Non-Focal Segmental Glomerulosclerosis

Eligibility Criteria

• Age: 6 Months - 21 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Focal Segmental Glomerulosclerosis Patients and Non Focal Segmental Glomerulosclerosis SRNS patients

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Northwell Health: lead

Study Sites (1)

Schneider Children's Hospital

New Hyde Park, New York, 11040, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood Serum, plasma

MeSH Terms

Conditions

Glomerulosclerosis, Focal Segmental; Nephrotic Syndrome; Renal Insufficiency, Chronic

Condition Hierarchy (Ancestors)

Glomerulonephritis; Nephritis; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Nephrosis; Renal Insufficiency; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Deborah Mensch, M.D.

  Northwell Health

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 17, 2009
• First Posted: April 20, 2009
• Study Start: October 1, 2008
• Primary Completion: August 1, 2011
• Study Completion: October 1, 2011
• Last Updated: June 19, 2013

Record last verified: 2013-06

Locations

US (1)