Cardiomyopathy in Steroid-Resistant Nephrotic Syndrome: Impact of Focal Segmental Glomerulosclerosis
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
Study Design
Observational Model: Cohort, Time Perspective: Prospective
Conditions
Focal Segmental Glomerulosclerosis
Intervention
Cardiovascular Assessment, Renal Assessment, Genetic Evaluation
Location
Schneider Children's Hospital
New Hyde Park
New York
United States
11040
Status
Enrolling by invitation
Source
North Shore Long Island Jewish Health System
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT00883636
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
Outcome And Process Assessment (health Care)
Evaluation procedures that focus on both the outcome or status (OUTCOMES ASSESSMENT) of the patient at the end of an episode of care - presence of symptoms, level of activity, and mortality; and the process (ASSESSMENT, PROCESS) - what is done for the patient diagnostically and therapeutically.
Nutrition Assessment
Evaluation and measurement of nutritional variables in order to assess the level of nutrition or the NUTRITIONAL STATUS of the individual. NUTRITION SURVEYS may be used in making the assessment.
Needs Assessment
Systematic identification of a population's needs or the assessment of individuals to determine the proper level of services needed.
Geriatric Assessment
Evaluation of the level of physical, physiological, or mental functioning in the older population group.
United States Office Of Technology Assessment
An office established to help Congress participate and plan for the consequences of uses of technology. It provided information on both the beneficial and adverse effects of technological applications. The Office of Technology Assessment closed on September 29, 1995.
Clinical Trials
The purpose of this study is to evaluate the safety and tolerability of FG-3019 administered over 8 weeks to adolescent and adult subjects with steroid-resistant focal segmental glomerulos...
The purpose was study the immunosuppression using total lymphoid irradiation plus Csa, MMF and prednisone pretransplant to prevent focal segmental glomerulosclerosis recurrence in the ren...
This study will investigate whether GC1008, an antibody which neutralizes TGF-beta, is safe in treating patients with the disease called focal segmental glomerulosclerosis (FSGS). The high...
Rituximab Treatment of Focal Segmental Glomerulosclerosis
The purpose of this study is to determine whether the approved drug, rituximab, is effective in the treatment of focal segmental glomerulosclerosis (FSGS)
Tacrolimus Treatment of Patients With Idiopathic Focal Segmental Glomerulosclerosis
The purpose of this study is to assess the efficacy of Tacrolimus Treatment of patients with idiopathic focal segmental glomerulosclerosis.
PubMed Articles
Abstract Therapy of recurrent focal segmental glomerulosclerosis (FSGS) in the renal allograft is largely based on case reports. The use of plasmapheresis alone (based on its effectiveness in children...
Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.
Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting th...
Problems with 'focal segmental glomerulosclerosis'
The term 'focal segmental glomerulosclerosis (FSGS)' has been applied to many different conditions. All classifications of 'FSGS', including those describing 'variants', perpetuate the misconceptions...
Focal segmental glomerulosclerosis in association with Gitelman syndrome.
Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. Glomerulonephritis associated with GS is rarely documente...
MYO1E, Focal Segmental Glomerulosclerosis, and the Cytoskeleton.
MYO1E, Focal Segmental Glomerulosclerosis, and the Cytoskeleton Editorial, N Engl J Med 2011;365:368-369. In the third paragraph (page 368), in the sentence that begins, "Mutations in APOL1," the term...
