Focal Segmental GlomerulosclerosisNCT00883636
Cardiomyopathy in Steroid-resistant Nephrotic Syndrome: Impact of Focal Segmental Glomerulosclerosis
An observational study of Focal Segmental Glomerulosclerosis and Nephrotic Syndrome, run by Northwell Health at 1 site in United States.
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… Read more about this study
- Who is it for?
- Ages 6 months to 21 years
- Conditions the study is for
- Focal Segmental Glomerulosclerosis, Nephrotic Syndrome, Steroid Resistant Nephrotic Syndrome
- What is being tested?
- Cardiovascular Assessment, Renal Assessment and Genetic Evaluation
- How many people
- 4 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 2008to Oct 2011
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months to 21 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Focal Segmental Glomerulosclerosis Patients and Non Focal Segmental Glomerulosclerosis SRNS patients
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
Schneider Children's Hospital
New Hyde Park, New York, 11040
About this study
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
Read the 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
- Being tested
- Cardiovascular Assessment, Renal Assessment, Genetic Evaluation
- Keywords
- Podocyte Protein, Podocyte Mutation
- Medical subject headings
- Glomerulosclerosis, Focal Segmental, Nephrotic Syndrome, Renal Insufficiency, Chronic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Cardiovascular AssessmentOther
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 AssessmentOther
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 EvaluationOther
All patients will undergo genetic screening for all known podocyte gene mutations.
| Study group | Role | What they receive |
|---|---|---|
| Focal Segmental Glomerulosclerosis | Not described Receives: Other: Cardiovascular Assessment; Other: Renal Assessment; Other: Genetic Evaluation | |
| Non-Focal Segmental Glomerulosclerosis | Not described Receives: Other: Cardiovascular Assessment; Other: Renal Assessment; Other: Genetic Evaluation |
What is being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Apr 2009 (estimated)
- Study startOct 2008
- Primary completionAug 2011
- Study completionOct 2011
Why it stopped: study stopped due to lack of activity
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Focal Segmental GlomerulosclerosisStudies of the same condition, open and under way.
- More trials run by Northwell HealthThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- Northwell Health
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Deborah Mensch, M.D., Principal investigator, Northwell Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00883636
- Sponsor's protocol ID
- GCRC 0245
- Other IDs
- IRB# 08-163
- Status last verified
- Jun 2013
- First submitted
- 17 Apr 2009
- Last updated
- 19 Jun 2013
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Jun 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cardiomyopathy in Steroid-resistant Nephrotic Syndrome: Impact of Focal Segmental Glomerulosclerosis
- ClinicalTrials.gov ID
- NCT00883636
- Acronym / sponsor ID
- GCRC 0245
- Conditions
- Focal Segmental Glomerulosclerosis, Nephrotic Syndrome, Steroid Resistant Nephrotic Syndrome, Chronic Kidney Disease
- Keywords
- Podocyte Protein, Podocyte Mutation
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: study stopped due to lack of activity
- Enrolment
- 4 participants (actual)
- Lead sponsor
- Northwell HealthUniversity, hospital or other
- Study start
- Oct 2008
- Primary completion
- Aug 2011 (actual)
- Study completion
- Oct 2011 (actual)
- First posted
- 20 Apr 2009 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 6 months to 21 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Focal Segmental Glomerulosclerosis Patients and Non Focal Segmental Glomerulosclerosis SRNS patients
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (6 listed)
- Secondary FSGS
- Prior renal transplantation
- Congenital extra-renal abnormalities
- Significant structural cardiac abnormalities
- pulmonary, hematologic, malignancy, or immune-related disease
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Cardiovascular AssessmentMeasure 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 | Focal Segmental Glomerulosclerosis, Non-Focal Segmental Glomerulosclerosis |
| Renal AssessmentComplete 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 | Focal Segmental Glomerulosclerosis, Non-Focal Segmental Glomerulosclerosis |
| Genetic EvaluationAll patients will undergo genetic screening for all known podocyte gene mutations. | Other | Focal Segmental Glomerulosclerosis, Non-Focal Segmental Glomerulosclerosis |
Primary outcome
Presence or Absence of any of the podocin gene mutations
Time frame: baseline
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)
Results and safety
The study was stopped early (reason given: study stopped due to lack of activity). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jun 2013.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Deborah Mensch, M.D. principal investigator
Northwell Health
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Focal Segmental Glomerulosclerosis and Nephrotic Syndrome, run by Northwell Health at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 19 Jun 2013. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: study stopped due to lack of activity). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Presence or Absence of any of the podocin gene mutations (time frame: baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Jun 2013.