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Rete di studio sulla sindrome nefrosica (NEPTUNE)

5 novembre 2026 aggiornato da: Matthias Kretzler, University of Michigan

Rete di studio sulla sindrome nefrosica nell'ambito della rete di ricerca clinica sulle malattie rare

Minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), and Membranous nephropathy (MN), generate an enormous individual and societal financial burden, accounting for approximately 12% of prevalent end stage renal disease (ESRD) cases (2005) at an annual cost in the US of more than $3 billion. However, the clinical classification of these diseases is widely believed to be inadequate by the scientific community. Given the poor understanding of MCD/FSGS and MN biology, it is not surprising that the available therapies are imperfect. The therapies lack a clear biological basis, and as many families have experienced, they are often not beneficial, and in fact may be significantly toxic. Given these observations, it is essential that research be conducted that address these serious obstacles to effectively caring for patients.

In response to a request for applications by the National Institutes of Health, Office of Rare Diseases (NIH, ORD) for the creation of Rare Disease Clinical Research Consortia, a number of affiliated universities joined together with The NephCure Foundation the NIDDK, the ORDR, and the University of Michigan in collaboration towards the establishment of a Nephrotic Syndrome (NS) Rare Diseases Clinical Research Consortium.

Through this consortium the investigators hope to understand the fundamental biology of these rare diseases and aim to bank long-term observational data and corresponding biological specimens for researchers to access and further enrich.

Panoramica dello studio

Stato

Reclutamento

Condizioni

Intervento / Trattamento

Descrizione dettagliata

Idiopathic Nephrotic Syndrome (NS) is a rare disease syndrome responsible for approximately 12% of all causes of end-stage kidney disease (ESRD) and up to 20% of ESRD in children. Treatment strategies for Focal and Segmental Glomerulosclerosis (FSGS), Minimal Change Disease (MCD) and Membranous Nephropathy (MN), the major causes of NS, include high dose prolonged steroid therapy, cyclophosphamide, cyclosporine A, tacrolimus, mycophenolate mofetil and other immunosuppressive agents, which all carry significant side effects. Failure to obtain remission using the current treatment approaches frequently results in progression to ESRD with its associated costs, morbidities, and mortality. In the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) registry, half of the pediatric patients with Steroid Resistant Nephrotic Syndrome required renal replacement therapy within two years of being enrolled in the disease registry. FSGS also has a high recurrence rate following kidney transplantation (30-40%) and is the most common recurrent disease leading to allograft loss.

The prevailing classification of Nephrotic Syndrome categorizes patients into FSGS, MCD, and MN, if in the absence of other underlying causes, glomerular histology shows a specific histological pattern. This classification does not adequately predict the heterogeneous natural history of patients with FSGS, MCD, and MN. Major advances in understanding the pathogenesis of FSGS and MCD have come over the last ten years from the identification of several mutated genes responsible for causing Steroid Resistant Nephrotic Syndrome (SRNS) presenting with FSGS or MCD histopathology in humans and model organisms. These functionally distinct genetic disorders can present with indistinguishable FSGS lesions on histology confirming the presence of heterogeneous pathogenic mechanisms under the current histological diagnoses.

The limited understanding of FSGS, MCD, and MN biology in humans has necessitated a descriptive classification system in which heterogeneous disorders are grouped together. This invariably consigns these heterogeneous patients to the same therapeutic approaches, which use blunt immunosuppressive drugs that lack a clear biological basis, are often not beneficial, and are complicated by significant toxicity. The foregoing shortcomings make a strong case that concerted and innovative investigational strategies combining basic science, translational, and clinical methods should be employed to study FSGS, MCD, and MN. It is for these reasons that the Nephrotic Syndrome Study Network is established to conduct clinical and translational research in patients with FSGS/MCD and MN.

Tipo di studio

Osservativo

Iscrizione (Stimato)

1200

Contatti e Sedi

Questa sezione fornisce i recapiti di coloro che conducono lo studio e informazioni su dove viene condotto lo studio.

Contatto studio

Backup dei contatti dello studio

Luoghi di studio

  • Canada
    • Ontario
      • Richmond Hill, Ontario, Canada, L4C 4Z3
        • Completato
        • York Central Hospital
      • Scarborough Village, Ontario, Canada, M1H 3G4
        • Completato
        • Scarborough Hospital
      • Toronto, Ontario, Canada, M4N 3M5
        • Reclutamento
        • Sunnybrook Hospital
        • Investigatore principale:
          • Michelle Hladunewich, MD
        • Contatto:
      • Toronto, Ontario, Canada, L5M 2N1
        • Reclutamento
        • Credit Valley Hospital
        • Sub-investigatore:
          • Phillip Boll, MD
        • Contatto:
      • Toronto, Ontario, Canada, M5G2C4
        • Reclutamento
        • University Health Network
        • Contatto:
        • Contatto:
        • Investigatore principale:
          • Daniel Cattran, MD
        • Sub-investigatore:
          • Heather Reich, MD
        • Sub-investigatore:
          • Michelle Hladunewich, MD
  • Stati Uniti
    • California
      • Los Angeles, California, Stati Uniti, 90227
        • Reclutamento
        • University of Southern California-Children's Hospital
        • Investigatore principale:
          • Kevin Lemley, MD, PhD
        • Contatto:
      • Palo Alto, California, Stati Uniti, 94304
        • Reclutamento
        • Stanford University School of Medicine
        • Contatto:
        • Investigatore principale:
          • Richard Lafayette, MD
      • San Francisco, California, Stati Uniti, 94158
        • Non ancora reclutamento
        • University of California San Francisco Benioff Children's Hospitals
        • Investigatore principale:
          • Paul Brakeman, MD, PhD
        • Contatto:
      • Torrance, California, Stati Uniti, 90502
        • Reclutamento
        • Lundquist Biomedical Research Institute at Harbor UCLA Medical Center
        • Contatto:
        • Investigatore principale:
          • Sharon Adler, MD
    • Colorado
      • Aurora, Colorado, Stati Uniti, 80045
      • Aurora, Colorado, Stati Uniti, 80045
        • Non ancora reclutamento
        • University of Colorado Anschutz School of Medicine
        • Investigatore principale:
          • Amber Podoll, MD
        • Contatto:
    • Florida
      • Miami, Florida, Stati Uniti, 33136
        • Reclutamento
        • University of Miami Miller School of Medicine
        • Contatto:
        • Investigatore principale:
          • Alessia Fornoni, MD. PhD
    • Georgia
      • Atlanta, Georgia, Stati Uniti, 30322
        • Reclutamento
        • Emory University and Children's Healthcare of Atlanta
        • Investigatore principale:
          • Laurence Greenbaum, MD, PhD
        • Contatto:
    • Illinois
      • Chicago, Illinois, Stati Uniti, 60680
        • Reclutamento
        • John Stroger Cook County Hospital
        • Contatto:
        • Investigatore principale:
          • Ambarish Athavale, MD
    • Kansas
      • Kansas City, Kansas, Stati Uniti, 66160
        • Reclutamento
        • University of Kansas Medical Center
        • Contatto:
        • Investigatore principale:
          • Ellen McCarthy, MD
    • Maryland
      • Baltimore, Maryland, Stati Uniti, 21287
        • Reclutamento
        • Johns Hopkins Medical Institute
        • Contatto:
        • Investigatore principale:
          • Alicia Neu, MD
        • Sub-investigatore:
          • Michael Choi, MD
      • Bethesda, Maryland, Stati Uniti, 20892
        • Completato
        • Kidney Disease Section, NIDDK, NIH
    • Michigan
      • Ann Arbor, Michigan, Stati Uniti, 48109
        • Reclutamento
        • University of Michigan Medical Center
        • Contatto:
        • Investigatore principale:
          • Matthias Kretzler, MD
        • Contatto:
          • Amanda Williams, BS - adult
          • Numero di telefono: 734-615-5017
          • Email: amwi@umich.edu
      • Ann Arbor, Michigan, Stati Uniti, 48109
        • Reclutamento
        • CS Mott Children's Hospital, University of Michigan
        • Sub-investigatore:
          • Debbie Gipson, MD, MS
        • Contatto:
    • Minnesota
      • Rochester, Minnesota, Stati Uniti, 55905
        • Completato
        • Mayo Clinic
    • Missouri
      • Kansas City, Missouri, Stati Uniti, 64108
        • Reclutamento
        • Children's Mercy Hospital
        • Investigatore principale:
          • Tarak Srivastava, MD
        • Contatto:
      • St Louis, Missouri, Stati Uniti, 63110
        • Non ancora reclutamento
        • Washington University - St Louis
        • Contatto:
        • Investigatore principale:
          • Vikas Dharnidharka, MD, PhD
    • New York
      • New Hyde Park, New York, Stati Uniti, 11040
        • Reclutamento
        • Cohen Children's Hospital
        • Investigatore principale:
          • Christine Sethna, MD
        • Contatto:
      • New York, New York, Stati Uniti, 10032
        • Reclutamento
        • Columbia University Medical Center
        • Investigatore principale:
          • Andrew Bomback, MD, MPH
        • Contatto:
      • New York, New York, Stati Uniti, 10010
        • Reclutamento
        • New York University Medical Center
        • Contatto:
        • Investigatore principale:
          • Olga Zhadnova, MD
        • Investigatore principale:
          • Howard Trachtman, MD
        • Contatto:
      • New York, New York, Stati Uniti, 10016
        • Reclutamento
        • Bellevue Hospital
        • Contatto:
        • Investigatore principale:
          • Laura Barisoni, MD
        • Sub-investigatore:
          • Olga Zhadnova, MD
      • New York, New York, Stati Uniti, 10016
        • Reclutamento
        • New York University Veterans Administration
        • Contatto:
        • Investigatore principale:
          • Laura Barisoni, MD
        • Sub-investigatore:
          • Olga Zhadnova, MD
      • The Bronx, New York, Stati Uniti, 11040
        • Reclutamento
        • Montefiore Medical Center
        • Contatto:
        • Sub-investigatore:
          • Robert Woroniecki, MD
        • Investigatore principale:
          • Frederick Kaskel, MD
    • North Carolina
      • Chapel Hill, North Carolina, Stati Uniti, 27599
        • Reclutamento
        • University of North Carolina at Chapel Hill
        • Contatto:
        • Investigatore principale:
          • Patrick H. Nachman, MD
        • Sub-investigatore:
          • Susan L. Hogan, PhD, MPH
        • Sub-investigatore:
          • Keisha Gibson, MD
        • Contatto:
      • Charlotte, North Carolina, Stati Uniti, 28203
        • Reclutamento
        • Atrium Health Levine Children's Hospital
        • Investigatore principale:
          • Susan Massengill, MD
        • Contatto:
      • Winston-Salem, North Carolina, Stati Uniti, 27157
        • Ritirato
        • Wake Forest School of Medicine
    • Ohio
      • Cleveland, Ohio, Stati Uniti, 44195
        • Reclutamento
        • Cleveland Clinic
        • Sub-investigatore:
          • Katherine Dell, MD
        • Contatto:
        • Contatto:
          • Villarreal
      • Cleveland, Ohio, Stati Uniti, 44106
        • Completato
        • University Hospital Rainbow Babies & Children's Hospital
      • Cleveland, Ohio, Stati Uniti, 44109
        • Completato
        • MetroHealth Hospital at Case Western Medical Center
      • Columbus, Ohio, Stati Uniti, 43210
        • Reclutamento
        • The Ohio State University Wexner Medical Center
        • Contatto:
        • Investigatore principale:
          • Salem Almaani, MD
    • Pennsylvania
      • Philadelphia, Pennsylvania, Stati Uniti, 19104
        • Reclutamento
        • University of Pennsylvania
        • Contatto:
        • Investigatore principale:
          • Lawrence Holzman, MD
        • Contatto:
      • Philadelphia, Pennsylvania, Stati Uniti, 19104
        • Reclutamento
        • Children's Hospital of Philadelphia
        • Sub-investigatore:
          • Kevin Meyers, MD
        • Contatto:
      • Philadelphia, Pennsylvania, Stati Uniti, 19140
        • Reclutamento
        • Temple University
        • Contatto:
        • Investigatore principale:
          • Crystal Gadegbeku, MD
        • Investigatore principale:
          • Iris Lee, MD
    • South Carolina
      • Charleston, South Carolina, Stati Uniti, 29425
        • Reclutamento
        • Medical University of South Carolina
        • Investigatore principale:
          • David Selewski, MD, MS
    • Texas
      • Dallas, Texas, Stati Uniti, 75390
      • Houston, Texas, Stati Uniti, 77030
        • Reclutamento
        • Texas Children's Hospital - Baylor College of Medicine
        • Contatto:
        • Investigatore principale:
          • Shweta S. Shah, MD
    • Washington
      • Seattle, Washington, Stati Uniti, 98195
      • Seattle, Washington, Stati Uniti, 98145
      • Spokane, Washington, Stati Uniti, 99204
        • Reclutamento
        • Providence Medical Research Center
        • Contatto:
        • Sub-investigatore:
          • Katherine Tuttle, MD
        • Contatto:

Criteri di partecipazione

I ricercatori cercano persone che corrispondano a una certa descrizione, chiamata criteri di ammissibilità. Alcuni esempi di questi criteri sono le condizioni generali di salute di una persona o trattamenti precedenti.

Criteri di ammissibilità

Età idonea allo studio

Non più vecchio di 80 anni (Bambino, Adulto, Adulto più anziano)

Accetta volontari sani

No

Sessi ammissibili allo studio

Tutto

Metodo di campionamento

Campione non probabilistico

Popolazione di studio

Patients with signs and symptoms of kidney disease consistent with FSGS, MCD, MN or proteinuric renal disease or pediatric participants not previously biopsied, who present for patient care at participating clinical centers will be eligible for Cohort A (biopsy cohort) study population targeted for enrollment into the NEPTUNE study.

To establish a cohort of pediatric participants with incident nephrotic syndrome, Cohort B, a non-biopsy cohort has been initiated for Protocol V4.0. This population, <19 years of age, presenting for nephrotic syndrome and less than 30 days of immunosuppression therapy exposure, will also be targeted for enrollment into the cNEPTUNE study.

Potential participants willing to receive their initial care and subsequent follow-up study visits at one of these sites are welcome to participate.

Descrizione

Cohort A (biopsy cohort) Inclusion Criteria:

Patients presenting with an incipient clinical diagnosis for FSGS/MCD or MN or pediatric participants not previously biopsied, with a clinical diagnosis for FSGS/MCD or MN meeting the following inclusion criteria:

  • Documented urinary protein excretion ≥1500 mg/24 hours or spot protein: creatinine ratio equivalent at the time of diagnosis or within 3 months of the screening/eligibility visit.
  • Scheduled renal biopsy

Cohort B (non-biopsy, cNEPTUNE) Inclusion Criteria:

  • Age <19 years of age

  • Initial presentation with <30 days immunosuppression therapy

  • Proteinuria/nephrotic

    • UA>2+ and edema OR
    • UA>2+ and serum albumin <3 OR
    • UPC > 2g/g and serum albumin <3

Exclusion Criteria (Cohort A&B):

  • Prior solid organ transplant
  • A clinical diagnosis of glomerulopathy without diagnostic renal biopsy
  • Clinical, serological or histological evidence of systemic lupus erythematosus (SLE) as defined by the ARA criteria. Patients with membranous in combination with SLE will be excluded because this entity is well defined within the International Society of Nephrology/Renal Pathology Society categories of lupus nephritis, and frequently overlaps with other classification categories of SLE nephritis (68)
  • Clinical or histological evidence of other renal diseases (Alport, Nail Patella, Diabetic Nephropathy, IgA-nephritis, monoclonal gammopathy (multiple myelomas), genito-urinary malformations with vesico-urethral reflux or renal dysplasia)
  • Known systemic disease diagnosis at time of enrollment with a life expectancy less than 6 months
  • Unwillingness or inability to give a comprehensive informed consent
  • Unwillingness to comply with study procedures and visit schedule
  • Institutionalized individuals (e.g., prisoners)

Piano di studio

Questa sezione fornisce i dettagli del piano di studio, compreso il modo in cui lo studio è progettato e ciò che lo studio sta misurando.

Come è strutturato lo studio?

Dettagli di progettazione

  • Modelli osservazionali: COHORT
  • Prospettive temporali: PROSPECTIVE

Coorti e interventi

Gruppo / Coorte
Intervento / Trattamento
FSGS/MCD Cohort (Cohort A)

Focal Segmental Glomerulosclerosis/Minimal Change Disease (FSGS/MCD) Cohort

Participants enrolled in NEPTUNE with a biopsy proven histological diagnosis for FSGS or MCD.

Eligible participants must be scheduled for a clinically indicated renal biopsy.
Procedura: Kidney Biopsy

Patients scheduled to undergo a clinically indicated kidney biopsy will be requested to consent to an additional renal core, to be set aside until all clinical care is complete.
MN Cohort (Cohort A)

Membranous Nephropathy (MN) Cohort

Participants enrolled in NEPTUNE with a biopsy proven histological diagnosis for MN.

Eligible participants must be scheduled for a clinically indicated renal biopsy.
Procedura: Kidney Biopsy

Patients scheduled to undergo a clinically indicated kidney biopsy will be requested to consent to an additional renal core, to be set aside until all clinical care is complete.
Other glomerulopathies cohort

Participants enrolled in NEPTUNE and determined to not have FSGS/MCD or MN will be followed in a third group.

Eligible participants must be scheduled for a clinically indicated renal biopsy.
Procedura: Kidney Biopsy

Patients scheduled to undergo a clinically indicated kidney biopsy will be requested to consent to an additional renal core, to be set aside until all clinical care is complete.
cNEPTUNE (Cohort B)

Participants < 19 years of age, with < 30 days exposure to immunosuppression therapy who are not scheduled for renal biopsy.

Cosa sta misurando lo studio?

Misure di risultato primarie

Misura del risultato
Misura Descrizione
Lasso di tempo
Event rate of change in urinary protein excretion and renal function.
Lasso di tempo: 60 months

Defined as remission, partial remission and non-remission
60 months
Rate of change in renal function.
Lasso di tempo: 60 months

Defined as:

  1. 25 mls/min/1.73m2 reduction in follow-up estimated GFR (using the 4-variable MDRD equation for ages ≥18 years and modified Schwartz for ages <18 years) compared to baseline estimated GFR
  2. 50% decline in follow-up estimated GFR compared to baseline measurement
  3. End stage renal disease defined as estimated GFR ≤10cc/min, initiation of maintenance dialysis or preemptive kidney transplantation.
60 months

Misure di risultato secondarie

Misura del risultato
Misura Descrizione
Lasso di tempo
Quality of Life:
Lasso di tempo: 60 months

Patient-reported outcome will be assessed using Quality of Life questionnaires at regular intervals as stipulated in the visit calendar using the SF-36, PedsQL and the Patient Reported Outcome Measurement Information System (PROMIS) (in the age-appropriate groups).
60 months
Malignancies
Lasso di tempo: 60 months

Any cancer diagnosis of the skin, hematopoietic system, or solid organ after enrollment in NEPTUNE
60 months
Infections, Serious and Systemic
Lasso di tempo: 60 months

Infections including one of the following:

  1. Documented diagnosis of infection of the skin or subcutaneous tissue (e.g. cellulitis), vascular system, peritoneum, or any vital organ requiring the use of parenteral antibiotics and/or oral antibiotics alone or in combination for a treatment interval of ≥72 hours.
  2. Hospitalization for treatment of infection
60 months
Thromboembolic Events
Lasso di tempo: 60 months

Documented diagnosis of one of the following:

  1. Embolic cerebrovascular accident
  2. Deep venous thrombosis
  3. Renal vein thrombosis or
  4. Pulmonary embolus
60 months
Hospitalization
Lasso di tempo: 60 months

Documented hospital admission, including observation for ≥24 hours.
60 months
Emergency Department/ Observation Unit Visit
Lasso di tempo: 60 months

Documented visit to an emergency department or observation unit that does not lead to hospitalization and is less than 24 hours.
60 months
Acute Kidney Injury
Lasso di tempo: 60 months

Documented diagnosis of acute kidney injury as defined by the AKIN (Mehta et al., Critical Care 2007, 11:R31) and/or renal failure requiring renal replacement therapy <3 months.
60 months
Death
Lasso di tempo: 60 months
  1. Documentation of death that is secondary to infection or sepsis.
  2. Cardiovascular/Cerebrovascular-related Death: Sudden death; Myocardial infarction; Congestive heart failure; Primary intractable serious arrhythmia; Peripheral vascular disease; Ischemic cerebrovascular accident; Hemorrhagic cerebrovascular accident; Thromboembolic event
  3. Documentation of death secondary to cancer
  4. Other Death: Documentation of death that does not fall into the above categories.
60 months
New Onset Diabetes
Lasso di tempo: 60 months

Diagnosis of diabetes as indicated by 1 or more of the following not present at NEPTUNE Enrollment:

  1. Documented diagnosis of diabetes in medical record
  2. Casual (non-fasting) blood glucose > 200 mg/dL c) Fasting blood glucose > 126 mg/dL d) 2 hour glucose > 200 after oral glucose tolerance test e) chronic use (>6 mos) hypoglycemic therapy outside of pregnancy f) Hemogloblin A1C >= 6.5%
60 months

Collaboratori e investigatori

Qui è dove troverai le persone e le organizzazioni coinvolte in questo studio.

Sponsor

University of Michigan

Collaboratori

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
The NephCure Foundation

Investigatori

  • Investigatore principale: Matthias Kretzler, MD, University of Michigan

Pubblicazioni e link utili

La persona responsabile dell'inserimento delle informazioni sullo studio fornisce volontariamente queste pubblicazioni. Questi possono riguardare qualsiasi cosa relativa allo studio.

Pubblicazioni generali

Collegamenti utili

Studiare le date dei record

Queste date tengono traccia dell'avanzamento della registrazione dello studio e dell'invio dei risultati di sintesi a ClinicalTrials.gov. I record degli studi e i risultati riportati vengono esaminati dalla National Library of Medicine (NLM) per assicurarsi che soddisfino specifici standard di controllo della qualità prima di essere pubblicati sul sito Web pubblico.

Studia le date principali

Inizio studio (Effettivo)

1 aprile 2010

Completamento primario (Stimato)

31 dicembre 2030

Completamento dello studio (Stimato)

31 dicembre 2030

Date di iscrizione allo studio

Primo inviato

29 luglio 2010

Primo inviato che soddisfa i criteri di controllo qualità

23 settembre 2010

Primo Inserito (Stimato)

24 settembre 2010

Aggiornamenti dei record di studio

Ultimo aggiornamento pubblicato (Effettivo)

10 novembre 2026

Ultimo aggiornamento inviato che soddisfa i criteri QC

5 novembre 2026

Ultimo verificato

1 novembre 2026

Maggiori informazioni

Termini relativi a questo studio

Parole chiave

Termini MeSH pertinenti aggiuntivi

Altri numeri di identificazione dello studio

  • 6801
  • 1U54DK083912 (Sovvenzione/contratto NIH degli Stati Uniti)
  • 1R01DK141114-01A1 (Sovvenzione/contratto NIH degli Stati Uniti)

Queste informazioni sono state recuperate direttamente dal sito web clinicaltrials.gov senza alcuna modifica. In caso di richieste di modifica, rimozione o aggiornamento dei dettagli dello studio, contattare register@clinicaltrials.gov. Non appena verrà implementata una modifica su clinicaltrials.gov, questa verrà aggiornata automaticamente anche sul nostro sito web .

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