ARREST-NEPHROSIS - Austrian Resistant Nephrotic Syndrome Treatment Response Registry and Biobank

Nephrotic syndrome is the clinical phenotype of a heterogeneous group of glomerular diseases that may present with varying degrees of urinary protein loss (proteinuria), dysproteinemia in the blood, fluid retention and impaired renal function.

The AustRian RESistanT NEPHROtic Syndrome Treatment Response RegIStry and Biobank (ARREST-NEPHROSIS) sets out to achieve the following goals, as typical categories of rare disease registries

1. Obtaining real world data on practice patterns and outcomes
2. Networking between affected patients, families, and clinicians.
3. Establish a patient base for facilitated recruitment in studies of drugs, medical devices, and products
4. Development of a Biobank to enable research of potential biomarkers and therapy or disease courses

Study Overview

• Status: Recruiting
• Conditions: Proteinuria; Focal Segmental Glomerulosclerosis; Nephrotic Syndrome; Nephrotic Syndrome Steroid-Resistant
• Intervention / Treatment: Other: Registry

Detailed Description

A significant proportion of patients with nephrotic syndrome remains unresponsive to currently used therapies ("resistant nephrotic syndrome"), the majority of them with focal segmental glomerulosclerosis (FSGS). FSGS is reported as an underlying condition in 5% of adult and 12% of pediatric patients with end-stage kidney disease (ESKD), ultimately requiring renal replacement therapy. The estimated incidence for FSGS is 7 patients per 1 million people.

Despite its clinical and financial burden, the pharmaceutical market for such rare (orphan) diseases is narrow, and industry is less likely to invest in research and to develop treatments for these than for more prevalent medical conditions. However, there remains an urgent need to find new treatments and test their efficacy in suitable trials in resistant nephrotic syndrome.

Patient registries are critical tools to tackle that unmet medical need in orphan diseases. The AustRian RESistanT NEPHROtic Syndrome Treatment Response RegIStry and Biobank (ARREST-NEPHROSIS) therefore sets out to achieve the following goals, in line with typical categories of rare disease registries: (1) networking between affected patients, families, and clinicians; (2) obtaining real world data on practice patterns and outcomes (3); establish a patient base for facilitated recruitment in studies of drugs, medical devices, and products, and (4) development of a biobank to enable research of potential biomarkers predicting disease courses under therapy.

To achieve these goals, the ARREST-NEPHROSIS registry aims for long-term data collection in patients from childhood to adulthood. Patients who fulfill the inclusion criteria (resistance to standard immunosuppressive agents (if clinically indicated, e.g. for primary/non-genetic forms), persistent urinary protein-to-creatinine (UP/C) ratio >1.0 g/g, eGFR > 30 ml/min per 1.73 m2 and a biopsy or a disease-causing genetic mutation associated with nephrotic syndrome) will be invited to the registry, and, after consent, will undergo clinical assessments and receive care as determined by the patient's treating physician. Clinical routine data will be transcribed into the registry to describe patient characteristics (e.g. age, sex, etc.), disease typology (e.g. biopsy and genetics findings, treatment history, etc.), disease activity (e.g. level of proteinuria) and renal function (e.g. eGFR decline).

The continuous prospective assessment of internationally harmonized endpoints suggested by the SONG-GD group (such as proteinuria, including patient reported outcomes (PROs), and the low barrier for access to novel therapeutic studies, will represent an important component of rare disease research in Austria and might ultimately improve health outcomes in this vulnerable population.

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Christoph Aufricht, Prof. MD; Phone Number: +4314040021115; Email: christoph.aufricht@meduniwien.ac.at
• Study Contact Backup: Name: Lisa Daniel-Fischer, MD; Phone Number: +4314040021115; Email: lisa.daniel-fischer@meduniwien.ac.at

Study Locations

• Austria
  • Vienna, Austria, 1090
    • Recruiting
    • Division of Pediatric Nephrology and Gastroenterology, Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090 Vienna, Austria.
    • Contact: Lisa Daniel-Fischer, MD; Phone Number: +4314040021115; Email: lisa.daniel-fischer@meduniwien.ac.at
    • Contact: Christoph Aufricht, Prof MD; Phone Number: +4314040021115; Email: christoph.aufricht@meduniwien.ac.at
    • Principal Investigator: Christoph Aufricht, Prof. MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with nephrotic syndrome are informed about the project as part of a routine check-up and invited to participate by their treating physician. Patients are also informed verbally that there is no obligation to participate and that they can withdraw their willingness to participate at any time.

Description

Inclusion Criteria:

• Resistant to standard Immunosuppressive agents (if clinically indicated, e.g. primary/non-genetic forms)
• Persistent urinary protein-to-creatinine (UP/C) ratio >1.0 g/g
• eGFR > 30 ml/min per 1.73 m2
• biopsy or a disease-causing genetic mutation associated with nephrotic syndrome

Exclusion Criteria:

• Inability or unwillingness to comply with repeated assessments
• Objections against participation at discretion of the investigator
• Secondary
• Patients with steroid-dependence/frequently relapsing disease (but achievement of complete remission)

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
ARREST NEPHROSIS Participants	Other: Registry; Registry Participation, providing data and clinical specimen

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Obtaining real world data on practice patterns and outcomes in resistant nephrotic syndrome	up to 20 years
Enable networking between patients, families, and clinicians affected by resistant nephrotic syndrome	up to 20 years
Establish a patient base for facilitated recruitment in studies of drugs, medical devices, and products on resistant nephrotic syndrome	up to 20 years
Development of a Biobank to enable research of potential biomarkers and therapy or disease courses	up to 20 years

Collaborators and Investigators

• Sponsor: Christoph Aufricht

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2023
• Primary Completion (Estimated): December 31, 2033
• Study Completion (Estimated): December 31, 2033

Study Registration Dates

• First Submitted: November 30, 2023
• First Submitted That Met QC Criteria: November 30, 2023
• First Posted (Actual): December 8, 2023

Study Record Updates

• Last Update Posted (Actual): December 8, 2023
• Last Update Submitted That Met QC Criteria: November 30, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Kidney Diseases; Urologic Diseases; Urological Manifestations; Disease; Urination Disorders; Nephritis; Glomerulonephritis; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Syndrome; Proteinuria; Glomerulosclerosis, Focal Segmental; Nephrotic Syndrome; Nephrosis
• Other Study ID Numbers: ARREST-NEPHROSIS

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No