8:25 am Chair’s Opening Remarks

  • Manish Maski Head, Global Rare Nephrology Medical Affairs, Sanofi

Uncovering Early Biomarkers to Evaluate Therapeutic Target Engagement & Delineating Evolving Regulatory Pathways to Validation

8:30 am GFR, Albuminuria & Beyond: Paving the Way to Validation of Early Biomarkers of Disease Progression & Therapeutic Efficacy

Synopsis

  • Where are we now? Interrogating changes in GFR and albuminuria as early biomarkers and surrogate endpoints in rare and inherited renal disorders
  • Validating biomarkers in large cohort studies to deeply characterize disease etiology and progression
  • Stronger together: promoting sharing of biosamples and advancing centralized biobanks

9:00 am Moving Beyond Diagnosis Based on Histopathology: Assessing Molecular Characteristics to Reclassify Disease Subtypes

Synopsis

  • Performing biomarker studies to assess response to treatment
  • Identifying and selecting patients based on biomarkers
  • Molecular characteristics replacing or complementing histological diagnosis

9:30 am Regulatory Perspective on Endpoint Development: How is the Regulatory Landscape Evolving with Advances in Research?

  • Aliza Thompson Deputy Director of the Division of Cardiology & Nephrology, FDA

Synopsis

  • Establishing a clinical pathway to correlate promising biomarkers with clinical outcome
  • Advancing understanding of efficacy with the endpoints we already have
  • Evaluating the regulatory landscape for paediatric and ultra-rare clinical studies and driving diversity in clinical trials

10:00 am In Person Structured Networking

10:30 am Morning Break & Networking

11:30 am Panel Discussion: Navigating Earlier Endpoint Development to Predict Clinical Outcome in Shorter Clinical Trials

  • Aliza Thompson Deputy Director of the Division of Cardiology & Nephrology, FDA
  • Edwin Tucker Chief Medical Officer, Goldfinch Bio
  • Manish Maski Head, Global Rare Nephrology Medical Affairs, Sanofi
  • Scott Rottinghaus Vice President & Head of Clinical Development, Hematology & Nephrology, Alexion Pharmaceuticals

Synopsis

  • Can we move towards harmonizing global regulatory endpoints?
  • Non-invasive imaging, patient-reported outcomes, albuminuria and UACR: driving progress in elevating alternative outcome measures
  • Can we incorporate patient reported outcomes in symptomatic kidney diseases?

12:00 pm Lunch & Networking

Mice are Not Men: Recapitulating Genetic Mutations in Preclinical Models to Interrogate Mechansims & Screen Targets

1:00 pm Building a Platform of Complementary Experimental Systems to Elucidate Disease Pathogenesis in Genetically Driven Disorders

  • Rachel Lennon Professor of Nephrology, Director of the Wellcome Centre for Cell-Matrix Research, University of Manchester

Synopsis

  • Identifying appropriate experimental systems for preclinical studies
  • Investigating basement membrane biology and pathobiology
  • Therapeutic approaches to preserving basement membrane function

1:30 pm Panel Discussion: What is the Future of Preclinical Models in Genetically Driven Renal Disorders? Elucidating Disease Mechanisms & Navigating the Translational Gap

  • Benjamin Humphreys Joseph Friedman Professor of Renal Diseases in Medicine & Chief, Division of Nephrology, Washington University
  • Rachel Lennon Professor of Nephrology, Director of the Wellcome Centre for Cell-Matrix Research, University of Manchester
  • Anna Greka Institute Member, Director of the Kidney Disease Initiative, Broad Institute of MIT & Harvard

Synopsis

  • What is the best platform to mimic human physiology and tailor models with disease specific mutations?
  • From genetically modified mice to pluripotent stem cell-derived organoids: evaluating current capabilities to investigate disease mechanisms and screen novel therapeutics
  • Is mass production of organoids the future of predicting efficacy or an additional tool?

Clarifying the Molecular Composition of Disease Sub-Types with Proteomics & Transcriptomics to Understand Functional Impact of Genetic Variants

2:00 pm Genes to Treatments: The Arc of Discovery for Kidney Diseases

  • Anna Greka Institute Member, Director of the Kidney Disease Initiative, Broad Institute of MIT & Harvard

Synopsis

  • What are the fundamental mechanisms that regulate the trafficking and degradation of misfolded protein cargoes?
  • How can we harness next-generation technologies to develop treatments and cures for genetically-defined diseases?

2:30 pm Afternoon Break & Networking

3:30 pm Employing Single-Cell Transcriptomic Analysis to Characterize Cell Types & Forge a Deeper Understanding of the Genetic Drivers of Disease

  • Matt Sampson Associate Professor of Pediatrics, Harvard Medical School

Synopsis

  • Leveraging advances in single-cell sequencing technologies to elucidate pathophysiology of genetic renal diseases
  • Overcoming bottlenecks in single-cell sequencing: analysing large datasets
  • Moving beyond targeting pathological diagnosis: translating new understandings of underlying pathophysiology to target the specific causative agent

4:00 pm APRIL: Normal Physiological Functions & its Pathological Role in IgAN

Synopsis

  • Physiological role of B Cell growth factors – APRIL and BAFF
  • Examining the role of APRIL in IgA Nephropathy
  • Considering rationale for inhibiting APRIL in IgA Nephropathy

4:30 pm Chair’s Closing Remarks

  • Manish Maski Head, Global Rare Nephrology Medical Affairs, Sanofi

4:40 pm Scientific Poster Session

Synopsis

After the formal presentations have finished, the learning and networking carries on. The Poster Session allows you to connect with your peers in a relaxed atmosphere and continue to forge new and existing relationships. During this session scientific posters will be presented on the very latest advancements in
drug development for rare and inherited renal disorders with a focus on better understanding and overcoming translational challenges to inform the direction of drug development for rare and genetic kidney diseases.