9:20 am Chair’s Opening Remarks

  • Mark Kiel Chief Science Officer & Co- Founder, Genomenon

Demonstrating the Clinical Utility of Biomarkers

9:30 am Patient Identification for Clinical Trials – The Case of HLA & Antigen-Specific Immunotherapy in Type 1 Diabetes

  • Ulf Hannelius President & Chief Executive Officer, Diamyd Medical

Synopsis

• Retrospective and prospective clinical data show that individuals carrying HLA variants associated with autoimmunity against GAD (glutamic acid decarboxylase) respond to GAD-specific immunotherapy, supporting the notion of precision medicine in Type 1 diabetes
• By prescreening for the presence of HLA DR3-DQ2, the HLA haplotype associated with GAD-specific autoimmunity, individuals that have a high likelihood of responding to GAD-specific immunotherapy can be selected for clinical trials
• This approach is now being evaluated in a confirmatory Phase III trial in Europe and the United States

10:00 am Using Longitudinal Data to Understand How a Biomarker Behaves

  • Peter Bialek Head of Translational Biology, Triplet Therapeutics

Synopsis

• Design and execution of a natural history study to obtain a more holistic picture of disease
• Avoiding bias, by investigating possible prognostic, stratification, disease relevant biomarkers as part of a study
• Measuring target engagement in accessible biofluids, particularly using information from CSF exosomes, to collect evidence for pharmacological effect

10:30 am Rare & Precious: Strategic Collection & Use of Clinical Samples The largest currently available natural history study in Huntington’s disease illustrates key motivations, concepts, and considerations in building and using clinical sample collection to drive research in rare diseases:

Synopsis

The largest currently available natural history study in Huntington’s
disease illustrates key motivations, concepts, and considerations
in building and using a clinical sample collection to drive research
in rare diseases:

• Collection strategies for rare disease clinical samples
• Coordination of clinical sample use
• Collaboration and harmonization multiply impact

11:00 am Group Networking: Demonstrating the Clinical Utility of Biomarkers

Therapy Efficacy Demonstration in Preparation for Regulatory Filing

12:00 pm Quantitative Approaches to Advancing Endpoint Development – With a Specific Focus on Cognition

Synopsis

• How best to identify endpoint targets for clinical trials from a quantitative perspective and optimize biomarkers & endpoints through digital technologies, imaging and patient reported outcomes to develop aggregated targets showing how different endpoints can co-vary
• The potential for the approach to identify aggregated outcomes in the psychiatry be used in other disease areas and be transdiagnostic
• Optimizing the translatable value of pre-clinical disease models to move towards human studies

12:30 pm Panel Discussion: Navigating Rare Disease Drug Development Regulation Pathways

  • Eline Appelmans Director of Neuroscience Research Partnerships, Foundation for the National Institutes of Health
  • Peter Bialek Head of Translational Biology, Triplet Therapeutics
  • Domenico Merante Global Clinical Development TA Lead Nephrology & Orphan Disease Area, Vifor Pharma
  • Mark Kiel Chief Science Officer & Co- Founder, Genomenon

Synopsis

• With regulatory paths there is not a ‘one size fits all’ approach in rare disease, how can current pathways guide study planning across indications?
• What expertise is needed to plan for regulatory filing?
• How can CDx planning begin earlier when required for drug approval?

1:15 pm Networking Lunch

Detecting & Diagnosing Disease Early With Emerging Techniques & Technologies

2:00 pm Diagnosing Rare Disease & Identifying Drug Targets at Earlier Time Points

  • Stephen Kingsmore President & Chief Executive Officer, Rady Children’s Institute for Genomic Medicine

Synopsis

• Rapid precision care incorporating full genome sequencing to detect rare genetic diseases early for critically ill children
• Moving towards designing drug development programs through data collection to support endpoint definition and response to current therapies
• Steps towards screening for disease to identify potential drug targets

2:30 pm Panel Discussion: Choosing the Right Technology for Your Biomarker Investigations

  • Yan Ni Executive Director of Biomarkers & Precision Medicine, Passage Bio
  • Robert Neusner Global Strategy Director, Precision Medicine, Johnson & Johnson
  • Anka G. Ehrhardt Director Clinical Research, CHDI Foundation
  • Katherine Call Former Senior Director, Head of Proteogenomics, Sanofi Genzyme
  • Jaydira Del Rivero MD, National Cancer Institute, NIH

Synopsis

• What technologies are appropriate for the different aspects of biomarker development?
• How can technology assessment contribute to a more accelerated diagnostic algorithm?
• Industry recommendations for overcoming sensitivity and selectivity biomarker detection challenges – What does it mean if you don’t pick up a marker? • How can cost be minimized with the design of more meaningful development programs for biomarkers?
• Commercial and practical implications of biomarker technologies
• Specific challenges for biomarker studies in rare disease clinical trials

3:15 pm Enhancing Rare Disease Diagnosis Through Genome Sequencing and Genetics

  • Tom Defay Deputy Head Diagnostics Strategy and Development, Alexion, AstraZeneca Rare Disease

Synopsis

• Advances in widescale characterization of variants of uncertain significance
• Impact of whole genome sequencing on rare disease diagnosis
• Impact across a set of Rare Diseases

3:45 pm Chair’s Closing Remarks, End of Day Two & Networking

  • Mark Kiel Chief Science Officer & Co- Founder, Genomenon

Synopsis

We hope you enjoyed this year’s Biomarkers for Rare Disease Summit