Keynote: Using Biomarkers to Accelerate Development of Disease Modifying Therapies for Rare Disease

Tuesday, May 14, 2024

1:00 PM – 2:00 PM PT

Location:Plaza A

Keynote Speaker(s)

Emil Kakkis, MD, PhD (he/him/his)

Chief Executive Officer and President
Ultragenyx
Novato, California

Moderator(s)

Karen Quadrini, PhD

Director, Clinical Biomarkers
Prothena Biosciences, Pennsylvania

The advent of precision medicines that enable the treatment of previously impossible diseases has opened the door to transformative therapies but for many ultra-rare diseases, the inability to use a biomarker endpoint will likely make treatment unattainable. Dr Kakkis will describe these challenges and solutions to understanding how to modernize drug development to the 21st century. The intrinsic biology of primary disease activity biomarkers as representative of the underlying cause of disease will enable and optimize the development of many more treatments for ultra-rare diseases and usher in a new era of advanced therapeutics for some of the worst genetic diseases.

Learning Objectives:

Be able to describe primary disease activity biomarkers as specific biomarkers that measure the underlying source or cause for a genetic disease and can be used in measuring treatment efficacy for therapies targeting the underlying cause of disease.
Be able to descirbe the challenges in quailfying biomarkers to be used in therapeutic trials for use in the accelerated approval pathway and how these challenges are magnified for first-ever treatments in ultra-rare diseases
Be able to descirbe the basis for why primary disease actiivty biomarkers represent a more accurate measure of disease than clinicall outcomes and constitute a direct measure of disease for which in a car analogy might be equivalent to measuring the broken brakes on car rather than measuring the much more variable car crashes, the outcome of broken brakes.
Be able to appreciate the particular challenges of the ultra-rare diseases and their variability and extremely small numbers and how this affects clinical development, while also appreciating the tremendouis opportunity to transform previously untreatable diseases with new precision medicines.