Perspectives on Clinical Outcomes for N=1 Patients: Insights from N1C Clinical Outcomes Workgroup
- N1C Moderator
- May 23, 2023
- 2 min read
Updated: Apr 30, 2024
June 5, 2023 12:30-1:30 pm US EDT
We will discuss the paradigm shift required to design suitable clinical outcomes for N=1 patients. The presentation will explore three key categories of outcome measures: clinically relevant measures, biomarkers, and patient-reported outcome measures. Case studies will be referenced to illustrate the integration of these measures and their impact on patient care.
A medical geneticist by training, Dr. Kakkis is currently founder and CEO at Ultragenyx, a
biopharmaceutical company developing novel products for the treatment of rare and
ultra-rare diseases. The company was founded in 2010 and went public in 2014, and has developed three approved therapies (Crysvita, Mepsevii, and Dojolvi) and now holds ex-US rights to a fourth approved product (Evkeeza), and a deep pipeline of potential treatments across a variety of therapeutic modalities including gene therapy, mRNA therapy, biologics, and small molecule.
Dr. Kakkis was trained in the Medical Scientist Training Program (MSTP) at UCLA before
Pediatrics residency and Medical Genetic Fellowship at Harbor-UCLA. He spent 5 years
as an assistant professor in Pediatrics at Harbor-UCLA Medical Center before leaving
academia to join BioMarin in 1998. Dr. Kakkis guided and contributed to the
development of seven approved rare disease products ultimately as chief medical
officer at BioMarin Pharmaceutical until 2009. Dr. Kakkis also founded and serves on the
Board of EveryLife Foundation for Rare Diseases, a non-profit dedicated to accelerating
innovation for rare diseases and has been active in policy and workshops advocating for
improvements in the development and regulation of rare disease therapeutics. Dr.
Kakkis has been recognized for his leadership by Biotechnology Innovation Organization
(BIO), the National MPS Society, WORLDSymposium, and California Life Sciences.
Dr. Finkel is the Director, Experimental Neuroscience Program at St. Jude Children's Research Hospital. Finkel has also served as chief of neurology at Nemours Children's Hospital in Orlando and is a professor of neurology at the University of Central Florida College of Medicine. He joined the St. Jude faculty March 16, 2020. Finkel will also have privileges at Memphis‐based Le Bonheur Children's Hospital and will have an adjunct faculty appointment in the Department of Pediatrics at the University of Tennessee Health Science Center. The three organizations will partner in the creation of a Neuroscience Research Consortium investigating treatments for children with devastating neuromuscular diseases.
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