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Perspectives on Clinical Outcomes for N=1 Patients: Insights from N1C Clinical Outcomes Workgroup

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.

Content from seminar:

Download PDF • 3.07MB

MDRI for Nof1
Download PPTX • 6.06MB

Tandon and Kakkis 2021 MDRI
Download PDF • 1.72MB

Related content:

FDA Biomarker qualification guidance draft 2018[23]
Download PDF • 354KB

FDA Biomarker _BEST_2020[1]
Download PDF • 812KB



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