Improving the Regulatory Process and Advancing Regulatory Science for Rare Disease Therapies

Quick Overview

Dr. Emil Kakkis, CEO of Ultragenyx Pharmaceuticals, spoke at the 2019 FAST Science Summit about improving the regulatory process and advancing regulatory science for rare disease therapies. He discussed the challenges of developing treatments for rare diseases, including the complexity of the diseases and the need for multiple endpoints to measure efficacy. Dr. Kakkis also highlighted the importance of collaboration between all stakeholders, including patients, researchers, and regulatory agencies, to ensure the development of effective treatments. He shared the success story of a patient with mucopolysaccharidosis type 1 who was treated with enzyme replacement therapy and experienced significant improvements. Dr. Kakkis emphasized the need for continued research and participation in natural history studies and biomarker studies to further advance rare disease therapies.


In this talk, Emil Kakkis, the CEO of Ultragenyx Pharmaceuticals, discusses the progress and challenges in developing treatments for rare diseases, with a focus on Angelman Syndrome. He highlights the advancements in regulatory science and the need for collaboration among stakeholders to improve the regulatory process and bring effective therapies to patients.

The Golden Age for Rare Disease Treatment

Kakkis begins by emphasizing that we are currently in a “golden age” for rare disease treatment development. He explains that there has been a significant increase in the number of treatments being developed for rare diseases since the early 2000s. This is due to advancements in technology and the growing interest in rare diseases among researchers and pharmaceutical companies.

Kakkis shares his personal experience in developing a treatment for mucopolysaccharidosis type 1 (MPS I), a rare genetic disorder. He explains the challenges of developing a treatment for a disease that affects multiple parts of the body and the importance of patient advocacy in raising funds and supporting research.

Challenges in Rare Disease Drug Development

Kakkis acknowledges the challenges in the regulatory process for rare disease drug development. He explains that the traditional study designs, such as double-blind placebo-controlled trials, may not be suitable for diseases with variable symptoms and heterogeneity. He suggests alternative approaches, such as open-label studies with blinded assessments or the use of biomarkers, to capture the effectiveness of treatments in a more comprehensive way.

Kakkis also emphasizes the importance of measuring disease progression and treatment efficacy in multiple domains. He introduces the concept of a multi-domain responder index, which measures improvements or declines in various clinical domains. This approach allows for a more holistic assessment of treatment effectiveness and captures the individual variations in disease presentation.

The Future of Rare Disease Treatment

In conclusion, Kakkis expresses his optimism for the future of rare disease treatment. He encourages collaboration among stakeholders, including patient advocacy groups, researchers, and pharmaceutical companies, to accelerate the development of effective therapies. He shares the story of a patient with MPS I who has benefited from intrathecal therapy, highlighting the potential of innovative treatment strategies.

Kakkis emphasizes the need for continued research, collaboration, and patient participation in natural history studies and biomarker research. He believes that by working together, the rare disease community can overcome the challenges and improve the lives of patients with rare diseases.


Emil Kakkis provides valuable insights into the regulatory process and advancements in rare disease treatment development. He highlights the importance of collaboration, innovative study designs, and comprehensive assessment of treatment efficacy. Kakkis’ optimism and dedication to improving the lives of patients with rare diseases serve as an inspiration for the rare disease community.

Talk details

  • Title: Improving the regulatory process and advancing regulatory science for rare disease therapies
  • Author(s): Emil Kakkis
  • Author(s)’ affiliation: Ultragenyx Pharmaceutical
  • Publication date: 2019-12-27
  • Collection: 2019 FAST Science Summit