The Development of Rare Disease Therapeutics: Compassion and Transparency

Quick Overview

Dr. Emil Kakkis, CEO of Ultragenyx, spoke at the 2022 FAST Science Summit about the development of rare disease therapeutics, focusing on compassion and transparency. He shared his personal journey in drug development, starting with a single patient and family, and emphasized the importance of connecting with families and being transparent in the development process. Dr. Kakkis discussed the unique challenges of rare diseases, such as the complexity and uncertainty involved, and the need for a closer connection and transparency in drug development. He also highlighted the importance of compassion access, sharing examples of how compassionate use can make a difference in the lives of patients. Dr. Kakkis then provided an update on Ultragenyx’s Angelman syndrome program, discussing the ongoing clinical trials and the promising results seen so far. He emphasized the need for further research and the importance of ensuring safety and efficacy before moving forward. Dr. Kakkis expressed gratitude to the families, investigators, and his team for their support and commitment to rare disease therapeutics.

Introduction

In this talk, we will discuss the development of rare disease therapeutics, with a focus on the importance of compassion and transparency. The author, Dr. Emil Kakkis, CEO of Ultragenyx, shares his insights and experiences in the field of drug development for rare diseases. He emphasizes the need for a different approach in clinical trials for rare diseases and the importance of maintaining a compassionate and transparent relationship with patients and their families.

The Importance of Compassion and Transparency

Dr. Kakkis begins by highlighting the personal connection he has with rare diseases, starting his career with a single patient and a single family. He emphasizes the impact that rare diseases have on patients’ lives and the need for a deeper connection and transparency in drug development for these complex and devastating disorders.

He acknowledges that drug development for rare diseases is different from common diseases, as the diseases are less understood, highly specific, and often have a significant impact on patients’ lives. He emphasizes the importance of managing drug development differently in rare diseases and working collaboratively with patients and their families to navigate the uncertainties and challenges that arise during the process.

Dr. Kakkis also discusses the debate between objectivity and transparency in clinical trials for rare diseases. He argues that patients and their families should be engaged and informed about the progress of the trial, as they are deeply connected to the outcome and can provide valuable insights. He shares examples from his own experience, where open-label trials and transparency have led to objective assessments and successful drug development.

Case Studies: Angelman Syndrome and Other Rare Diseases

Dr. Kakkis then transitions to discussing the development of therapeutics for Angelman Syndrome, a rare neurodevelopmental disorder. He presents data from the ongoing clinical trial of GTX-102, an antisense oligonucleotide, highlighting the positive effects observed in patients. He emphasizes that while the data is encouraging, the trial is still ongoing, and the drug is investigational.

He also addresses the issue of compassionate use in rare diseases, explaining that while it was not planned for Angelman Syndrome, there are situations where compassionate use may be necessary. He shares examples from his own experience, where compassionate use has been crucial in providing treatment to critically ill patients who were unable to participate in clinical trials.

Dr. Kakkis concludes by expressing his gratitude to the patients, families, investigators, and his team for their contributions to the development of rare disease therapeutics. He emphasizes the importance of continued research and collaboration to improve the lives of patients with rare diseases.

Conclusion

The development of therapeutics for rare diseases requires a different approach, characterized by compassion and transparency. Dr. Kakkis emphasizes the need for a deeper connection with patients and their families, as well as the importance of being transparent about the progress of clinical trials. He shares case studies from his own experience, highlighting the positive impact of open-label trials and compassionate use in rare diseases. Overall, Dr. Kakkis advocates for a collaborative and patient-centered approach to drug development for rare diseases.