Novel Individualized Therapeutics: Challenges and Opportunities for the Use of Real-World Evidence in Rare Diseases

Background: Individualized therapeutics are becoming more prevalent, with the first to use CRISPR approved in 2023. Children account for an outsized number of potential recipients of these therapies. There are unique regulatory and methodological considerations to using real-world evidence (RWE) to evaluate these novel medications in rare diseases.

Objectives: This symposium, organized by the Rare Disease and Pediatric Special Interest Groups, will (1) provide an overview of novel individualized therapies, (2) review specific regulatory considerations, and (3) identify unique opportunities and challenges in studying the safety and effectiveness of these medicines using real-world data.

Description: Moderators:

Timothy Savage, MD, MPH, MSc, Pediatric SIG Secretary and faculty member at Brigham and Women’s Hospital

Julien Heidt, MPH, Rare Diseases SIG Secretary, Senior Consultant Epidemiologist at IQVIA

First presentation (15 minutes): Dr. Tara MacCannell, PhD, Global Head and Executive Director, Real-World Evidence, Vertex
Dr. MacCannell will review EMA and FDA approved therapeutics and a sampling of products in development, highlighting evidence gaps where RWE could play an important role.

Takeaway: understand the current and future landscape of novel individualized therapeutics.

Second presentation (15 minutes): Dr. Jie “Jenni” Li, PhD, Rare Diseases SIG Vice Chair at ISPE and Associate Director for Real-World Evidence at Office of Surveillance and Epidemiology, CDER, FDA
Dr. Li will discuss current guidance and regulatory considerations for novel individualized therapeutics. Key aspects of the drug development programs will be discussed.

Takeaway: understand regulatory perspectives on novel individualized therapeutics.

Third presentation (15 minutes): Dr. Daniel Rosenberg, PhD, MPH, Rare Diseases SIG Chair and Senior Director, Global Epidemiology at Johnson and Johnson
Dr. Rosenberg will present on pre-approval study design and data considerations include identifying fit-for-purpose data sources with sufficient quality to meet regulatory objectives. The role of historical and/or concurrent controls in comparison to single arm trials will be discussed.

Takeaway:individualized therapeutics/rare diseases have unique pre-approval evidence considerations.

Fourth presentation (15 minutes): Dr. Delphine Saragoussi, MD, MSCPH, Executive Director, RWE at PPD, part of Thermo Fisher Scientific
Dr. Saragoussi will address post-approval study designs including methodologic approaches to account for heterogeneity of the individualized therapies.

Takeaway: post-approval monitoring of individualized therapies require unique considerations.

Moderated Panel discussion with all speakers. (20 minutes)