Attending this event?
Back To Schedule
Monday, June 20 • 1:30pm - 2:30pm
#117: The Translational Value of Animal Models in Rare Diseases

Sign up or log in to save this to your schedule, view media, leave feedback and see who's attending!

Component Type: Session
Level: Intermediate
CE: ACPE 1.00 Application UAN: 0286-0000-22-518-L04-P ; CME 1.00; RN 1.00

Many disease-specific animal models have been used to test emergent medicines for rare diseases. Appropriate animal models, based on the knowledge of the molecular pathology of the human disease, are a significant element to support the medical plausibility of an orphan designation during the development of orphan medicines for these rare diseases. There is a body of evidence, however, that there is a substantial difficulty in choosing/accessing an optimal model or choosing measurements which would be truly informative of the product’s efficacy. We intend to present a critical revision of preclinical models that may be used to support orphan drug designations in rare infectious and neurologic diseases, which are validated for each disease and to evaluate assays pertinent to the core features of selected diseases or otherwise relevant from the clinical standpoint. The analysis will help identify models with best predictive value as well as those acceptable based on their face value, highlighting the areas of most unmet need where development of better preclinical tools is necessary. We will present also results from a study that has investigated the nature of data submitted to the Committee Orphan Medicines to support medical plausibility of orphan designations for a group of rare and paediatric neurological diseases, where the use of in vivo nonclinical data was significantly higher than clinical data. We will explore the data for several case studies and discuss the importance of the availability and publication of this information in encouraging sponsors to develop innovative medicines in rare infectious and neurologic conditions. Nonclinical appropriate models, assessing disease relevant endpoints, may contribute to increase the translational value of animal models in rare diseases, to accelerate research and the effective development of treatment options.

Learning Objectives

Discuss the importance and value of nonclinical efficacy animal models in rare diseases (neurological and infectious); Apply real-world experience from available historical data to the development strategy using animal models of disease towards an increase into the translational value of these models in drug development for rare diseases.


Martine Zimmermann, PharmD


The Translational Value of Animal Models in Rare Disease: Regulator View
Dinah Duarte, MSc

Perspectives on Evaluating New Tools for Regulatory Use: Organ on a Chip Technology
Donna L. Mendrick, PhD

The Translational Value of Animal Models in Rare Diseases: Sponsor's Perspective
Melissa Haskell, DVM

avatar for Martine Zimmermann

Martine Zimmermann

Senior Vice President, Head of Global Regulatory Affairs, R&D and Commercial Qua, Alexion, Astrazeneca Rare Disease, Switzerland
Martine Zimmermann is Senior Vice President and Head of Regulatory Affairs, R&D & Commercial Quality at Alexion, AstraZeneca Rare Disease. Dr Zimmermann has over 25 years of combined R&D and global regulatory strategy experience. She joined Alexion in 2009 and has since then been... Read More →
avatar for Dinah Duarte

Dinah Duarte

Scientific Evaluation Unit, Directorate of Medicinal Products, INFARMED, Portugal
Dr. Dinah Duarte is a senior assessor at the Scientific Evaluation Unit at the Directorate of Medicinal Products, in the Portuguese regulatory authority for medicines and health products (INFARMED). She is an expert member at the European Medicines Agency (EMA); the current Committee... Read More →

Melissa Haskell

Executive Director, Non-Clinical Toxicology, Alexion, AstraZeneca Rare Disease, United States
Dr. Melissa Haskell is the Head of Non-Clinical Toxicology and Attending Veterinarian at Alexion Pharmaceuticals in Boston, MA. She has been at Alexion since 2012, where she leads a team working to develop both large and small molecules. She has extensive experience in animal model... Read More →
avatar for Donna Mendrick

Donna Mendrick

Associate Director for Regulatory Affairs, NCTR, FDA, United States
Dr. Donna L. Mendrick is the Associate Director of Regulatory Activities at the National Center for Toxicological Research (NCTR) and serves as the liaison between NCTR and the regulatory centers at the FDA. Her FDA wide committee assignments include Chairing the Emerging Sciences... Read More →

Monday June 20, 2022 1:30pm - 2:30pm CDT
Room 183 C McCormick Place 2301 South Indiana Avenue Gate 40 Chicago, IL 60616
  06: PreClinical Dev-EarlyPhaseCR, Session |   11: Statistics, Session