FDA Clears Rare Neurological Disease Model for Commercial Research Use


FDA exercises enforcement discretion regarding its ExeGen ATM MiniSwine model, clearing the genetically engineered (GE) to model ataxia telangiectasia (AT) for commercial use as a research tool.

This morning, Exemplar Genetics announced that the US Food and Drug Administration (FDA) has exercised enforcement discretion regarding its ExeGen ATM MiniSwine model, clearing the genetically engineered (GE) to model ataxia telangiectasia (AT) for commercial use as a research tool.

In AT, an inherited and predominantly neurological rare disease, the multisystemic disorder is caused by mutations in the ataxia telangiectasia mutated gene (ATM). Fertility problems, thymic atrophy/hypoplasia, tumor development (mainly lymphoid organs), and immunological deficiencies are additional disease manifestations that can occur. Currently, no cure exists for AT, and treatment is limited to management of symptoms.

As a larger animal model, ExeGen ATM MiniSwine’s design enables it to conduct superior translational research and better predictive efficacy, like the low-density lipoprotein receptor (LDLR) MiniSwine model for cardiovascular disease research before it, in an effort to define disease mechanisms and develop novel therapeutics that address the pathologies of AT. Researchers and developers will now be offered Exemplar's powerful investigational platform as a result of the approval.

Jill Weimer, PhD, Senior Director of Therapeutic Development for Sanford Research, explained the significance of the FDA’s enforcement discretion. “The ExeGen ATM MiniSwine model has allowed us to study the disease in much greater depth than what was possible before. Through these discoveries, we hope to improve our understanding of the underlying mechanisms of this disease and develop better methods to treat it."1

Since Exemplar's GE MiniSwine research models are more anatomically, physiologically, and genetically similar to humans than mice and other small-animal disease models, they are engineered to provide improved predictive power to the preclinical stages of therapeutic development. While small animal models have been and continue to be used extensively in both disease research and therapeutic development, their failure to fully reproduce the human disease condition maintains a significant barrier to defining disease mechanisms and inhibits safe and efficacious therapeutics and diagnostic tools.

John R. Swart, PhD, President and Chief Executive Officer of Exemplar Genetics, emphasized the need for more research like the kind offered by ExeGen ATM MiniSwine. “The orphan disease research community remains in desperate need of better models to advance potential treatments. The ExeGen ATM MiniSwine model represents the first of several models we have developed to enable the advancement of those therapies. This approval should expand access to our AT model significantly."

Failure rates of 80% for therapeutic development programs prove the need for more predictive and better research tools, but Exemplar’s ExeGen LDLR MiniSwine model holds potential for providing breakthroughs in these areas.

For more data from studies pertaining to the rare disease community, follow Rare Disease Report on Facebook and Twitter.


  1. Exemplar Genetics Rare Neurological Disease Model Cleared by FDA for Commercial Research Use. Prnewswire.com. https://www.prnewswire.com/news-releases/exemplar-genetics-rare-neurological-disease-model-cleared-by-fda-for-commercial-research-use-300630039.html . Accessed April 16, 2018.
Recent Videos
Signs and Symptoms of Connective Tissue Disease
How to Adequately Screen for and Treat Cognitive Decline in Primary Care
James R. Kilgore, DMSc, PhD, PA-C: Cognitive Decline Diagnostics
Stephanie Nahas, MD, MSEd | Credit: Jefferson Health
How Gene and Cell Therapy Is Developing in Dermatology
Joyce Teng, MD, PhD, discusses how therapeutic advances in fields like epidermolysis bullosa should progress treatment discourse in other rare dermatoses.
The Prospect of Pz-cel in RDEB Treatment, with Peter Marinkovich, MD
Comparing New Therapies for Dystrophic Epidermolysis Bullosa
Reviewing 2023 with FDA Commissioner Robert M. Califf, MD
Dunia Hatabah, MD | Image Credit: HCPLive
© 2024 MJH Life Sciences

All rights reserved.