Insights and ongoing efforts from Of Mice and Measures, a collaborative project to improve preclinical methodology in Duchenne muscular dystrophy


Topic:

Preclinical Trial Design & Biomarker Development

Poster Number: 146

Author(s):

Laura Dalle Pazze, Annemieke Aartsma-Rus, PhD, Annamaria De Luca, PhD, Melanie L. Leitner, PhD, Paola Mantuano, PhD, Kanneboyina Nagaraju, PhD, DVM, Melissa Spencer, PhD, Maaike van Putten, PhD, Heather Gordish-Dressman, PhD

Institutions:

1. Charley's Fund, 2. Department of Human Genetics, Leiden University Medical Center, the Netherlands, 3. Unit of Pharmacology, Department of Pharmacy and Drug Sciences, University of Bari Aldo Moro, Italy, 4. Accelerating NeuroVentures, LLC, 5. Unit of Pharmacology, Department of Pharmacy and Drug Sciences, University of Bari Aldo Moro, Italy, 6. School of Pharmacy and Pharmaceutical Sciences, Binghamton University, USA, 7. Molecular Biology Institute, Department of Neurology, Center for Duchenne Muscular Dystrophy at UCLA, 8. Department of Human Genetics, Leiden University Medical Center, the Netherlands, 9. Children's National Medical Center, USA

Background:
Optimizing preclinical tools and methods to evaluate therapeutic candidates is critical to improve decision-making about advancing therapies to clinical testing. In 2016, in collaboration with leading experts in the neuromuscular community, Charley’s Fund, a patient-founded research nonprofit, launched an effort to address a timely topic of this nature: how to utilize a promising newer mouse model, the D2.B10-Dmdmdx/J (D2/mdx), speculated to recapitulate human pathology better than the commonly used C57BL/10ScSn-Dmdmdx/J (Bl10/mdx).

Objective:
Identify and act on opportunities to improve DMD preclinical best practices through a collaborative, data-driven, multi-stakeholder approach.

Approach:
Working groups collected and analyzed D2/mdx and Bl10/mdx data from multiple academic and industry sources. Nearly 18,000 data points on mutant and WT strains were gathered spanning 10 labs worldwide. 22 organizations across academia, nonprofits, and industry convened to review and discuss. A workshop report highlighted initial findings and opportunities.

Results:
In addition to identifying best practices and data gaps in the two models, the cross-lab data comparison identified notable differences in practices and results, even in labs of leading experts. First, no single outcome was assessed across all 10 labs. Most commonly assessed was body weight in 6 labs, followed by serum creatine kinase in 5. Second, labs often used different protocols for the same measure, with assessments for muscle performance in particular yielding variable outcomes. Third, inconsistencies existed in control arm design and use of vehicle, sham, and untreated mice.

To address these opportunities for improved consistency, quality, and coordination in DMD preclinical research: 1) a workshop report published preliminary findings, and 2) a well-powered 52-wk natural history study informed by the workshop results has been designed and funded to run in parallel in two leading DMD labs.