Findings from the Resilient Patient Project Published Online in the Journal of Bone & Mineral Research

On February 16, 2024, the Journal of Bone and Mineral Research (a peer-reviewed journal) posted the accepted manuscript "MMP-9 deficiency confers resilience in fibrodysplasia ossificans progressiva in a man and mice." Once you've clicked the link above, click the PDF icon to access the full manuscript.

Researchers at the University of Pennsylvania; Texas A & M University; University of California, San Francisco; āshibio Inc; Charité - University Hospital Berlin; and Mayo Clinic College of Medicine describe how the decreased activity of an inflammatory protein called matrix metalloproteinase-9 (MMP-9) in an individual (patient-R) with a confirmed ACVR1R206H mutation, led to 35 years with substantially decreased unwanted bone and disability.

Their conclusion, supported by laboratory findings where fibrodysplasia ossificans progressiva (FOP) mouse models unable to make MMP-9, do not form extra bone, and MMP-9 inhibitors inhibit extra bone from forming in FOP mice with MMP-9, is a fascinating and potential game-changing discovery. It is important to note that MMP-9 inhibitors have not been tested in people diagnosed with FOP. The study of patient-R and the resulting studies in mice "reveal critical molecular mechanisms of disease that unveil potential new treatment strategies."

A brief lay summary is available on page eight of the manuscript. We are grateful to patient-R and the researchers who have spent many years studying patient-R's extreme lack of heterotopic ossification (HO) and nearly normal mobility.

Corresponding Author: Frederick S. Kaplan, MD

Additional Authors:
Vitali Lounev, PhD
Jay C. Groppe, PhD
Niambi Brewer, PhD
Kelly L. Wentworth, MD
Victoria Smith, PhD
Meiqi Xu, BS
Lutz Schomburg, PhD
Pankaj Bhargava, MD
Mona Al Mukaddam, MD
Edward C. Hsiao, MD, PhD
Eileen M. Shore, PhD
Robert J. Pignolo MD, PhD

Thank you to the Journal of Bone & Mineral Research and Oxford University Press for making this manuscript "Free to Read," an important service to the FOP community.

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Findings from the Resilient Patient Project Published Online in the Journal of Bone & Mineral Research

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