Regeneron scientists score rare disease breakthrough with excess bone growth discovery
- Scientists at Regeneron have discovered a treatment that could stop hyperactive bone growth in people with Fibrodysplasia Ossificans Progressiva (FOP).
- FOP is caused by a genetic mutation in which the protein Activin-A, which normally blocks bone growth, triggers hyeractive bone growth. As a result, muscle and soft tissue are gradually replaced by bone, resulting in the formation of an extra skeleton that eventually paralyzes and suffocates the affected patient.
- The specific approach taken by Regeneron scientists was to develop a therapeutic antibody to block Activin-A. They injected it into genetically modified mice and found that it averted excess bone growth for six weeks.
FOP is truly a rare disease. All told, it affects 800 people globally, including roughly 200 people in the U.S. It is a devastating way to live, and to die, and Regeneron's scientists may have uncovered a way to modify the course of the disease.
The research was headed up by scientists under the leadership of Aris Economides, executive director of skeletal diseases and co-founder of the Regeneron Genetics Center, and the results have been published in the journal Science Translational Medicine.
The response from the FOP advocacy community has been enthusiastic, if not somewhat cautious. Betsy Bogard, director of global research development for the International FOP Association and the sister of an FOP patient, expressed her excitement about the breakthrough, but also noted that drug development is a hard, long, arduous slog of a journey.
For patients' sakes, let's hope Regeneron is able to expedite the journey of a successful FOP treament from bench to bedside as quickly as possible.