LOS ANGELES--(BUSINESS WIRE)--Breakthrough research being funded by the Orthopaedic Institute for Children (OIC) is creating new hope for children afflicted with a rare genetic disorder that turns muscle, tendons and ligaments into bone, thus constraining movement and ultimately leading to loss of mobility. For those afflicted with this deadly disease, fibrodysplasia ossificans progressiva (FOP), median age of survival is 40 years or potentially less due to delayed diagnosis, trauma and infections.
Now, however, thanks in part to the work being done by OIC researcher Karen Lyons, Ph.D., and her team, a cure or treatment could be on the horizon.
“FOP is the result of a gene mutation that causes non-bone forming cells to transform into bone-producing cells; as a result, bone forms in locations where it should not,” explained Dr. Lyons. But in a study published last year in the Journal of Bone and Mineral Research, the OIC team was able to “knock out” this gene in cartilage cells in mice and then witnessed how the mice were able to still function despite the affected cartilage development. “Our study showed that any therapy that inhibits the activity of the mutated form of the gene would probably be well tolerated in humans,” said Dr. Lyons.
For 7-year-old Sona Brinkman, those therapies cannot come soon enough. Sona was born with FOP, and recently had to give up gymnastics because any injury—even the simple bumps and bruises of childhood—can spur an FOP flare-up, a painful swelling that marks new bone development.
The extra bone that is formed cannot be removed, because any trauma, including biopsies or surgery, can cause new bone formation. For this reason early diagnosis of FOP is crucial. Most cases are managed using pain medication, anti-inflammatory drugs and injury prevention.
Sona’s parents—father, Kyle Brinkman, and mom, Dr. Aarti Brinkman, a family practitioner—are working with the International Fibrodysplasia Ossificans Progressiva Association and have established a competitive research grant program to accelerate the development of potential FOP therapies. The program offers funding for researchers focused on discovering therapies that may benefit patients in the near rather than distant future. Dr. Lyons serves as a scientific advisory board member for the program.
“This is a great example of how collaboration between a patient family, scientists and an organization like OIC can help forward the discovery of promising therapeutics for a disabling pediatric orthopaedic disease,” Dr. Lyons said.
In April the Brinkmans will join Dr. Lyons in Washington, D.C., as members of a team from the American Academy of Orthopaedic Surgeons, to appeal to lawmakers to increase funding for orthopaedic research. For the Brinkmans it’s an opportunity to raise awareness, help other patients, and move closer to a cure. “We feel there is a lot of hope and maybe even a cure possible in Sona’s lifetime,” said Kyle Brinkman.
About Orthopaedic Institute for Children
Orthopaedic Institute for Children (OIC) was founded in 1911 as Los Angeles Orthopaedic Hospital. Focused solely on musculoskeletal conditions in children, Orthopaedic Institute for Children receives 60,000 patient visits each year. In alliance with UCLA Health and with the support of the OIC Foundation, we advance pediatric orthopaedics worldwide through outstanding patient care, medical education and research. Our locations in Downtown Los Angeles, Santa Monica, Westwood and Calexico treat the full spectrum of pediatric orthopaedic disorders and injuries. For more information, visit us at ortho-institute.org.
