Pathways Summer 2019

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Opening a World of Hope Sanford Burnham Prebys’ 10th annual Rare Disease Day strengthens the global network of families, physicians and researchers to advance research for rare diseases This year marked Sanford Burnham Prebys’ 10th annual Rare Disease Day—an event that brings families living with uncommon disorders together and gives them an opportunity to meet with researchers and clinicians. The topic was rare bone disorders and bone cancers, with a special emphasis on a condition called multiple hereditary exostoses (MHE) that causes numerous bone tumors in children. Surgery and pain management are currently the only treatment options for MHE patients.

95% of rare diseases do not have FDA-approved drug treatments

Now, palovarotene, the first medicine that may be able to slow or halt this bone growth, is being tested in a clinical trial— potentially saving children with MHE from a lifetime of surgeries. Yu Yamaguchi, M.D., Ph.D., symposium chair and professor in Sanford Burnham Prebys’ Human Genetics Program, participated in key laboratory studies needed in order for the clinical trial to begin. “For the first time, a diagnosis doesn’t feel like a life sentence,” says Greta Falkner, who attended the symposium with her 8-year-old son, Jackson. He has MHE and has undergone 13 surgeries to date. “Today we have hope for a cure.” The launch of a study evaluating

palovarotene as an MHE treatment is the result of decades of hard work and collaboration among scientists, clinicians, Clementia Pharmaceuticals (now Ipsen) and the MHE Research Foundation—a patient advocacy and support group. The symposium featured an all-star lineup of distinguished speakers in the field of skeletal biology and MHE research, including keynote speaker Henry Kronenberg, M.D., of Massachusetts General Hospital and Maurizio Pacifici, Ph.D., of Children’s Hospital of Philadelphia, whose research formed the scientific rationale for the use of the drug in MHE. The event was sponsored by the MHE Research Foundation and Clementia Pharmaceuticals.