UNMC researcher studies bone diseases

picture disc.UNMC is quickly becoming a national center for Osteogenesis Imperfecta (OI), thanks to Horacio Plotkin, M.D., who joined the Munroe-Meyer Institute’s department of inherited metabolic diseases several months ago. Dr. Plotkin’s level of expertise in OI (often known as “brittle bone disease”) and other pediatric bone diseases is not only unique to Omaha, but to other American cities.

Originally from Argentina where he was trained in pediatric endocrinology, Dr. Plotkin, who also serves as assistant professor in UNMC’s department of pediatrics, spent time doing clinical research at Yale University and then McGill University in Montreal, working with a group of drugs called biophosphonates. In his clinical trials he focuses on developing a treatment for this incurable disease and improving the quality of life of those who have it, by determining drug dosages that will make bones stronger.

What is OI?

OI is genetic and sometimes hard to diagnose. It shows up in infancy or childhood and affects all the bones of the body, causing them to fracture in many places — and often. The severity of the disease varies from patient to patient. In some cases, breaks are so frequent and spontaneous that the patient is left wheelchair-bound for safety’s sake. OI also can be deadly as it causes ribs to break spontaneously, puncturing the lungs — or the spine to unexpectedly break. Interestingly, people with OI are often brighter than average, unlike those with many other genetic disorders. Though OI is incurable, patients sometimes improve with age.

Helping children

Dr. Plotkin currently sees infants and children in a clinic, which he shares with MMI’s William Rizzo, M.D., in the Hobart Wiltse Center for Metabolic Diseases at Children’s Hospital. Social service agencies or pediatricians refer patients to him in hopes of learning whether fractures are the result of child abuse or OI. Other patients are referred to him for various forms of osteoporosis. In any case, his focus is to evaluate and develop courses of therapy.

Founded “Tiny Bones” program

Dr. Plotkin was one of the first to use drugs on OI patients that, until that point, had been used to treat osteoporosis in menopausal women. He has used such drugs on children for six years and his studies are ongoing. In the near future he’ll do clinical trials, sponsored by various pharmaceutical companies, with infants and children in his clinic as well as with adults at MMI. For those who wish to help children with OI, Dr. Plotkin has started a fund-raising program at UNMC called “Tiny Bones.”