How a Columbia Neurologist Is Changing the Outlook for Children with a Devastating Muscle Disease

Michio Hirano, MD, chief of the Department of Neurology Division of Neuromuscular Medicine and director of the Muscular Dystrophy Association Clinic at Columbia University Irving Medical Center, led the development of a drug recently approved by the FDA to treat thymidine kinase 2 deficiency (TK2d), a rare inherited disorder that causes progressive muscle weakness and is often fatal in childhood.

In 2012, Arthur and Olga Estopiñan’s infant son, Arturito, was diagnosed with TK2d. The family sought opinions from specialists across the country, but they were told there is no treatment.

Then Arthur Estopiñan met with Dr. Hirano.

“Dr. Hirano said he had an experimental treatment, and I nearly fell out of my chair,” Estopiñan recalls. “I repeated the diagnosis to make sure he had understood. He said, 'I understood what you said. And yes, we have a clinical path forward.'”

Years earlier, Dr. Hirano’s team at the H. Houston Merritt Neuromuscular Research Center had begun testing potential therapies in laboratory models. “We started using therapies in the mouse model, and they worked. Depending on the dose we used, it doubled or tripled the lifespan of the mice,” said Dr. Hirano. [read more]

Source: CUIMC Newsroom