In 2008, a young child, known simply as Baby Amy, was flown from her home in Ireland to Winnipeg, Canada to be treated for Infantile Hypophosphatasia (HPP) a horrible – often fatal – disease that makes bones dangerously fragile. The results were striking. On the way to Canada, Baby Amy was transported in an insulated box to prevent her bones from breaking. On the way home, after receiving an enzyme replacement therapy (a drug called ENB-0040), she was healthy enough to be held by her mother. Dr. José Luis Millán, a professor in the Sanford Children’s Health Research Center at Sanford-Burnham had worked closely with ENOBIA Pharma and Dr. Michael P. Whyte of Shriner’s Hospital for Children in St. Louis to create this first-ever treatment for HPP. He was understandably thrilled.
“While physicians may be familiar with the feeling of helping other human beings and alleviating their suffering on a day-to-day basis, it is very rare for a basic scientist to experience that,” said Dr. Millán. “Baby Amy allowed me to experience that satisfaction. It was very rewarding to see this therapy improve the quality of life of the first patient ever to receive it.”
Recently, a chance meeting saved Justina, another child with HPP. Dr. Wendy Rios, a pediatrician for Sanford Health who practices in Belize, was attending an event last June when she happened to sit next to Dr. Fred Levine, who directs the Sanford Children’s Health Research Center. When Dr. Rios shared the story about Justina’s deteriorating condition, Dr. Levine told her about Dr. Millán’s work on the rare disease.
“It was an incredible coincidence that happened here,” Dr. Levine said. “An amazing number of things had to come together.”
As a result of their conversation, Justina was brought to Winnipeg for ENB-0040 treatment. Though she could barely move when she arrived, within a few weeks she could sit up, laugh and reach for objects.
“We’ve seen such dramatic improvements,” says Dr. Cheryl Greenberg, who runs the trial in Winnipeg. “For the first time, there’s real promise that we’ll have an effective treatment for this disorder.”