When six-month-old Justina Peters was born this spring, there was little hope for her future.
The beautiful baby from Belize had been given a heartbreaking diagnosis, a rare genetic condition that in newborns was known to lead to a painful death within a matter of months. She was the second child in her family to be born with hypophosphatasia, a metabolic bone disease that interferes with the mineralization of the skeletal system, causing bones to soften and break.
However, a chance conversation between doctors at an event this summer celebrating Sanford Children’s has changed Justina’s life. As one of a small handful of infants undergoing trials of a revolutionary new drug therapy developed by researchers at Sanford Children’s Health Research Center and Enobia Pharma, a biotechnology company dedicated to develop products for bone disorders, Justina now has a hope of not only surviving, but thriving, her doctors say. This little girl is just one of many children who will be helped because of Sanford’s commitment to pediatric care world-wide, Sanford officials say.
“When you put the pieces together, good things happen,” said Dr. Michael Saba, Executive Director, Sanford Children's Clinics Development. “We’re going to save one child’s life as a result of this, but there is so much more good to come for so many families.”
Seeking help in Belize
Baby Justina’s story begins in Belize, where she was born in a Mennonite community with almost immediate symptoms of the hereditary disease that softens bones. While hypophosphatasia is extremely rare among the general population, affecting one in every hundred thousand births, it is fifty times more common in the Mennonite population, where as many as 1 in 2,500 infants are diagnosed with the condition. By the time Justina was two months old, her condition was worsening and her family sought help with doctors from Belize. Years earlier, her parents had watched an older child in their family suffer and die of the same condition but nothing could be done.
For decades, researchers have been trying to find a successful treatment for the disease. Hypophosphatasia is not usually fatal in adults or older children, but infants like Justina who show signs of the condition usually have a more severe version and die quickly after diagnosis. Many babies who have the condition are stillborn and many of those that live to delivery struggle with seizures and often die of respiratory failure. Researchers unsuccessfully tried a variety of treatments involving drugs and even bone marrow transplants, but nothing seemed to work. In June, Justina’s pediatrician in Belize, Dr. Wendy Rios, was attending a gala to celebrate Sanford Children’s work. The Central American country of 320,000 people is home to Sanford’s first international clinic, expected to officially open in 2011.
During the gala celebration, Rios happened to be seated on a bus next to Dr. Fred Levine, Director of the Sanford Children’s Health Research Center and professor at the Sanford-Burnham Medical Research Institute in San Diego, Calif. When the two doctors began to talk, they realized they had something in common.
Rios mentioned Justina who had just been admitted to intensive care as her symptoms worsened. Levine’s center had researchers who were developing a new treatment for hypophosphatasia that was showing promising signs in early trials. The drug developed by Sanford-Burnham researcher Dr. Jose Luis Millán for the pharmaceutical company Enobia seemed to be reversing the damage caused by the disease by targeting missing enzymes in the bone.
“It was an incredible coincidence that happened here,” Levine said. “An amazing number of things had to come together.”
Levine told Rios about a trial being conducted in Canada on this drug at Winnipeg Children’s Hospital in Winnipeg, Manitoba. And since Justina was failing quickly, something had to be done to get her there before she died. Sanford doctors and administrators worked hard to try to ease the roadblocks to getting Justina into the study. Although they live in Belize, Justina’s parents were Canadian citizens and only speak German. Their daughter is considered a citizen of Belize, which led to some complications in getting her care. Approvals were obtained for her to enroll in the drug trial and proper protocols had to be quickly followed.
“A child’s life was at stake,” Saba said. “There was a lot of determination by many people to help move through all those hoops.”
A Cinical Trial
By mid-July, Justina and her parents arrived in Canada for her to begin the study. The principal investigator for the Winnipeg site of the clinical trial, Dr. Cheryl Greenberg, said it was clear that she was very sick. She clearly was in pain and didn’t move very much at all.
However, soon after the baby started receiving injections of this new drug three times a week, her condition improved enough that she could leave the hospital. She’s now living with her parents with extended family in Saskatchewan, returning for appointments to continue the trial.
The little girl with the serious eyes now sits up, reaches for objects and puts them in her mouth, Greenberg said. She laughs and kicks her legs, responding to the people around her in a way that would have been impossible just weeks ago. For the Canadian doctor who has studied this disease for more than 30 years, Justina’s response to the treatment has been a heartening development.
“We’ve seen such dramatic improvements,” said Greenberg, who has been part of trials for about two years. “For the first time, there’s real promise that we’ll have an effective treatment for this disorder.”
Justina’s treatment and the trial of the drug that seems to be helping her could have good implications for families across the globe, including those people in South Dakota Mennonite communities, said Saba. It’s just one example of why it is important for Sanford to concentrate on the health of children worldwide, he said.
“This opens doors for research that we otherwise couldn’t do,” Saba said. “Our general mission is to help underserved children, but all this connectivity can lead to better things for everyone. It’s saving lives.”
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Posted Date: January 2011