New Drug Gives Growth and New Life To Girl With No Bones

Janelly Martnez-Amador was given the gift of life just when doctors had prepared her parents for what the doctors believed was inevitable. The adorable little girl was born with a severe form of hypophosphatasia, a genetic disorder that prevents skeletal mineralization. When things looked hopeless, a clinical trial of a new drug turned her situation around.

Nurses prepared Janelly for a photo session at the hospital, removing her tubes and dressing her in a cute pink outfit so that her parents could have a keepsake of their baby girl without all the medical equipment that was sustaining her life.  Janelly’s rare form of hypophosphatasia meant that she didn’t have the ribs to support breathing, and her parents were faced with the decision of continuing life-sustaining intervention, or letting their little girl go.

Luckily, she held on long enough to be included in a trial for an experimental medication at Monroe Carrel Jr. Children’s Hospital at Vanderbilt in Nashville, Tennesee. Only 11 children were chosen to participate, and Janelly was, by far, the most sick of the group. Her bones did not show up on x-rays, and she couldn’t move her body. At 2 years and 8 months of age, she wasn’t even at the three-year-old threshold the trial required.

The drug was a biologic enzyme called asfotase alfa, and Dr. Michael P. Whyte, a metabolic bone disease specialist at Washington University School of Medicine in St. Louis wanted to try it on a spectrum of toddlers with hypophosphatasia. The disease affects people of all ages in varying degrees of bone loss, but for babies like Janelly, who was diagnosed at 4 months of age, it is typically fatal.

The clinical trial began in February 2009. The drug had been developed by Canada-based Enobia Pharma Corp. and put on a fast-track approval because it was the first possible treatment for the disease. The Shriners Hospitals for Children and Enobia, which is now owned by Connecticut-based Alexion, funded the trial.

Doctors placed a port in Janelly’s abdomen, where she received the infusions of the bone-targeting enzyme. Despite fairly quick responses from the other children in the study, Janelly didn’t seem to respond at first. Whyte was worried that her disease was so severe that the treatment might not help.

“We kept hearing from all the other sites that patients were having significant improvements,” said Dr. Jill H. Simmons, a pediatric endocrinologist at Vanderbilt children’s hospital. “We kept getting skeletal surveys and seeing no evidence of calcification. We really weren’t seeing any improvements in her for six months.”

“We were very concerned when the therapy started that there was no mineral in her bones to target with enzymes,” Whyte said. “So, would the enzyme find its way to bone and hook onto something to help her? But apparently — although you couldn’t see the mineral on an X-ray, you didn’t see any bones on X-ray–there was still enough there that the first molecule or enzyme to land did something.”

Finally, after a year of treatment, Janelly could move her limbs. Six months later, her x-rays showed ribs forming, and she was taken off the ventilators that had kept her breathing throughout her life.

Thanks to the experimental drug, Janelly now scoots around in a stroller and dances to music from her exersaucer. She’s about to turn seven, but she’s still the size of a toddler, as her bones have just begun to grow. Only time will tell what effect the disease will have on her learning ability, but her parents are surely thrilled to have their daughter home, on the mend–and on the move.

Source:
usatoday.com/story/news/nation/2013/04/22/girl-without-bones-drug-therapy/2102683/