Injection brings hope for rare bone disorder - ABC 12 – WJRT – Flint, MI

Injection brings hope for rare bone disorder

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(08/22/12) -  A simple injection is making a remarkable difference in the lives of people with a rare bone disorder that causes problems moving, broken bones and shorter limbs. Until now, there was nothing doctors could do to fix it.

Early on, 16-year-old Karlee Wurster knew something about her was very different. "I had an aide that walked around with me."

At 6 months old, Karlee was diagnosed with a genetic and sometimes deadly disorder called hypophosphatasia.

"My bones are under mineralized, so it means they're just weaker than everyone else's," she says.

For some infants, the diagnosis can be a death sentence. For others, it brings frequent bone breaks. For Karlee, it meant a life of pain.

"I just tried to cope with it," she says.

Dr. Katherine Madson is a pediatric rheumatologist at the Center for Metabolic Bone Disease and Molecular Research at Shriners Hospital for Children. She says kids often start off in wheelchairs, but that is starting to change since about four years ago. That is when researchers began testing a drug called ENB0040. It replaces the missing enzyme needed for bone growth and calcification. Once injected, the drug goes straight to the bone. It is similar to insulin injections- patients inject themselves sometimes daily.

Within weeks, Madson says, some infants grew new bones and some reached other milestones. "They'd come in and show us how far they could jump or 'look at how fast I can walk.'"

While others assessed their success with steps, Karlee counted something else. "Shopping. I mean, I used to only go like 20 minutes."

Now, her mother, Kimberly, says, "she can do at least 2 hours."

After six weeks, the pain was all but gone and, she says, so was her wheelchair. "Once it started working, it was amazing."

Dr. Madson says side effects of the drug she hears about from patients include stinging and bruising near the injection site. Researchers don't yet know if patients will have to continue injections for the rest of their lives. The drug is in phase two clinical trials and is not yet FDA approved.

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