MPS clinical trial draws patients worldwide

June 9, 2008 7:43:23 PM PDT
A clinical trial is underway at Children's Hospital Oakland that's drawing patients from around the world. It involves a rare disease that leaves the bodies of children stunted, even while their organs continue to grow.

Four-month-old Jeffery Figueroa is too young to know he's a medical pioneer, but his mother believes that by beginning an experimental treatment at such a young age, Jeffery may have a fighting chance against the same genetic disorder that took the life of his older brother.

"Very emotional, you want to hold on to any little hope your have," says Maria Figueroa, Jeffery's mom.

Like Jeffery, older children also suffer what's known as MPS-6. It's caused by a missing enzyme that prevents cells from digesting long chains of sugar, leaving patients like Isabel trapped in stunted bodies, but with all the hopes and dreams of normal adolescents.

"I want to be a fashion designer," says Isabel.

Isabel may have a chance to chase her dream, because of the intravenous treatments she receives once a week at Children's Hospital Oakland -- a premier research hub for MPS disorders.

Using a drug developed by Bio-Marin, doctors are constantly replenishing the enzyme missing from her body.

Dr. Paul Harmatz says the results, though limited, are encouraging.

"We can't make them grow a lot, but their overall organ function has improved, sp they can go back to school. They can essentially function in normal life."

Right now, Dr. Harmatz and his team are trying to learn whether the therapy might be able to do more. By beginning the enzyme replacement shortly after birth, they're hoping to coax MPS patients toward normal growth.

"We think that based on some good animal studies, that if you can start enzyme shortly after birth, you'll be able to produce good bone growth," says Dr. Paul Harmatz MD.

The trial among infants is expected to continue for another year and has drawn families from around the world to Children's Hospital Oakland. The hope is that in addition to promoting more normal growth, the therapy can increase life expectancy for babies like Jeffery, perhaps decades past the 20 years of age that's typical for MPS-6 patients.


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