Duke Clinical Trial Providing Hope, First Birthday For Some Patients

Those babies are not expected to live past their first birthday, but thanks to clinical trials at Duke Children's Hospital, Yamila Romero Jimenez passed her one-year mark with flying colors.

Yamila's family knew if their daughter could celebrate a first birthday, it would be at Duke Children's Hospital.

"Now is the time to celebrate, for happiness," her father, Jorge Romero, said.

Romero's daughter has a rare genetic disorder called Pompe's disease. Yamila's body does not produce enough of a key enzyme that converts a starch, called glycogen, into sugar. The starch builds up in muscle tissue, including the heart.

"Typically babies with this disease die at about a year of age and they die because of a progressive enlargement of the heart," said Dr. Priya Kishnani, a Duke geneticist.

There is no treatment approved by the Food and Drug Administration for the disorder, but clinical trials for a new enzyme replacement therapy show promise.

The study and the special enzyme originated at Duke. That is why Yamila's family left Peru with the hope they would not lose a second daughter to the disease.

"The Lord has guided me to come here -- to one of the best hospitals in the world. Thanks to all the people who [do not] know me who have helped me," Romero said.

Researchers, doctors, nurses and friends of Yamila's family are celebrating with a cautious eye to the future. The clinical trial is small -- only three patients are enrolled at Duke.

The patients, including Mona Sleiman, get enzyme infusions every two weeks. Yamila's success gives Mona's family hope.

"Just being a year old is not good enough, but she's a year old with an almost normal heart," Kishnani said.

She is walking right in step with most children her age.

Pompe's disease does not just affect babies. The genetic disorder can present symptoms later in childhood.

The later symptoms appear, the less severe the disease usually is, but it still decreases life expectancy.