Drug trial gives hope to children with debilitating genetic disease

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SAYLORSBURG, Pa. (CBS) The results from a new drug trial are giving hope to people with a rare, genetic disease called spinal muscular atrophy. Doctors have found that giving the treatment very early, when patients are infants, seems to be the key to helping them develop like typical children.

Four-year-old Gabriel Peters loves playing outside with his brothers. It's something his parents never thought they'd see.

"We didn't think he would have the opportunity to run around with his brothers like he does and wrestle like he does. It's just amazing," said Robert Peters, Gabe's dad.

Gabe was diagnosed in-utero with spinal muscular atrophy or SMA. It is a rare, genetic disease that results in severe and progressive muscular atrophy and weakness. It can even lead to death. The family's oldest child, 11-year old Lydia, also has the disease.

"We were very upset when we got the diagnosis of a second child. We were trying to figure out how we are going to fit two wheel chairs in the car," Peters said.

The family enrolled Gabe in a clinical trial for infants with SMA headed by Dr. Darryl Devivo at Columbia University Irving Medical Center.

"With diseases like this, we want to treat them as early as possible, ideally before they develop any clinical evidence of the disease," Dr. Devivo said.

He treated Gabe and other infants in the study with a drug called Spinraza. The medication is injected into the spinal cord and works by increasing the number of motor neurons sent throughout the body.

"Of that group 100 percent have achieved the ability to sit... and 88 percent are walking alone, independently," Dr. Devivo said.

Lydia is participating in a different phase of the study.

"To compare Lydia and him is kind of like night and day, I would say. He started crawling and then walking at 15- months-old. Lydia crawled at 11-years-old and never took an independent step, so it's incredible," said Laurie Peters, Gabe's mom.

Gabe goes for treatment every four months. His parents say it's uncomfortable for him, but the results are worth it.