Sen. Casey pushes for expansion of research into rare pediatric diseases
Adelyn Rinaldi is 2 months old and surviving in a hospital bed on enzyme therapy that treats a rare bone disorder called hypophosphatasia.
Only about a dozen living children have her form of the disease worldwide, her mother said.
“They don't usually live,” said Jennie Rinaldi of Somers, Conn.
But her treatment at Children's Hospital of Pittsburgh of UPMC gives her family hope.
“It's been a great experience so far, and her X-rays show improvements,” Rinaldi said.
On Friday, Children's Hospital served as the centerpiece for a news conference by U.S. Sen. Bob Casey, D-Scranton, about bipartisan legislation he calls the Advancing Hope Act, which would expand and fund more research into rare pediatric diseases.
In 2012, Casey helped author legislation that awarded vouchers to drug companies that earned approval of therapies for such diseases. The program expires next year, and Casey wants to make it permanent.
Under the proposed legislation, if a drugmaker shows progress in treatments, a voucher gets “priority review” by the Food and Drug Administration and can be approved more quickly, creating incentive for the drugmaker to conduct additional research.
For example, Adelyn's medicine is not FDA-approved but she qualified for a trial treatment and is progressing.
Casey introduced Rinaldi to reporters and described an encounter with her.
“I got down to her level and looked at her,” he said. “She didn't say anything to me but I have to believe she'd say, ‘Look pal, I'm working hard; you better work hard, too, and get this done.' ”
Dr. David H. Perlmutter, physician-in-chief and scientific director at Children's Hospital, said drugmakers unfortunately often overlook rare diseases.
“The families are often faced with a very lonely feeling that there's not much that can be done for their children,” he said. “It's so important for us to have this support. And I love the title of this act. The idea that we call this an act of hope is uplifting.”
Ben Schmitt is a staff writer for Trib Total Media. He can be reached at 412-320-7991 or firstname.lastname@example.org.