Giving Victims a Ray of Hope - August, 13, 2006
GRETCHEN METZ, Staff Writer
TREDYFFRIN -- Danny Miller was slow to talk when he was a tot. His mother, Amy Miller, thought the 18 ear infections he had suffered in his early life had impaired his hearing. Doctors put tubes in his ears to correct the problem.
But nothing helped.
Danny had Hunter syndrome, a progressive and debilitating genetic disorder that interferes with the body’s ability to break down and recycle waste in the cells.
He was diagnosed by a specialist in developmental medicine after his pediatrician became concerned about the little boy’s lagging motor functions by age 3.
Amy Miller said she still remembers her husband’s words in the doctor’s office six year ago: "So, we have to give him a pill everyday?"
But there was no pill.
"The doctors told us to take him home and enjoy and love him," Miller said. "That was 2000. We were pretty much blown out of the water."
Treatment for the genetic disorder which can lead to premature death did not arrive until July 24 when the U.S. Food and Drug Administration approved Elaprase, an enzyme replacement therapy.
Elaprase, developed by global pharmaceutical giant Shire, is the first product that treats Mucopolysaccharidosis II, or MPS II, commonly called Hunter syndrome.
British-based Shire launched Elaprase last Wednesday at a reception at its U.S. headquarters in Chesterbrook.
Shire employees gathered to listen to Amy and Ray Miller’s story of their son, who now at age 10 sees 10 specialists.
At a time when Danny should be headed for fifth grade, he cannot speak. The few words Danny learned as a tot were slowly lost to the progressive disease, his father said.
Many of the employees in attendance were visibly moved as the Millers’ told of their hope that Danny’s quality of his life would be improved by Elaprase.
They also listened to Adam Cohen, a 26-year-old Long Island man diagnosed with Hunter syndrome when he was 5.
Cohen, who was part of Elaprase’s clinical trials, thanked the Shire employees.
Cohen has an enlarged heart, restricted airway, hearing and vision problems, and joint issues.
"It progresses slowly," Cohen said. "You don’t notice it day-to-day. But after five years, you notice you can’t do what you used to do."
Elaprase is infused once a week for three hours.
Cohen, an honor student through high school and college, said once during his college years he missed a session. Without the medicine, Cohen said his breathing was labored and he felt tired.
Young Danny was not part of the clinical trials. Because of sever neurological problems, he was not responsive enough to give the doctors the information they needed to judge the drug’s effects, his parents said.
Hunter syndrome usually becomes apparent in children one to three years of age It is disease in which the person’s body is defective in producing the enzyme which is needed to adequately breakdown complex sugars produced in the body.
Elaprase replaces the missing enzyme.
Symptoms include growth delay, joint stiffness, and coarsening of facial features. In severe cases, patients experience respiratory and cardiac problems, enlargement of the liver and spleen, neurological deficits and death.
Elaprase was designated as an orphan product by FDA.
Orphan products are generally developed to treat rare diseases or conditions that affect fewer than 200,000 people in the U.S.
The Orphan Drug Act provides a seven-year period of exclusive marketing to the first sponsor who obtains marketing approval for a designated orphan product.
Hunter syndrome is diagnosed in approximately one out of 65,000 to 132,000 births, according to the FDA.
"This is the first product that brings help to a very small group of seriously ill patients who have no other treatment option," said Dr. Steven Galson, director at the Center for Drug Evaluation and Research. "This approval is a good example of how the Orphan products program can benefit the public health with urgently needed products that would otherwise not be commercially available."
Shire’s sales force will market the drug to physicians who specialize in genetics and pediatricians, said Matthew P. Cabrey, Shire’s senior manager of corporate communications in North America.
Marketing the drug "takes a specialized niche approach," Cabrey said. "We want to get the word out, create awareness."
The company is looking to get marketing approval for Elaprase in Europe this fall, Cabrey said.
FDA Press Release FDA Approves First Treatment for Hunter Syndrome - July 24, 2006
Giving Victims a Ray of Hope - August, 13, 2006
What is Hunter Syndrome?
About Hunter Syndrome
It’s a Rare Disease
Physical Therapy Treatment
Atlantic Riding Center for the Handicapped – February 14, 2007
Saving Ryan - CBS 60 minutes II segment on Ryan Dant who has MPS I