ALBANY, N.Y. -- It was the little things that many people take for granted that started to suddenly improve. Angeline Cacchillo was able to button her blouses, tweeze her eyebrows and worry less about her rings sliding off her fingers, made slender by the debilitating disease slowly attacking her muscles.
The long drives she and her husband Robert were making from Schenectady to Ohio State University seemed to be paying off. The couple, both retired high school teachers, were sure the experimental drug that Angeline Cacchillo was taking was working.
The university's research doctors put her through the paces. Treadmill. Urine tests. Blood samples. Heart monitor. Download the data from her ankle monitor that gauged her daily activity. Lots of questions. "How do you feel?" the doctors would ask.
On the trip home they kept the frozen dosages of the experimental drug, Iplex, packed in dry ice in a small cooler in their car. One dose per day was injected into Angeline Cacchillo with a small syringe. Robert Cacchillo said he became adept at handling the injections, and his wife "took to the drug like a duck to water."
"She was able to cook and bake more, clean the house faster, clean more rooms," Robert Cacchillo said. "When I met her, her muscles were hard as a rock. Fit. Exercised all her life. Never drank or smoke. She was a perfect candidate for this therapy and it worked. ... Within three or four months she was able to walk up a long flight of stairs."
But in the fall of the 2008 the experiment that the Cacchillos believed was prolonging and improving her life abruptly ended after six months. The Virginia drug company behind the study, Insmed, declared their patented drug had no effect on the myotonic muscular dystrophy that has afflicted Cacchillo and some 38,000 others nationwide.
They shut down the clinical studies at 13 sites and informed the Food and Drug Administration there would be no more studies related to Iplex. A site, not one used by the Cacchillos, was shut down at the University of Rochester. It was over.
The decision resonated around the globe as people afflicted with muscular dystrophy diseases, including amyotrophic lateral sclerosis (ALS), known as Lou Gehrig's disease, saw their hopes for a miracle drug apparently dashed.
Cacchillo, whose disease makes her chance of having a fatal heart attack five times higher than average, saw her muscles deteriorate rapidly as she came off the study. Walking became more difficult. Her energy and muscle strength are easily sapped. In many people, they begin to thin from the effects of their muscles breaking down. Imagine squeezing a friend's hand only you can't unclench your fist.
Angeline Cacchillo, in an unprecedented court case, is fighting back. She alleges Insmed and its representatives, which had recruited her for the drug experiments, led her to believe she could continue taking the drug under a "compassionate use" application to the federal government even if the drug was not approved for sale and distribution by the Food and Drug Administration.
Last week she filed a lawsuit in U.S. District Court in Albany seeking a court order compelling Insmed to support her compassionate use application to the FDA, and to immediately give her access to the drug while the case is pending.
But the company and its lawyers have countered it's just not possible. They said their research showed the drug failed to help people with myotonic muscular dystrophy, including Cacchillo. Also, the company no longer produces the drug and Insmed can't support her application because they would have to assert to the FDA that Iplex helped her.
"That's not a statement we can make. ... Those that got the sugar pill did better than those that got the drug," Robert P. Charrow, an attorney for Insmed, told U.S. District Judge Thomas J. McAvoy during a hearing Friday.
In addition, Charrow said, there is a limited supply of Iplex. The company stopped researching the drug and 19 months ago sold its only drug-manufacturing facility to a competitor. What was left of the drug is being distributed to a few dozen people with ALS -- a terminal disease -- in the United States and Italy under a compassionate use initiative.
"In six to nine months it will run out," Charrow told the judge.
Cacchillo's attorney, Kevin A. Luibrand, told the court that Insmed broke its promises to his client by leading her to believe she would be able to continue receiving the drug even if the clinical studies failed. He also said her doctor in Albany and another at Ohio State University would attest to the fact that Cacchillo's condition improved while she was taking the drug.
"She was there to get the medication, she wasn't there to be a lab rat," Luibrand told the judge. "They have to honor their representations. ... She's trying to get up to the plate. She needs the bat. The bat is their support (to the FDA)."
As the hearing unfolded Cacchillo sat in a wheelchair taking notes. Her husband sat next to her. He said they met in the 1960s at a Schenectady church. He needed a date for a bowling league event.
They married 42 years ago, he said, and their life was dominated by a devotion to education and a love of travel. He taught math and technology for 32 years at Guilderland High School. She taught French and Spanish for 33 years at Mohonasen High School. They retired in 1998.
As teachers they chaperoned students to France and other European destinations. Angeline Cacchillo, lean from a life of exercise, logged years of bumpy bus rides as a cheeleading adviser.
Robert CacchilloCacchillo, 67, declined to be interviewed for this story.
Looking back, Robert Cacchillo said, the first sign of trouble came 24 years ago when a routine blood test on his wife showed abnormal liver function. For years doctors grappled with what caused the results. Climbing a flight of stairs became difficult and the disease's slow and shadowy onset finally was detected in July 2005.
"I was desperate to discover some means of stemming the progression of MMD1 through my body," Angeline Cacchillo wrote in an affidavit filed in federal court. "Each day I am without Iplex my condition worsens and becomes increasingly difficult to reverse."
The federal judge, McAvoy, said he would quickly issue a decision by the end of next week. But he said to Luibrand that because of a limited supply of Iplex a court order in Cacchillo's favor could deprive an ALS patient of their supply.
"That's the tragedy of the situation," Luibrand responded.
Despite the company's legal argument that Iplex was not proven effective in treating myotonic muscular dystrophy, there were no clinical studies done to determine the efficacy of the drug in treating ALS, which usually causes death in less than five years after onset.
Friday's hearing did not delve into a patent infringement lawsuit that Insmed lost in California in 2007. The lawsuit was brought by Genentech, a Delaware corporation that produces a similar but arguably less effective drug than Iplex that is used to treat growth disorders. Robert Cacchillo said the outcome of that case is that Insmed could no longer research and produce Iplex at a profit.
Meanwhile, the Italian government negotiated for most remaining supplies of Iplex to be distributed to ALS patients there under a compassionate use program similar to the FDA's that's run by the Italian Health Ministry. The supplies are scheduled to run out next summer.
Tuesday, October 19, 2010
Posted by BA Haller at 9:45 PM