Yeetle Box - Jacob's Ladder

A federal judge ordered a research company to supply an experimental drug to a 16-year-old, Jacob Gunvalson, a Minnesota boy who is terminally ill with a rare form of muscular dystrophy.

Jacob suffers from Duchenne muscular dystrophy, a genetic, degenerative disease that mostly affects young boys. Typically, those who suffer from it die in their 20s because of weakness in their heart and lung muscles. There is no known cure, but the Gunvalsons believe the experimental drug holds hope.

The dispute centers around a clinical trial of PTC124 that included a 28-day preliminary phase in 2005 and a 96-week phase about to begin. This trial could mean a major breaththrough for shareholders should it fail medically, but retain hope otherwise.

As described on their web page, PTC Therapeutics describes this treatment thus:

PTC124 is a novel, orally administered small-molecule compound that targets a particular genetic alteration known as a nonsense mutation. Genetic disorders occur as a consequence of mutations in an individual’s DNA. Nonsense mutations are single-point alterations in the DNA that, when transcribed into mRNA, introduce a premature translation termination codon. This change halts the ribosomal translation process at an earlier site than normal, producing a truncated, non-functional protein. PTC is developing PTC124 for the treatment of genetic disorders in which a nonsense mutation is the cause of the disease.

A piece of cake!

The decision offers no immediate relief to Jacob. Due to asinine federal regulations, Jacob cannot begin taking the drug immediately because...well...he just can't! Because we have the greatest health care system in the world, and allowing immediate relief would compromise the United States' self-proclaimed status as "the best."

PTC Therapeutics plans to appeal the ruling by U.S. District Judge William J. Martini, who also denied the company's request to put his decision on hold while it was appealed.

Jacob's family contends that PTC, of South Plainfield, led them to believe he could participate in a clinical trial of the drug, which is being investigated as a possible treatment. But they say the company then went back on its word - much to no ones surprise at all.

The company maintained that no promises were made. It said that allowing Jacob to join the clinical trial would not be safe and would set a bad precedent that could hinder research. By bad precedent, the company means they would have to do the same for others, and that would adversely effect their shareholders by possibly finding a cure for this rare disorder.

Martini ruled from the bench on Wednesday while Jacob sat in a wheelchair next to one of his lawyers, with his parents sitting nearby.

"It's clear to me that if the plaintiff, Jacob, was denied this relief, he would suffer irreparable harm," Martini said. "His condition has already deteriorated significantly in the past year."

PTC Therapeutics' lawyers shrugged, then objected to the word "significantly." They were overruled. They shrugged again.

Gunvalson's parents, John and Cheri, claim that PTC employees — including senior vice president Claudia Hirawat (left), who once hosted them at her house overnight (no doubt as part of a fundraiser) — assured them that Jacob would have access to the drug even though the medication he was taking at the time excluded him from taking part in the preliminary trial. Ms. Hirawat joined PTC in 2000 as the company's seventh employee. Partnering with the CEO and the senior management team, Ms. Hirawat played a key role in building PTC and was directly involved in fundraising, operational directives, public and investor relations, patient and professional advocacy and commercial development.

Later, they discovered that Jacob could not participate in the 96-week trial because he hadn't participated in the preliminary trial - a small faux pas, but, nonetheless, significant to the integrity of the company's mission.

The judge said that while he has conflicting accounts of what the family was told, he found the company was particularly close to the family.

"They had a special relationship that this court considers more than typical," Martini said.

PTC president and CEO Stuart Peltz (left) denied that, asserting, "In fact, on the very night Mrs. Gunvalson and her son were staying at the home of a PTC employee, another patent's parent was staying with her as well. We have patients everywhere. We don't consider any of them 'special'!"

He continued in a manner befitting a man who was a Professor in the Department of Molecular Genetics and Microbiology at the University of Medicine and Dentistry of New Jersey and who has published over 80 publications in the area of post-transcriptional control processes and who received his Ph.D. from the McArdle Laboratory for Cancer Research at the University of Wisconsin.

"In contrast to big pharmaceutical concerns, it is quite natural for our team to form close relationships with donors...I mean, patients and other donors....I mean, members of the rare disease community," Peltz said in a statement that described the company as a small startup. It has no products being marketed.

With dazzling disregard for the treatment of Jacob, he continued.

"Our relationship with the parents of patients should be taken as evidence of our commitment to the community, rather than as evidence of some promise of special treatment," Peltz said. "Why, you don't have to have a genetic disorder to stay with our employees. We are open to the entire community staying with our employees."

In the presence of Jacob, who by this time had slumped considerably in his wheelchair, PTC also argued that U.S. courts have decided that terminally ill patients have no right to get unapproved drugs.

PTC lawyer John G. Hutchinson, in arguing for a stay of the ruling, questioned the urgency of the matter. The family was told in January that Jacob would not get the drug but did not sue until July, he said.

Gunvalson lawyer Marc E. Wolin said the family filed its lawsuit within weeks of when it got a definitive rejection on July 1.

But Dr. Peltz could not stop himself from asserting allowing individual exceptions while developing drugs is counterproductive and could delay getting approvals for the drugs. "If we do, there is serious risk no patients will want to participate in our current clinical trials, in which they might receive a placebo rather than PTC124," he said while receiving high fives from his lawyers.

The company would have to take a number of steps to add Jacob to the trial, including making filings with the FDA, which Hutchison told the judge might take at least six to 10 weeks, underscoring the primary issue that Jacob's treatment was, at best, low priority.

Jacob's prognosis is not clear, Wolin said, adding that he was last able to walk in March 2007. "It's clear that he's getting weaker as it goes on," he said. "Clearly, our treatment has had no effect on his prognosis. We are, sir, in fact, dismal failures at what we do."

Jacob is not happy.

The Yeetle Box