- Associated Press - Monday, August 25, 2014

GRACE CITY, N.D. (AP) - A Grace City family with three young sons dying from a rare disease is petitioning the Food and Drug Administration for approval to try an experimental drug.

Laura Kulsrud said an online petition was launched Wednesday night in hopes of gathering the necessary 100,000 signatures by Sept. 12 to get the petition to the desk of President Barack Obama.

The petition gained more than 1,500 signatures in just over a day, the Bismarck Tribune (https://bit.ly/1rkKlf4 ) reported.

Laura and Jay Kulsrud’s three boys - Lane, 13, Tanner, 11, and Ty, 9 - have been diagnosed with PKAN, a progressive, degenerative nerve disorder caused by a mutant gene that allows iron to build up in the brain and usually results in death by early adulthood.

The two oldest boys have exhibited symptoms of PKAN since 2012, which include uncontrollable muscle contractions that can cause jerking or twisting, rigidity and stiffness of limbs, weakness and difficulty walking and talking, and slurred speech.

The youngest has yet to show signs of the disease.

There is hope - and frustration.

The boys’ mother, Laura Kulsrud, said a new drug, RE-024, has been given to two patients in Europe and both have shown immediate improvement.

The drug is manufactured by Retrophin, a New York company. It is still considered experimental and has yet to be approved for use on human patients in the United States.

Trials on animals have shown promise for the drug, however.

Laura Kulsrud said the family has found a Canadian doctor who is willing to try the drug on the boys. But going through channels with the Canadian health care system could put the family to the end of September before treatments could begin.

“That isn’t a given,” she said. “They still have to approve it in Canada.”

She said the boys’ doctor from Sioux Falls, S.D., in April petitioned the FDA for what is known as an IND, or investigative new drug application.

Federal law requires a drug be the subject of an approved marketing application before it is transported or distributed across state lines, according to the FDA website.

This spring, Kulsrud made several trips to Washington, D.C., to plead her case - and her sons’ case - before the FDA.

She said with the success in Europe, there is now some hope the medicine might save her sons. But it’s been slow going.

Kulsrud said when she learned of the success in the European patients, she contacted a FDA again about getting her sons on it.

One of the patients began using the drug in May, she said.

“But the FDA is digging their heels in … there is no movement at all,” she said.

Kulsrud also has met with North Dakota’s congressional delegation, but their efforts have yielded no results.

She was told by the drug manufacturer the FDA wants another study on the drug and possible side effects.

The company has already conducted one study at a cost of $3 million, she said.

PKAN typically strikes in childhood and is fatal in 10 to 12 years after being diagnosed. Martin Shkreli, co-inventor of RE-024, said only about 1,000 children in the U.S. and 6,000 worldwide have been diagnosed with the disease.

He said part of the problem is that the FDA has no specific division for dealing with “orphan diseases” - diseases that affect fewer than 200,000 patients.

“We’re not sure how long things will take with the Canadian government,” she said.

“In the meantime, we continue to battle the FDA in the U.S. The two patients in Europe have seen improvements right away, so this makes us happy and frustrated all at the same time,” she said.

“We should be able to try a drug made in the U.S. The drug company wants to provide it; the doctor wants to give it to the boys; we as the parents want this to save our boys,” Kulsrud said.

“And the boys themselves want it so they have a chance at a normal life,” she said.


Information from: Bismarck Tribune, https://www.bismarcktribune.com



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