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Needless Delay for a Medicine That Could Save Kids' Lives

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My sister and I invented a gadget, and we're trying to get a patent. The application process seems arbitrary and even capricious, but our patent attorney assures us this is not unusual. When the examiner assigned to our case told us that our patent was allowable, we clinked glasses and hatched business plans. Two months later, the examiner changed his mind. We are now in a back-and-forth exchange with the patent office, with no clear end in sight. The experience has been frustrating and expensive, but in the end if we don't get the patent life will go on. We'll either build our business without the proprietary technology or find another way to make our fortune. We'll survive.

A similar drama that affects my family life is unfolding under the auspices of a separate government agency, the Food and Drug Administration. But in this case, the same painstaking bureaucratic pace and inconsistent decision making that plagues the patent office carries life or death stakes. If the right action is not made now without further delay, my 13-year-old son literally will not survive.

Charley has Duchenne muscular dystrophy, a progressive muscle-wasting disease. Newborns with Duchenne appear healthy, but as toddlers they exhibit mild signs of muscle weakness such as difficulty climbing stairs or jumping up and down. Children with Duchenne do not produce a crucial protein called dystrophin. As a result, every muscle in the body fails. Most children lose their ability to walk by adolescence. The disease causes complete paralysis. Ultimately the heart and lungs succumb, most often during the late teens or early 20s. There are no approved treatments, and the disease is 100 percent fatal.

An experimental drug called eteplirsen is showing that it can produce dystrophin and delay Duchenne's unrelenting downward course. This drug has been administered to 12 boys with the disease for more than two years. All 12 trial participants are producing robust levels of dystrophin. No side effects have been noted in any of the boys.

Every six months, doctors evaluate the 10 children in the study who are still ambulatory to see how far they can walk in six minutes. Remarkably, the scores for all 10 boys on the "six-minute walk test" have remained stable since the kids started treatment. Some of the boys have even improved, an outcome that is unheard of in Duchenne. The lung function of the two boys in wheelchairs has stabilized. It is widely known that once children with Duchenne sit permanently in a wheelchair, their lung function precipitously declines.

The FDA has the power to grant conditional approval for a drug if the medicine is "reasonably expected" to improve or extend lives. Just last week the FDA approved a drug to treat dizziness and lightheadedness associated with NOH, a nonfatal condition. The drug has only been proven to work for two weeks, but was granted accelerated approval because it is reasonably expected to work for a longer time period and therefore improve quality of life. All eligible patients will get access while further studies are conducted to confirm the preliminary efficacy results.

Yet eteplirsen, a treatment for a 100 percent fatal pediatric disease with no other treatment options, has not yet been deemed worthy of consideration for accelerated approval. This inconsistency is baffling.

We take rightful pride in "government of the people, for the people, by the people." But that cuts both ways. The people evaluating potential therapies are just that -- people. They are not all-knowing. They can make mistakes. They can't be expected to be an expert in every field.

Understanding that we cannot rely on human beings to be infallible, a group of patient advocates has met repeatedly with the FDA to educate the officials charged with evaluating eteplirsen. Six meetings have taken place over the past year; one lasted 3.5 hours. Yet the children are no closer to being treated. Earlier this month, I joined these advocates in bringing seven of the world's Duchenne experts to meet with the FDA. If the government officials won't listen to us, we reasoned, surely they would listen to the experts.

The physicians and researchers came from as far as Perth, London, and Toronto. All in attendance -- including the Harvard professor who discovered dystrophin in 1987 -- agreed that eteplirsen is producing the missing protein. All agreed that producing dystrophin is more than "reasonably likely" to lead to clinical benefit. All agreed that we are in fact already seeing clinical benefit in the 12 boys exposed to treatment.

"I was actually shocked by the lack of knowledge about Duchenne by all of the representatives of the FDA," commented one physician who participated in the meeting. Another doctor remarked, "I cannot believe how flippant he was," when describing one of the FDA officials tasked with deciding whether my son and thousands of other children will get access to a treatment that could save their lives. I could stomach this lack of knowledge and lack of urgency on the part of our government bureaucracy if it means I won't get my patent. But no parent should have to tolerate this when her child's life is at stake.

For months we've been playing by the rules. We hired a government relations firm to hone our "messaging" and to help get Congress on board. We hired a PR firm to help rouse the public to action. For the past 10 years, the charity I run has spent a miniscule 4-6 percent on expenses not directly related to medical research and drug development. In the past three months alone we have spent tens of thousands of dollars trying to get the FDA to follow the law.

My advisors tell me to keep working the system, to keep the door cracked open by giving FDA officials opportunities to "save face" and encourage a new drug application for eteplirsen. But I cannot allow any more time to go by. On Oct. 3, 2012 when data was released after nearly a year of treatment, I received an email from a well-respected Duchenne physician. The subject line read "Oh Happy Day."

I just saw the results of the 48-week data of eteplirsen. There is no doubt that exon skipping works in Duchenne. This changes the face of Duchenne ... I'm sitting in my office unable to do anything. To think that some little boy who would have become quadriplegic and die early will not now...

I received that email 16 months ago. I wonder how many boys with Duchenne have become quadriplegic since then. Duchenne affects approximately 20,000 people in the United States alone. The disease knows no ethnic or geographic bounds; it affects children all over the world in equal numbers. Families all over the world are anxiously waiting for the United States to lead the way toward a new treatment. Yesterday a father from Jordan called my office to ask if "your government" has agreed to allow access to the new medicine yet.

For 18 months now it has been clear to the patients and the doctors that this drug has a real shot at improving children's lives. In that time, my son has lost the ability to get up off the floor without help. This winter he has stayed inside because it's too exhausting to walk in the snow. He can no longer get a gallon of milk out of the fridge. How much longer should I wait for the FDA officials to come around? Should I wait until he needs a wheelchair full-time? Should I wait until he has to rely on a bi-pap machine to breathe at night? Should I wait until I'm planning his funeral?

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