Pittsburgh at the Forefront of The Brain Revolution

Alzheimer’s disease is the most expensive ailment to treat and the sixth-leading cause of death in the United States. Pittsburgh has become a battleground in the fight against the devastating illness, thanks to the decade-long quest of two Pittsburgh researchers whose work is on track to change the face of medicine and affect millions worldwide.

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The late Gail DeMoe of Tioga, N.D.,  (top) and her six children (clockwise from top left), the late Brian DeMoe, the late Doug DeMoe, Karla DeMoe Hornstein, Dean DeMoe, the late Lori DeMoe McIntyre and Jamie DeMoe, in 2005. All of the children but Karla inherited the genetic mutation for early onset  Alzheimer’s. The family’s ongoing collaboration with Pitt researchers may hold the key to a cure for the disease.

Theory into practice

When thinking about significant medical breakthroughs, it’s important to remember that doctors form only half of the equation. The other half is made up of people who, whether by choice or by chance, often remain anonymous to history. They are the patients who are essentially the human testing ground for the science. On Valentine’s Day 1984, exactly 18 years before Klunk and Mathis’ PiB trial in Sweden, Thomas Starzl pioneered the world’s first heart and liver transplant thanks to a 6-year-old Texas girl named Stormie Jones, who inherited a rare disorder that caused her cholesterol levels to skyrocket. Thirty years earlier, on Feb. 23, 1954, Jonas Salk tested his polio vaccine on children at Pittsburgh’s Arsenal Elementary School.

With proof in hand that the discovery of PiB could track Alzheimer’s disease, Klunk now set his sights on putting it to practical use in other patients, where he could watch Alzheimer’s progression in real time, not just at autopsy. The field had been theorizing that the best time to target the disease was as early as possible — maybe even before people started showing symptoms. Now they were able to view how a buildup of amyloid proteins in the brain corresponded with a person’s cognitive abilities.

To examine the disease’s progression, Klunk sought a tiny sliver of the Alzheimer’s population: people born with a genetic mutation that guarantees early onset of the disease, typically when a carrier is in his or her 40s. Known as autosomal dominant Alzheimer’s, it affects only about 1 percent of the overall number of people who have the disease. Those who carry it have a 50 percent chance of passing it on to their children.

In 2004, just two years after the first patient was injected with PiB, a family of oil workers from North Dakota were undergoing a battery of tests designed to diagnose what was causing them to struggle with jobs they had done for virtually their entire adult lives.

Unlike the general population, people with genetic mutations for Alzheimer’s could get a definitive diagnosis through a blood test. Such was the case for the DeMoe family of Tioga, N.D., and the news went from bad to worse: five of the six siblings had the mutation. As did Stormie Jones, they had inherited a disastrous medical anomaly that could unlock solutions for the rest of the world. Determined to find some meaning in their fate, they sought research that might lead them to an experimental treatment.

In Bill Klunk, they found a champion. The DeMoes — and eventually many of their cousins and children — began making annual pilgrimages to Pittsburgh, where they would undergo days of testing designed to compare their cognitive levels with the amyloid load that PiB illuminated in their brains. Klunk learned about each of them in painstaking detail, quite literally inside and out. He celebrated their triumphs and walked with their ghosts. He helped them adjust to nursing homes. He advised their spouses on handling their combative outbursts.

In late 2012, when the scientific community finally was ready to begin clinical trials of drugs that fight amyloid buildup, he shepherded them into the Dominantly Inherited Alzheimer’s Network, which tests experimental Alzheimer’s drugs in people with mutations to determine whether they can stop the disease. One of the test sites is at Pitt.
Years earlier, in his book “The Puzzle People,” Starzl reflected on his interaction with transplant patients, many of whom introduced themselves after some time had passed by saying, “I know you won’t remember me, but …” He recalled how Stormie Jones’ shoelaces were always loose and how unforgettable her smile was.

“They were wrong about one thing. That I would not remember,” Starzl wrote.

In that same vein, Klunk will not forget the DeMoes; they have forever changed him, their lives giving purpose to his work just as his work gave purpose to their lives.

From the original six DeMoe siblings who came through the Pitt Alzheimer’s center, two since have died, and one is in a North Dakota nursing home, unable to participate any longer. But their children, cousins, nieces and nephews all have entered the research, carrying on their family’s legacy. Along the way, Klunk has helped them transition into nursing homes, comforted those left behind when someone dies, and counseled the younger generation as they contemplate whether they want to know their own genetic status.
“These people have kids the age your kids are, and you know all too well the impact of the disease in the elderly, and you try to extrapolate what it means for these people,” he says. “I feel like I’m a part of the family in a way because they make you feel that way.”

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