After a rare genetic mutation cut short the lives of her father, grandfather and two uncles, Heather Mejia, a self-professed “big planner,” wanted to know if she, too, carried the gene so she could prepare for her future.
Genetic testing in 2017 confirmed what Mejia, 44, had suspected: she had indeed inherited the mutation for Dominantly Inherited Alzheimer’s Disease, which causes early onset Alzheimer’s, typically between ages 30 and 60, according to the Advocate Aurora Research Institute. After receiving the news, Mejia chose to participate in a leading-edge clinical trial held at Advocate Lutheran General Hospital in Park Ridge.
The disease affects fewer than 1% of people with Alzheimer’s, and those with a family history, including Mejia and her three sons, ages 3, 7 and 11, have a 50% chance of inheriting the mutation.
“For me, it’s really about making a broader difference,” said Mejia, who lives on the Northwest side of Chicago with her husband and children, of her decision to join the clinical trial.
“Those of us in the study are a small group of people across the world who have this genetic mutation… It’s not just for myself, but for my three kids and my nieces and nephews, and anybody else who might get it in the future.”
Advocate Lutheran General is the first Illinois site of the trial, which is sponsored by the Dominantly Inherited Alzheimer Network Trials Unit at Washington University in St. Louis.
The randomized, double-blind study has 168 participants in many states and throughout the world, according to information from Advocate.
Changes in the brain can start around 15 years before Alzheimer’s symptoms begin, and around 25 years before the onset of dementia, which is the reason people with Dominantly Inherited Alzheimer’s Disease provide such a valuable opportunity to study potential treatments that can delay the onset of symptoms, said behavioral neurologist Dr. Darren Gitelman.
Gitelman, the senior medical director of Advocate Memory Center and Advocate Aurora Research Institute, is the principal investigator for the study.
The DIAN-TU-001 clinical trial has eight participants at Advocate Lutheran General who either have no symptoms, like Mejia, or are in the early stages. The trial is probing the safety and effectiveness of two drugs: lecanemab, which was approved this year by the U.S. Food and Drug Administration, and E2814, which is still being investigated.
Lecanemab’s function is to reduce the amount of beta-amyloid plaque, a protein deposit that accumulates early in the course of Alzheimer’s disease, according to the Advocate Aurora Research Institute. E2814 is an investigational drug, and researchers will investigate whether it reduces the amount of tau, a protein linked to brain damage when it malfunctions.
Patients without symptoms, such as Mejia, receive a different treatment schedule than symptomatic patients.
Asymptomatic participants are randomly assigned to receive either E2814 or a placebo from the beginning to the end of the trial treatment period, which is scheduled to last four years but could last as long as seven years, according to Gitelman. At week 52, asymptomatic participants are invited to receive lecanemab for the remainder of the trial treatment period.
Symptomatic participants receive lecanemab from the beginning to the end of the trial treatment period, Gitelman said. At week 24, symptomatic participants are randomly assigned to receive either E2814 or a placebo for the remainder of the trial treatment period.
Thus, everyone in the trial will be on lecanemab after one year, along with either a placebo or E2814.
Participants are meticulously monitored with regular MRI scans and other testing, and sign explicit consent forms about potential risks, Gitelman said. For example, drugs like lecanemab can result in areas of brain swelling and brain bleeding, he said. Some patients have to stop treatment for a time, or altogether, and the entire clinical trial can be halted “if the risks exceed the benefits,” he said.
Mejia enrolled in the study two years ago and began monthly infusions in August. She doesn’t know if she’s currently getting a placebo or E2814, and will start receiving lecanemab in August 2024, she said. She has had no reactions to any infusions so far.
The circa three-hour process includes a blood test followed by an hourlong infusion and close observation. Mejia, who works as chief audit executive for Allstate, received the first three infusions in a medical van parked outside her residence. This month, she started getting them at home, under nurse supervision. Participants only are required to go to Advocate Lutheran for testing once a year.
Besides access to clinical trials, Advocate Memory Center provides treatment for Alzheimer’s and dementia. An early onset diagnosis is especially horrible for patients and their families, but having an explanation for their symptoms can provide some comfort, Gitelman said.
“Part of what we do is help people through the journey. We are there for them,” he said.
The progression of Alzheimer’s in Mejia’s family varies greatly: one of her uncles died of the disease in his mid-40s, her father at age 70.
Not everyone wants to find out if they carry the genetic mutation, Mejia said. “As a family member, everyone is on their own journey. Everybody chooses to find out their genetic status, or not find out, on their own timeline.”
While genetic testing gave Mejia and her family some clarity about the future, there are still many unknowns about what will happen and when.
She and her husband have begun focusing on long-term financial planning for their family, such as future costs for Mejia’s care.
“We made a choice to plan and really embrace life where we are,” said Mejia. “We don’t wait until we are retired to make decisions.”
There is also the question of whether her children have inherited the mutation. If they find out, they could choose to participate in clinical trials as early as age 18, she said.
For now, Mejia’s focus is on having as much time with her family as possible. An avid treadmill runner, she takes care of her physical health — which studies have shown can reduce the risk of getting Alzheimer’s and dementia — and her mental health, with enough sleep and stress management, she said.
“I had a wonderful, amazing father. Even during the times that were really difficult at the end, when he didn’t really remember us … it didn’t really erase the wonderful memories that we have,” she said. “I hope my children can have the same great memories of me.”
