Clinical trial for Alzheimer’s gene gives new hope to family
TORONTO — Almost since she got the devastating news eight years ago, Joanne has been looking forward, without really even knowing it, to a conference being held in Toronto on the weekend.
Early-onset Alzheimer’s disease caused by a genetic mutation was rife in her husband Ted’s family. His late mother had it. A half-dozen aunts and uncles had or have the disease, and some are now in advanced stages.
In 2007, Ted began to have a few mild symptoms.
The Woodbridge man was referred to Sunnybrook Hospital, where relatives had been treated, and was tested. In 2008, at just 44, the father of two and former owner of a transportation brokerage firm was found to have inherited the gene and he was diagnosed.
Joanne said her husband was prescribed medication “to slow down the onset of the symptoms, because there’s no cure at this time.”
At first the symptoms were mild and not obvious, she said. “We actually didn’t really tell anyone other than our immediate family. We didn’t even tell our kids.”
But as time passed, the symptoms progressed. Ted hasn’t worked since closing the family business in 2010.
“The short term-memory (loss) and repetition — those sorts of symptoms get more and more frequent as time goes on,” Joanne said. “In general, we just get through day to day.”
Then, just over a year ago, their doctor at Sunnybrook “informed us there was going to be this clinical trial for a couple of drugs that were being tested to possibly cure the disease.”
A research team at Washington University in St. Louis, Mo., led by Dr. Randall Bateman, hoped to test two drugs — antibodies called gantenerumab and solanezumab — that they hoped might prevent the disease.
The drugs are designed to disrupt the brain’s accumulation of amyloid beta, a protein thought to be a major contributor to the disease.
The researchers enlisted families from around the world who carried the specific gene mutation — which basically guarantees they will develop the disease in their 30s, 40s and 50s — for what was called the world’s first Alzheimer’s prevention trial.
So Ted went through a battery of tests over four days — cognitive tests, MRI, brain scans — and was approved to be part of the fouryear clinical trial.
In August he will redo all the baseline tests to gauge what has happened since he started.
It’s a blind trial so Ted doesn’t know — nor do his Toronto doctors — whether he has been taking the “live” drugs or a placebo, Joanne said.
The first patients in the trial started two years ago, she said, and the intention was to begin analyzing results at the two-year mark to determine the effectiveness of the drugs.
The clinical trial, and the second annual Dominantly Inherited Alzheimer’s disease family conference held in advance of the Alzheimer’s Association International Conference this week in Toronto, has given Joanne and her family new hope.
“I didn’t even realize a year ago that there was this conference,” she said.
“Having that feeling that you’re not alone, and getting ideas from other people, and hearing their stories, I’m sure that can be nothing but positive.”
Their 23-year-old son and 20year-old daughter have long since been told of the gene they have a 50-50 chance of having inherited, Joanne said. But since there’s nothing that can be done at their ages, even if they were found to have it, they have decided not to be tested yet.
“Once you have this information you have to live with it for the next many years wondering what will happen to you, and knowing what could happen to you,” said Joanne. “Because there’s really nothing they could do about it at this point they’ve decided not to be tested, with the hopes there will be a cure down the line.”
Trial organizers asked some time ago if the family would be interested in telling their story, Joanne said. “It’s important to get the word out about the disease, about this trial because it’s so groundbreaking and important.”
She asked that the family surname isn’t revealed to protect her children from having their medical history searched by prospective future employers.
Other than that, it’s exciting to participate in a project that brings such hope, she said, and to look forward to talking to others dealing with the same challenges.
“Our hope is, obviously, that one of the two drugs that’s being tested will have positive results,” Joanne said.