MORE FROM THE STACKS
EDITOR’S NOTE: There are literally thousands of journals published around the world that relate to the disability community. It is virtually impossible to capture even a fraction of them. HELEN receives "stacks" of journals and selectively earmarks what we feel are "must read" articles of interest for our readers. It's a HELEN perk!
AHEAD Study Trail Participant Shares His Experience
By Lauren Fetten (2/3/2025)
For Tim Williams, a man with an extensive family history of Alzheimer’s, enrolling in a clinical trial was unknown territory worth exploring.
ApoE4, a genetic variation sometimes referred to as the “Alzheimer’s gene,” is one of the most influential genetic risk factors for developing Alzheimer’s disease. Carrying one copy of this gene raises risk a little. Carrying two copies means as much as a 60-percent increase in one’s chances of receiving an Alzheimer’s diagnosis.
Tim Williams and his wife took the 23&Me test hoping to be armed with new knowledge of what diseases they may be genetically at risk of. A saliva sample revealed that Williams was in this high-risk group for Alzheimer’s — he is a homozygous carrier (carrying two copies) of ApoE4. Williams was not blindsided by the news, given that he has an extensive family history of Alzheimer’s. His father was diagnosed with it in 2004 and died of Alzheimer’s four years later. Williams’ sister, Beth, was diagnosed in 2019 and passed away in 2023.
Following his sister’s diagnosis, Williams founded a fundraising team called Remember the Love that participated in the Walk to End Alzheimer’s, and he began looking around at clinical trials that would give him an opportunity to get involved in research into treatments and cures. “I thought I needed to do something different and something more,” he said.
Through Trial Match, a clinical trials finder on the Alzheimer’s Association’s website, Williams found the AHEAD study and went through a several-month screening process to determine whether he was eligible to participate. One aspect of this eligibility screening process was brain imaging to look for beta-amyloid protein plaques that tend to build up in the brains of people with Alzheimer’s disease. These hallmark plaques might be present years before symptoms appear.
“A PET scan revealed that I had either no plaque or my plaque wasn’t at a level to qualify for the AHEAD study,” he said.
But, during this screening process, the trial administrators tested Williams’ genetics again, and confirmed that, while he didn’t have the early signs of Alzheimer’s in his brain, he did indeed have two copies of ApoE4.
Williams went on to find other studies that he was eligible for, including Alzheimer’s Prevention Trial, which took place online and required memory and cognitive tests every three months.
“Williams is open about his status as a homozygous ApoE4 carrier and has spoken to his two adult sons about what this elevated risk means, although neither of his children are interested in undergoing genetic testing. ”
Following another PET scan in November 2023, Williams received a call from Dr. Ian Grant, a neurologist in Chicago. Just a year after his original scan for amyloid plaques, this new scan yielded a different result: There now were beta-amyloid plaques building up in Williams’ brain.
“When he told me that I had elevated plaque in my brain, I was freaking out,” Williams recalled.
One outcome: Williams was now eligible for the AHEAD study after all. Focused on participants who are at higher risk of developing Alzheimer’s later in life, AHEAD investigates possible treatment with an “anti-amyloid” drug called Leqembi, designed to slow or stop these early Alzheimer’s brain changes by clearing out the amyloid plaques.
In March of 2024, Williams re-entered the screening process for the AHEAD study through the Alzheimer’s Disease Research Center in Madison, Wisconsin. The screening included blood work, memory tests, and two PET scans to look for plaque and tau tangles in the brain. He received his first infusion in August, and he commutes 85 miles each way from his home in Burlington, Wisconsin for regular infusions of the drug.
For Williams, enrolling in the study carries added risk. Homozygotes for the ApoE4 gene have significantly higher risk of brain swelling and bleeding (ARIA) during treatment for MAB drugs.
“Normally in the AHEAD study you have the MRI after the third infusion. I had one after the second one, and again after the third, because of my E4 status,” Williams said.
Williams knew he was at higher risk of side effects from the drug because of his genetic status. But it didn’t stop him from wanting to participate.
“I wasn’t nervous about it,” he said. “I prayed to God, ‘What do I do?’ I just get this feeling when God’s answering me.”
He worked with Cynthia Carlson, a nurse practitioner at ADRC, who explained the process by which the trial administrators would monitor his brain for these small bleeds, swelling, shrinkage, or other red flags of a bad reaction, and determine next steps if these effects were detected.
“She [Carlson] said that someone in our study had brain bleeds or brain swelling and then they just decided to skip the month [of infusions]. They ask that person, ‘Do you want to continue or just be done with it?’ and they [the participant] said they just want to skip the month and continue with the study.”
Williams, who is in a blind trial, doesn’t know whether he’s in the test group or the control group — whether he’s actually receiving the drug itself or a placebo. But he has experienced some side effects with his early rounds of infusions.
“During the infusion, I got crazy chills, I got a headache, I was lightheaded,” he said. “When I got home and looked at some of the side effects of lecanemab, and those are some of the side effects. The second infusion, I had the same type of things. The third one, I was lightheaded again, but I was warm, not cold.”
These effects didn’t change his mind about participating, he said. “The people at the AHEAD study in Madison are fabulous,” Williams said. “They’re all so gracious and polite and appreciative of what volunteers are doing. It’s been a wonderful experience.”
There are moments where Williams’ memory fails him, and symptoms of cognitive decline reveal themselves.
“Yesterday, when we were driving in this little town that I live in, I went from Walmart and I was going to Pick and Save and I had to think for a minute about somewhere I’ve gone hundreds of times. I had to think about, ‘How do I get into Pick and Save?’”
Still, Williams works 30 to 35 hours per week selling office furniture, and was previously an owner of an office furniture dealership for 30 years, which he sold about three years ago.
“Nothing has affected my work. Nothing has affected my day to day activities,” Williams said of his occasional forgetfulness. “I like working. It gives me something to do. I enjoy meeting people and seeing people.”
Williams is open about his status as a homozygous ApoE4 carrier and has spoken to his two adult sons about what this elevated risk means, although neither of his children are interested in undergoing genetic testing.
Williams’ wife, who also participated in 23&Me testing, is not a carrier of the E4 gene, ruling out the possibility of their sons being homozygous carriers themselves.
“My hope is, [and] my prayer is, [that] this works. What if it works and 20 years from now, I’m 87 and I don’t have Alzheimer’s?” Williams asked. “I’ve been telling my story for the last couple years and I’ve probably gotten 20 plus people involved in research because of it. It’s a wonderful thing.”
Electric Shock Device Ban to Be Published As ‘Final Rule’ in October 2025, FDA Estimates
Liam O’Dell (12/17/2024)
The Food and Drug Administration (FDA) will look to publish its ‘final rule’ banning electric shock devices for “self-injurious” or “aggressive” behavior in October next year, the US federal agency has confirmed.
The FDA previously looked to outlaw the devices in 2020, but the rule was overturned by the US Court of Appeal for the District of Columbia (DC) Circuit a year later, following a legal challenge filed on behalf of the Judge Rotenberg Educational Center (JRC), which uses the devices to electrocute autistic students. The court concluded in a 2-1 opinion that the ban concerned the regulation of the practice of medicine, which is outside the FDA’s remit.
In a statement issued at the time and reported by Reuters, the Massachusetts-based school said: “With the treatment, these residents can continue to participate in enriching experiences, enjoy visits with their families and, most importantly, live in safety and freedom from self-injurious and aggressive behaviors.”
The JRC has been condemned by disability organizations and advocates over the “treatment”, which United Nations special rapporteur Juan Méndez said in 2013 has caused the rights of JRC students subjected to shocks to be “violated under the UN Convention against Torture”. Méndez also called for legal “protections” against the ‘aversives’ at a federal level in his report, which the JRC dismissed in a since-archived document as a “statement based on a false report submitted by an advocacy group”. Méndez continues to stand by his report.
Following the appeals court’s decision in 2021, the Food and Drug Amendments of 2022 clarified the FDA’s authority to ban the electric shock devices, with the agency publishing a new proposed rule in March this year to prohibit the use of equipment. The rule closed to public comments on 28 May.
However, in June, a subcommittee of the House Appropriations Committee overseeing the FDA gave its approval to a bill for the 2025 fiscal year containing an amendment to the Federal Food, Drug and Cosmetic Act. Section 722 of the fiscal bill sought to add additional text to the Act to state that the FDA has the power to “make such intended use or uses [of devices] a banned intended use or uses” except for “devices that are authorized or ordered for an individual by a court of competent jurisdiction”.
“Following the appeals court’s decision in 2021, the Food and Drug Amendments of 2022 clarified the FDA’s authority to ban the electric shock devices, with the agency publishing a new proposed rule in March this year to prohibit the use of equipment. ”
Disability non-profit the Autistic Self Advocacy Network (ASAN) expressed concern over the rider, calling on supporters to contact members of the full House Appropriations Committee and urge them to remove Section 722 from the bill. A month later, the committee backed the Fiscal Year 2025 Agriculture, Rural Development, Food and Drug Administration, and Related Agencies Appropriations Act, though a report published by the group with dissenting opinions notes the rider has been withdrawn.
Rosa DeLauro, a Democrat representative for Connecticut and ranking member of the committee, wrote: “In response to the outcry from the disability community and many members of the Committee, in the Manager’s Amendment, Rep. Harris removed his own bill language that would have effectively stopped FDA from banning the use of electric shock devices on youths with behavioral issues and developmental disabilities. “FDA is now free to continue towards a final rule to at last end this barbarous practice.”
ASAN welcomed the decision and said it was “thrilled” the committee “listened to our community on this urgent issue and acted to protect disabled people from torture”. It added: “We are grateful that this rider did not make it into the current version of the bill, but the fight isn’t over yet. The full House of Representatives, and the Senate, still need to vote on this bill. “Thanks to your efforts, we have built strong bipartisan opposition to Section 722. We will continue to work with Congress to make sure this rider stays out of the final bill. “Meanwhile, the FDA still needs to do their part with the power our community fought for them to keep. ASAN calls upon the FDA to swiftly release the final version of their proposed rule ‘Banned Devices; Proposal to Ban Electrical Stimulation Devices for Self-Injurious or Aggressive Behavior’.”
In response to a request for comment on Monday, an FDA spokesperson confirmed it estimates a publication date of October 2025 for the publication of its final rule banning electric shock devices. “This estimate is subject to change as the FDA continues to thoroughly review and assess all timely comments received on the proposed rule in accordance with our rulemaking procedures,” they said.
According to the Office of the Federal Register, final rules generally take effect “no less than 30 days after the date of publication” in the register, with the potential to make it effective sooner by citing a “good cause”.
ASAN and the JRC were both approached for comment.
(Liam O’Dell)