Skip to Main Content

“I cannot tell you how much it means to me that my extra chromosome might lead to the answer to Alzheimer’s,” Frank Stephens, a self-advocate with Down syndrome, told Congress in 2017. His heart-wrenching comment, which was followed by thunderous applause and a standing ovation, got it exactly right.

People with Down syndrome have an extra copy of the 21st chromosome — the chromosome on which the gene that codes for amyloid precursor protein is located. The accumulation of amyloid plaque in the brain is associated with the development of Alzheimer’s. Though the amyloid theory of Alzheimer’s is controversial, one thing is clear: Around 70% of people with Down syndrome will be diagnosed with Alzheimer’s in their 40s and 50s.


But not all hope is lost. Five years after Frank Stephens testified, there are promising, repurposed drugs for Alzheimer’s disease. In its first phase II trial, a new medicine called Leukine boosted cognition and memory scores and improved all three biomarker measurements for dementia. In addition, promising new drugs known as monoclonal antibody treatments — or mAbs — are now coming online in the United States. In July 2021, the Food and Drug Administration approved the first such treatment. Another followed this year, and a third showed promise in a phase 3 study, according to an announcement from Eli Lilly on Wednesday.

Unlock this article by subscribing to STAT+ and enjoy your first 30 days free!


Create a display name to comment

This name will appear with your comment

There was an error saving your display name. Please check and try again.