In her recent article, Annalee Armstrong writes "Thirty years ago, the Down syndrome community helped scientists uncover critical learnings about the genetic basis of Alzheimer’s disease, and yet this population has never been included in the clinical research that has underpinned regulatory approvals for these medicines. Scientists and advocates say it’s about time. 90% of people with Down syndrome, also known as trisomy 21, will develop Alzheimer’s. They are the largest population of genetically determined Alzheimer’s disease in the world, at 6 million people."
Michael Rafii, M.D., Ph.D., a professor of Neurology and Medical Director of ATRI, recently spoke with Armstrong for FierceBioTech.com about his research on the crossover between Alzheimer’s disease and Down syndrome.
Rafii spoke of how a buildup of beta amyloid is a hallmark of Alzheimer’s. If you have an extra copy of that gene, your brain overproduces amyloid, eventually leading to an early-onset form of Alzheimer’s. People with Down syndrome can have plaques begin to form as early as 12 years old, he said.
Rafii notes that research has shown that patients with Down syndrome who have partial trisomy, meaning that the chromosome is not fully duplicated, do not develop Alzheimer’s because they don’t have the triple-APP gene encoded.
“If you look at all the AD clinical trials for the past 20 years, which have brought in some of the most promising therapies, in every study the exclusion criteria say having Down syndrome, and yet people with Down syndrome are the population that taught us about APP and beta amyloid,” Rafii said. “Now is the time to bring the latest therapies to this population and not to exclude them.”
The biopharma world has largely stayed away from clinical research in patients with Down syndrome—with one key exception. AC Immune is currently the only prominent company working specifically with these patients. In January, the company began enrolling a cohort of people with Down syndrome in the phase 1/2 ABATE trial, which is testing the vaccine ACI-24.060. This is the second study AC Immune has conducted in this population, after a phase 1b trial. Rafii is the principal investigator for both studies.
You can read the entire article at FierceBioTech.com.