Like many families, John and Tami Marick understand firsthand the devastating effects Alzheimer’s disease has on loved ones, and the risk it poses to those with Down syndrome.
Virtually all people with Down syndrome develop brain changes associated with Alzheimer’s disease by age 40, and approximately 95% will go on to develop dementia due to Alzheimer’s, now the leading cause of death among adults with Down syndrome.
The Maricks launched the JTMF Foundation in 2021 to fulfill a mission to improve the lives of people in need, including empowering individuals with intellectual and developmental disabilities.
Fast forward, the Maricks fortuitously met Michael Rafii, MD, PhD, medical director of the USC Epstein Family Alzheimer’s Therapeutic Research Institute (ATRI) and principal investigator of the Alzheimer’s Clinical Trials Consortium – Down syndrome (ACTC-DS).
“We shared our family’s experience with Alzheimer’s disease and Down syndrome with Dr. Rafii,” said John Marick. “Our conversations aligned with Tami’s and my desire to expand clinical trial access and advance better treatments for this underserved community.”
Vanguard Trial Sites and Expanding the Network
As a result, the JTMF Foundation has expanded its footprint with a game-changing $3.3 million gift to USC to fund three main initiatives:
“We are working to identify the earliest signs of Alzheimer’s disease in adults with Down syndrome so that we can change these outcomes through earlier diagnosis, better treatments, and ultimately prevention,” said Dr. Rafii, professor of neurology at the Keck School of Medicine of USC and the world’s most cited expert on the intersection of Down syndrome and Alzheimer’s disease.
“Thanks to the JTMF Foundation’s extraordinary generosity,” he added, “we will be able to pursue new approaches while expanding access to cutting-edge clinical research for a community that has been overlooked for far too long.”
The five Vanguard Trial Sites will be high-performing centers that set the clinical and operational standards for the Alzheimer’s Clinical Trial Consortium-Down Syndrome (ACTC-DS) research. The Vanguard Sites will be the first to lead implementation of new clinical trials, develop best-practice guidelines, refine diagnostic pathways tailored to people with Down syndrome, and test new tools before they are rolled-out across the network.
The groundbreaking ACTC-DS network is aimed at accelerating effective interventions and increasing clinical trial participation for individuals with Down syndrome who have, or are at risk for, Alzheimer’s disease. The global network of 25-plus active trial sites gained its latest site at OSHU when the Maricks saw an unmet need for expanded research opportunities in the Foundation’s own backyard of Portland, OR.
Enhancing the Trial Experience
The third aspect of the JTMF Foundation gift, the Research Ambassador Program, will employ one or more trained, paid Research Ambassadors with Down syndrome at each Vanguard Site to engage with potential trial participants and families, ease their anxiety, and enhance the trial experience. In addition, the Ambassadors will serve as representatives of what is possible for individuals with Down syndrome.
“We’re particularly proud to help create meaningful employment opportunities at these centers,” said Tami Marick, “while also helping to create a welcoming environment for those considering participating in a trail.”
Unlocking the Genetics
Down syndrome occurs when a person has a full or partial extra copy of chromosome 21. The surplus genetic material alters the course of development, resulting in characteristics associated with Down syndrome.
Chromosome 21 is known to carry the amyloid precursor protein (APP) gene—mutations in APP cause early-onset Alzheimer’s. In people with Down syndrome, the extra copy of APP results in amyloid plaques and subsequently, the development of Alzheimer’s disease. In this way, the extra copy of chromosome 21 is providing insights into prevention and treatment for both individuals with Down syndrome and the general population.
“People with Down syndrome are helping unlock the genetics and biology of Alzheimer’s disease,” said Dr. Rafii.
Clinical trials being led by Dr. Rafii at USC Epstein Family Alzheimer’s Therapeutic Research Institute and its partner sites include the ABATE trial, which is testing an active immunotherapy targeting amyloid; the ALADDIN trial, testing donanemab, an FDA-approved drug that removes amyloid from the brain and is currently in clinical use in the general population; and the upcoming APPLAUDS trial, testing a treatment that targets the extra copy of the APP gene.
“The generous gift from the JTMF Foundation enables us to break through research barriers and bring solutions forward faster,” said Dr. Rafii. “We are honored to advance this work on behalf of such an extraordinary community.”