By the age of 40, approximately 95% of people with Down syndrome develop Alzheimer’s disease, the leading cause of death for this population. Yet individuals with Down syndrome historically have been excluded from participating in clinical trials into treatments for Alzheimer’s disease.
Now, that access will expand in the U.S. and globally, thanks to a game-changing gift from the Linda and Mike Mussallem Foundation to the Keck School of Medicine of USC and its Epstein Family Alzheimer’s Therapeutic Research Institute (Epstein ATRI).
Opening Access to Treatments
“Our experiences with our beloved brothers who both had Down syndrome and also later developed Alzheimer’s gives us a unique perspective on the urgent need for better treatment options,” said Mike and Linda Mussallem, co-founders of the Linda and Mike Mussallem Foundation, in a joint statement. “It is meaningful for us to support the Epstein ATRI team as they advance clinical trials for innovative therapies to improve the lives of people with Down syndrome who have or are at risk for Alzheimer’s.”
The Mussallems are partnering with a leader in research-based solutions for people with Down syndrome.
“We are grateful to Linda and Mike Mussallem for their timely support of our growing clinical trials efforts. People with Down syndrome deserve access to the same life-changing breakthroughs beginning to emerge for the general population,” said Michael Rafii, MD, PhD, professor of neurology at the Keck School of Medicine, Medical Director of the Epstein ATRI and Principal Investigator of the Alzheimer’s Clinical Trials Consortium—Down Syndrome (ACTC-DS).
The Mussallem Foundation gift will add more domestic sites to the ACTC-DS clinical trial network, currently 20 sites strong. The funding will also maintain four international clinical trial sites that would have paused research due to a loss of government funding, at Trinity Centre for Ageing and Intellectual Disability, Dublin; University of Cambridge, United Kingdom; Institut Jérôme Lejeune, Paris; and, Sant Pau Medical Research Institute, Barcelona.
The Mussallem’s generous gift includes a matching component that will effectively double the impact of their support, accelerating the enhancement and expansion of the ACTC-DS network.
“This is an exciting time with a growing number of treatments for Alzheimer’s disease under evaluation,” said Dr. Rafii. “We are committed to fast-tracking the most effective interventions for the Down syndrome community.”
Targeting Genetic Origins
Down syndrome occurs when an individual has a third copy of chromosome 21. The extra chromosome carries a gene that produces one of the key proteins (amyloid precursor protein) involved with changes in the brain caused by Alzheimer’s disease.
“Individuals with Down syndrome are very capable participants in clinical studies,” Dr. Rafii said. “Developing treatments specifically for them can lead to significantly improved outcomes.”
Recent trials being conducted by Epstein ATRI and its partner sites include:
“Studying the early onset and quicker pace of Alzheimer’s disease in people with Down syndrome can provide important insights that benefit others,” said Dr. Rafii. “For example, symptoms and biomarker changes in adults with Down syndrome closely resemble similar events in late-onset Alzheimer’s disease in the general population.”
“People with Down syndrome are teaching us about the genetic basis of Alzheimer’s disease and more,” he said. “Thanks to the Mussallem Foundation, we are even closer to the day when an individual with Down syndrome will have a menu of research options before them.”
About the Mussallems
Linda and Mike Mussallem each grew up with an older brother who had Down syndrome. Another shared experience was how their mothers made sure their sons had opportunities for education, integration into their communities and safe, happy places to live as adults.
The Mussallems launched the George and Bob Fund in their brothers’ names in 2005 to benefit children and adults with Down syndrome. Both George and Bob had received excellent health care and lived happy lives; both also had Alzheimer’s when they died.
After decades of philanthropic commitments, Linda and Mike officially unveiled the Linda and Mike Mussallem Foundation in 2024. The foundation’s mission is to harness the power of innovation and integrative health solutions to address complex health challenges and create meaningful, long-lasting change for overlooked populations in need. The Foundation’s current priorities include congenital heart disease, next-generation healthcare innovation, integrative/whole person care, and Down syndrome health care.