Did you know that people with Down syndrome have a 95% chance of developing Alzheimer’s disease by the age of 65?
ALZHEIMER'S DISEASE AND ITS CONNECTION WITH DOWN SYNDROME
Versus: people in the general population have a 12% chance of developing Alzheimer’s disease by age 65.
Alzheimer’s disease is the leading cause of death of people with Down syndrome. Alzheimer’s Disease (AD) is an urgent medical concern for the Down syndrome community. LuMind IDSC responds to this urgency by working with the Down syndrome community, scientific researchers, and the life science industry to develop evidence-based therapies and treatments aimed at combatting the onset of Down syndrome related Alzheimer’s disease (DS-AD).
THE LINK BETWEEN DOWN SYNDROME AND ALZHEIMER'S DISEASE
Human chromosomes usually occur in pairs. Neuro-typical individuals are born with 23 pairs of chromosomes, while people with Down syndrome are born with three copies of Chromosome 21. The Amyloid Precursor Protein gene (APP) that produces amyloid protein is located on Chromosome 21.
In Alzheimer’s disease, the amyloid protein is cleaved by enzymes into smaller pieces called peptides, the peptides clump together to form amyloid beta plaques that are toxic to brain neurons.
The appearance of tangles in Alzheimer’s disease is closely associated with the appearance of symptoms of memory loss and other forms of cognitive decline. The tangles are comprised of a protein known as “tau” which loses its normal function in brain cells forming toxic tangles.
Since people with Down syndrome have an extra dose of the APP gene, they have an extra amount of amyloid protein. That is why scientists believe that people with Down syndrome get Alzheimer’s disease at such a high rate and at a younger age than the general population. By age 40, the brains of almost all individuals with Down syndrome have significant levels of amyloid plaques, one of the hallmarks of Alzheimer’s disease.
BREAKTHROUGH IN ALZHEIMER'S DISEASE TREATMENT
In a groundbreaking decision that signals new hope for people with Alzheimer’s disease, the U.S. Food & Drug Administration (FDA) granted full approval for Leqembi, a drug that slows the progression of Alzheimer’s disease, on July 7, 2023.
Leqembi, which was co-developed by biopharmaceutical companies, Eisai and Biogen, is approved to treat patients in the early dementia stage of Alzheimer’s disease who also have “confirmed presence of amyloid beta pathology” in the brain. Read more about Leqembi’s conditional approval in January 2023 here.
For the 1.5 million people in the early stages of Alzheimer’s disease, the FDA decision is a reason to celebrate. Not only is Leqembi the first anti-amyloid drug to receive full approval from the FDA, it has also demonstrated better and more consistent clinical trial results than its predecessor, Aduhelm™, which was conditionally approved for use in June 2021.
While this breakthrough is a milestone in treating Alzheimer’s disease, there are still questions that remain for our Down syndrome community. You can read our official statement about Leqembi online. Additionally, we have included 5 Updates on Down Syndrome Community Access to New Alzheimer’s Drugs online for your reference.
ADVANCES IN ALZHEIMER'S DISEASE RESEARCH
Helping people who are “on the path” to Alzheimer’s disease is why new medical tests called biomarkers have been developed. Up until recently, scientists did not have biomarkers to measure changes in the brain so most of the drug development efforts were focused on people who were already showing symptoms caused by Alzheimer’s disease.
Because there are still so many unknown factors about how to repair the damage done by Alzheimer’s disease, many scientists are now focused on disease prevention. In fact, because biomarkers can predict and measure neurological change over time, much of the Alzheimer’s research field is moving toward prevention and enabling strategies for early treatment of symptoms.
If you want to find out more about current scientific advances, follow our Research Spotlight blog.
Dr. James Hendrix and a committee of researchers from the Alzheimer’s Association, recently published Committee on High-quality Alzheimer’s Disease Studies(CHADS) Consensus Report, which will guide the protocol development and conduct of clinical trials in Alzheimer’s disease research.
This report may further provide a platform for the development of education materials that may help guide appropriate clinical trial participation decisions for potential trial participants and the general public.
WATCH THESE WEBINARS ON DS-AD
These webinars will be useful to parents and families, providers, advocates, clinicians, practitioners, and others invested in the future for persons with Down syndrome.
The State of Alzheimer's Research
discuss recent developments in Alzheimer’s research.
and Alzheimer's Disease
Down syndrome and Alzheimer's disease:
What you need to know.
STEPS TO TAKE NOW THAT YOU KNOW MORE ABOUT DS-AD
- Finding a healthcare professional with expertise in Down syndrome (we can help you find one).
- Keep an eye for Potential Signs of Alzheimer’s disease.
- If you are questioning a behavior or the loss of a skill, start tracking that behavior and bring your concerns to your loved one’s doctor.
- Read and learn more about DS-AD (myDSC is one free resource available to all).
- Researchers are still learning about lifestyle changes that can lower the risk of developing Alzheimer’s disease. These include diet and exercise to maintain a healthy weight, social engagement, education, and treating other health problems such as obstructive sleep apnea. Overall healthy lifestyles lead to a healthy brain and lowers the risk of Alzheimer’s disease later in life.
- Become involved in research and clinical trials.
- McCarron, et. al. J Intellect Disabil Res. 2017;61(9):843-52.
- Hithersay, et al. JAMA Neurol 2019; 76: 152–60.
- Alzheimer’s Association Facts and Figures, 2020. https://www.alz.org/media/Documents/alzheimers-facts-and-figures.pdf
- Fortea, et. al. Lancet 2020; 395: 1988–97.