When Lianor da Cunha Hillerstrom of Lexington, Massachusetts, learned her now 9-year-old son Oskar had Down syndrome, she was concerned but not panicked.
As a child, Lianor lived for a time in Santo Amaro de Oeiras, Portugal, near her aunt Teresa who had Down syndrome, which causes intellectual disability. Had Lianor, who is 47, stayed in Portugal, she would have witnessed her aunt decline and then die at age 60 of Alzheimer's - the most common cause of death for people with Down syndrome.
Down syndrome affects 400,000 people in the United States and more than 6 million globally. People with the condition inherit a third copy of chromosome 21, giving them an extra helping of a gene that causes them to overproduce a protein called beta amyloid. People with Down syndrome, who were not included in either Eisai or Lilly’s late-stage trials, have higher-than-average rates of CAA, and neurologists are concerned that removing amyloid with a drug like Leqembi could weaken artery walls, leading to bleeding in the brain.Hillerstrom said the groups are "very strongly" lobbying Eisai and Lilly to conduct the safety trials in Down syndrome, and said he has been meeting with the companies to push them to design such trials.
LuMind and a coalition of six other advocacy groups made their case in a July 25 meeting with Medicare. They stressed that all other treatments approved by the U.S. Food and Drug Administration are available to people with Down syndrome, even when they had not been tested in people with the condition, sources who attended the meeting told Reuters.
Instead, Ances asks patients to join a clinical trial sponsored by the National Institute on Aging that has been screening potential patients using cognitive tests designed to measure changes in memory, language and attention specifically in people with Down syndrome. Dr. William Mobley, a neurologist at UC San Diego School of Medicine, said people with Down syndrome have come far since the 1950s, when standard medical advice was to send infants to an institution.
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