In 2012, a large-scale prevention trial in Alzheimer’s disease was launched to determine whether an investigational medicine could slow or even prevent the devastating toll of the disease.
The trial was a result of a lifelong partnership between two dedicated scientists, the commitment of an extended family in Colombia with a rare genetic mutation and the collaboration of research partners across the community. Now, a decade on, the trial has paved the way for future research by adding rich data to enhance our knowledge about how the disease progresses over time.
Researchers believe that earlier intervention in Alzheimer’s disease may hold the key to slowing down or possibly even halting its effects. However, this presents one of the biggest challenges in Alzheimer’s disease research: the recruitment of participants who have yet to show any symptoms but who are destined to develop the disease.
Yet thanks to the discovery and participation of an extended family in Colombia who carry the Presenilin 1 E280A mutation that typically causes cognitive impairment due to Alzheimer’s disease around age 44, researchers were able to pinpoint with near certainty who will develop the disease. With the involvement of this unique kindred, a clinical study was initiated aiming to assess the potential impact of therapeutic intervention before symptoms appear.
Francisco Lopera, from the University of Antioquia, and Kenneth Kosik, from the University of California, are the researchers at the heart of this story. In the early 1980s, as a young neurologist, Francisco met a 47-year-old man at his clinic in Medellin, Antioquia. The man appeared to have Alzheimer’s disease. To Francisco this stood out, as the man’s father, grandfather and several other members of his family had all developed dementia and sadly died of the same illness at an unexpectedly young age.
Years later, Kenneth, a neuroscientist, heard of Francisco’s findings and offered to collaborate with him. As it looked very likely that the disease was inherited, the two researchers set out to identify the gene responsible. It would later turn into an intensive hunt for a treatment with the potential to help.
The partnership grew when Francisco met with two physicians from the Banner Alzheimer’s Institute who were working on research on prevention. Eric Reiman and Pierre Tariot shared a similar but never-before-executed vision.
The National Institute on Aging came on board. Talks ensued and the suitability of potential molecules were assessed. The kindred’s preferences, across dosing schedule, form of administration and potential efficacy versus potential side effects were also carefully taken into account by the Treatment Selection Advisory committee.
In September of 2011, after nearly two years of discussions with several pharmaceutical companies, the physicians were nearing a final decision on the molecule and the partner for the trial. What started as a casual conversation at the end of an Alzheimer’s research meeting turned into an opportunity for Genentech, a member of the Roche Group, to put its investigational molecule up for consideration at the last minute.
Then, in 2012, the trial was announced by the Alzheimer’s Prevention Initiative, an international research collaborative led by Banner Alzheimer’s Institute, in collaboration with the University of Antioquia in Colombia, Roche and the National Institute on Aging.
Today, more clinical trials are aiming to target Alzheimer’s disease early, before symptoms even appear and researchers are hopeful for a brighter future.
The entire Alzheimer’s research community is indebted to the Colombian families who enrolled in this trial. Thanks to their participation, we have been able to collect a vast, priceless set of data that has advanced our understanding of the natural history of Alzheimer’s disease and provided valuable insights that could unlock new approaches to treatment and prevention.
The PSEN1 E280A or ‘Paisa’ mutation originates from a kindred in the Antioquia region of Colombia. The genetic mutation virtually guarantees that carriers will develop Alzheimer’s at the average age of 44 and dementia at the average age of 49. The Colombian PSEN1 E280A kindred are the world’s largest extended family with ADAD, with ~6,000 family members and ~1,200 with the mutation.
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