Nearly nine in 10 adults with Down syndrome develop Alzheimer’s disease by their early to mid-60s, and a Fort Worth research team is stepping into the national spotlight to help explain why. UNT Health Fort Worth’s Institute for Translational Research has been named the first Texas clinical site in a nationwide study that will follow adults with Down syndrome over time to look for the earliest biological warning signs. Investigators say the hope is to pinpoint markers that could allow doctors to diagnose sooner and connect people to clinical trials faster.
According to UNT Health Fort Worth, the site will begin enrolling adults age 25 and older in June, with about 10 participants expected during an initial startup phase and roughly 45 in total. All services will be provided at no cost to participants. Melissa Petersen, Ph.D., will serve as the site’s principal investigator, and families can email [email protected] for details. The study is funded through a National Institutes of Health award to the University of Pittsburgh, with UNT Health participating as a subrecipient.
What Researchers Are Targeting
Scientists are focusing on the extra copy of chromosome 21 that defines Down syndrome. That additional chromosome carries another copy of the amyloid precursor protein (APP) gene, which leads to increased amyloid production and earlier buildup in the brain. Tracking how those biological changes develop over decades is one of the central goals of the ABC-DS consortium, according to ABC-DS.
How Common and How Early
A pooled analysis of international studies, detailed in a review in the National Library of Medicine database, put the mean age of Alzheimer’s dementia onset in people with Down syndrome at about 53.8 years. That review drew on decades of clinic and cohort data. Estimates from the Alzheimer’s Association and related research groups place the lifetime risk in the high 80s to low 90s percent by the 60s, underscoring the heavy burden of disease in this community, according to the Alzheimer’s Association.
What The Study Will Do
The ABC-DS protocol includes repeated medical exams, standardized memory and thinking tests, blood draws, and brain imaging (PET and MRI) to chart when amyloid and other biological markers start to appear, according to ABC-DS. Participants are asked to bring a study partner, usually a family member or caregiver, who can fill out questionnaires and flag subtle changes over time. Local reporting notes that caregivers are often the first to notice small shifts in behavior or memory that can tip researchers off to early decline, as reported by Fort Worth Report.
Where This Fits In Trial Efforts
ABC-DS enrollment can plug participants into a broader clinical trial pipeline so they are ready when experimental therapies open up. The Trial-Ready Cohort-Down Syndrome (TRC-DS) effort is designed specifically to match people with Down syndrome to treatment trials and allows co-enrollment with ABC-DS to speed recruitment. ClinicalTrials.gov notes that TRC-DS aims to enroll adults ages 25 to 55 in a run-in cohort and then fast-track matched volunteers into trials as they become eligible.
Local Research And Next Steps
UNT Health Fort Worth researchers have already published work on blood-based proteomic markers that may help detect amyloid positivity in adults with Down syndrome who do not yet show symptoms, an experience that feeds directly into the ABC-DS effort. A recent analysis in the National Library of Medicine database examined how APOE ε4 status relates to a proteomic blood test for amyloid. Local coverage also reported that the site received about $6.8 million to support its role as a subrecipient on the award, a funding boost that organizers say will help make testing and trial access more available to North Texas families, according to D Magazine.
Advocates and clinicians say bringing ABC-DS to Texas should expand access to diagnostics, counseling, and trial opportunities for North Texas families dealing with a disease that often strikes in mid-life. Researchers add that enrolling more diverse, regional participants will sharpen understanding of both protective and risk factors and could help speed the development of treatments that benefit people with Down syndrome and the wider population affected by Alzheimer’s disease.
