It can even be detected in patients with comorbid pathologies.
The researchers obtained a small skin sample from 74 patients who participated in the study. Photo: Shutterstock.
A new research suggests that a skin test The minimally invasive approach can accurately diagnose Alzheimer’s disease with high sensitivity and specificity, even in the presence of comorbid conditions.
Daniel Alkon, MD, chief scientific advisor for SYNAPS Dx, the company behind the test, said “the test that measures factors related to synaptic connections in the brain could be added to other tests to greatly increase the certainty of making a diagnosis.” of Alzheimer’s disease. The findings were presented at the International Conference of the Association of Alzheimer (AAIC) the 2022.
According to the study, clinical trials testing potential AD therapies typically include patients without a definitive diagnosis dementia For EA, this is because diagnoses are often uncertain, especially during the first 4 to 5 years of the disease.
Several tests have been developed to detect signs of AD, including magnetic resonance imaging and positron emission tomography tests for amyloid plaque, cerebrospinal fluid, and plasma measurements of soluble amyloid.
However, none of these tests have been widely validated at autopsy, the scientific adviser said, previous studies have shown that more than 50% of patients not only do they have AD, but they also have other pathologies, such as Parkinson’s disease, dementia frontal lobe or dementia multiple infarction.
“It is not enough for a test to discriminate Alzheimer from a control person who is not insane. It is only valuable if it can be distinguished from other types of dementiaAlkon said.
He noted that while beta-amyloid and tau are used as “pathological red flags” to identify Alzheimer’s disease Alzheimer at autopsy, they are not excellent for definitively diagnosing the disease because they are not closely related to cognitive deficits. There is an “urgent unmet medical need” for a highly accurate and easily accessible AD biomarker, he added.
One of the assays in the trial is the morphometric imaging assay, which was previously shown to closely correlate skin cell abnormalities with dementia and the presence of AD pathology in the brains of patients with EA.
“Studies correlate what’s going on in a patient’s brain with what’s going on elsewhere,” Alkon said. “The inference is [que] the disease has a systemic expression; It doesn’t just affect the brain, it affects the entire system.”
In the current study, researchers obtained a small skin sample via a skin punch biopsy from 74 participants. Of these participants, 26 had AD, which was later confirmed after autopsy; 21 had dementia not AD (not ADD); and 27 did not have dementia and acted as a control group.
The researchers found that the AD cell lines formed large aggregates, while the cell samples from the control or non-ADD group formed smaller and more numerous aggregates. The researchers then counted the number of aggregates and measured the average area of the aggregates.
This led them to distinguish the patients with AD from those without ADD. The probability distributions of the morphometric imaging signals showed a clear separation of the measurements for patients individuals with AD and for group values for patients sin ADD.
The researchers also used samples of patients con dementia older than 55 years and who underwent a blind autopsy. The specificity of AD was maintained even in cases with pathological comorbidity, including AD with dementias such as Parkinson’s disease, Pick’s disease, and Alzheimer’s disease. dementia of the frontal lobe.
“What is new and unique is that we have shown that we can measure AD even in patients who have comorbidity, that is, patients who have these other dementias,” Alkon said.
Alkon pointed out that this type of research it is time consuming and requires “resources, persistence and determination”. An autopsy of death and confirmation can take place years after a skin test and a clinical diagnosis.
“Physicians should use all available measures in the arsenal that they can before making a diagnosis of Alzheimer’s disease. Alzheimerand they need to be thorough and cautious,” he added.
The company is currently seeking approval from the skin test by the US Food and Drug Administration (FDA), and has received breakthrough status.
The test may help rule out other causes of dementia for which there are treatments, such as a thyroid disorder, major depression and vitamin B12 deficiency, Alkon noted.
He acknowledged that if the test indicates AD, there are few effective treatments available. “In my opinion, none of the medications available today really treat the underlying disease,” she said.
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