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Effective use of markers in Alzheimer’s diagnosis

The European recommendations published in Lancet Neurology

16 February 2024

Professor Federica Agosta of IRCCS Ospedale San Raffaele and Vita-Salute San Raffaele University is among the 22 international experts who drafted the guidelines

A multidisciplinary working group of 22 experts from 11 European scientific societies has joined forces to define recommendations for the effective use of biomarkers in the diagnosis of Alzheimer's disease. Putting the patient at the center of physicians' diagnostic considerations, rather than the disease or diagnostic test, represents a breakthrough from current approaches. The consensus, just been published in Lancet Neurology, was coordinated by a team from the University Hospitals of Geneva (HUG), the University of Geneva (UNIGE), and the Fatebenefratelli National Alzheimer's Disease Research Center of Brescia (IRCCS).

A personalized diagnostic pathway for early detection of Alzheimer's disease

Experts from 11 European scientific societies and organizations and a patient association (Alzheimer Europe) have collaborated to define a diagnostic path based on the profile of symptoms manifested by each individual patient to correctly identify the person with Alzheimer's disease and distinguish it from other neurodegenerative diseases. The algorithm is easily implemented in clinical centers for cognitive impairment and provides a highly reliable diagnosis.

The diagnostic path was developed based on scientific literature and the practical experience of specialists. After examining the patient's complaints and performing cognitive tests and a brain MRI, the specialist can use these recommendations to classify the case from 11 possible combinations of clinical manifestations and then test for appropriate biomarkers using tests recommended by international experts: lumbar puncture, amyloid PET, fluorodeoxyglucose PET, DAT-SCAN, MIBG SPECT and tau PET.

Overcoming the biomarker-centered approach

The goal of the diagnostic pathway is to overcome the current limitations of recommendations and guidelines related to the diagnosis of Alzheimer's disease. These focus primarily on the disease itself or biomarkers, rather than on the affected person. Although previous guidelines were developed to help physicians use the correct diagnostic tests, they have shortcomings when applied in clinical practice. In fact, most of these recommendations do not take into account the many diagnostic options available or the existence of different tests that can be performed simultaneously or sequentially. Moreover, those that do often reflect only the opinion of unrepresentative expert groups. Consequently, in clinical practice, the choice of biomarker is often influenced more by organizational and logistical considerations than by clinical factors.

The new guidelines published in Lancet Neurology

“To reach this consensus, we specialists were asked to evaluate and compare the efficacy of one examination versus another in various clinical situations, using the Delphi participatory approach. The discussion involved the participation of professionals with different expertise, and the recommendations were written only after reaching at least 70% consensus among us” states Professor Federica Agosta, associate professor of Neurology at Vita-Salute San Raffaele University and head of the Neuroimaging of Neurodegenerative Diseases Research Unit at IRCCS Ospedale San Raffaele. She continues: "These guidelines represent a fundamental step toward a more precise and personalized diagnosis of Alzheimer's disease, which will not only improve the quality of care, but also allow a more efficient management of healthcare resources. It is a shift in perspective that could make a difference in the lives of millions of people affected by this debilitating disease, also considering the possible imminent arrival of disease-modifying drugs."

Next steps

Combining the expertise and experience of leading specialists on the international scene has resulted in the establishment of a reference standard that will be useful to all physicians in Europe.

In terms of the study, the next step will be to incorporate blood biomarkers into the decision tree. Currently, they are only available for research purposes and are in the process of being approved for clinical use. In the future, they could allow up to 70% of invasive examinations such as lumbar puncture and PET scan to be avoided, thus helping to reduce costs and expand diagnosis in the general population.

Alzheimer's disease and the CARD center at San Raffaele Hospital

Alzheimer's disease is a progressive neurological condition that affects brain functions, particularly cognitive functions including memory. At the pathological level, it is characterized by the accumulation of abnormal protein structures in the brain, called beta-amyloid plaques and tau tangles. About 1 million people in Italy are affected by Alzheimer's disease.

Since last year, CARD, the new Center for the Prevention, Diagnosis and Treatment of Alzheimer's Disease, directed by Professor Massimo Filippi, head of the Neurology Unit, Neurophysiology Service and Neurorehabilitation Unit at IRCCS Ospedale San Raffaele and professor of Neurology at Vita-Salute San Raffaele University, has been active at IRCCS Ospedale San Raffaele, whose goal is the all-round care of the patient, through the assessment of clinical, behavioral and environmental risk factors, the formulation of accurate and early diagnosis, treatment with innovative therapies and monitoring of disease progression.

There is currently no definitive cure for Alzheimer's disease, but several treatments are available to help manage symptoms and slow its progression. Says Professor Massimo Filippi, "As of 2021, several anti-amyloid antibodies have been approved in the US and are being approved in Europe for the treatment of the disease (recall Lecanemab and Donanemab). Antibodies have been shown to be effective in removing brain amyloid and significantly slowing the progression of cognitive symptoms. In addition, our Center is at the forefront of research into new therapies. In fact, we are conducting several clinical protocols dedicated to testing other disease-modifying drugs, including anti-tau oligonucleotides, with the goal of advancing the fight against this disease".

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