PHASE – Promoting eHealth in cb Area by Stimulating local Economies

Cooperation Programme Interreg-IPA-CBC Italy-Albania-Montenegro 2014-2020. CUP B99E19000330006

THE INIZIATIVE
The PHASE project – “Promoting eHealth in cb Area by Stimulating Economy” – is a project financed under the INTERREG 2014-2020 Italy-Albania-Montenegro programme. It aims to stimulate the economic fabric of eHealth through awareness-raising and training actions, implementing the use of Information and Communications Technology (ICT). PHASE involves the design, testing and validation of three digital health pilot models: the 1st Dedicated to emergency/urgency medicine; the 2nd Dedicated to the territorial management of complex pathologies defined by PDTA and the 3rd Dedicated to the remote monitoring of chronic patients.

This collaboration agreement concerns the second pilot project, in particular the development and validation of a diagnostic-therapeutic-assistance path (PDTA) that uses ICT for neurodegenerative pathologies, to be tested at a cross-border level.
PDTAs represent clinical and organizational management tools aimed at responding to specific health needs. They are made with reference to recognized recommendations and are adapted to the local context according to organizational processes and available resources. They have a strong multidisciplinary value, seeing the involvement of different scientific, clinical and technological skills. In recent decades, ICT has acquired a role of primary importance in the development and implementation of PDTAs, helping to promote their adoption, monitoring and verification of results. According to scientific assessments and in accordance with interviews with the Albanian and Montenegrin partners of the PHASE project, patients affected by rare neurodegenerative diseases.

DISEASES OF THE PROJECT
Rare neurodegenerative diseases, such as Dementia with Lewy bodies (DLB), Frontotemporal dementia (FTD), and monogenic Alzheimer's disease (AD), are challenging to diagnose due to overlapping symptoms and the lack of specific biomarkers. Early and accurate diagnosis is crucial for patients, as it allows for appropriate treatment and support, and the planning of future care needs.

WHAT DOES RND-PHASE PLATFORM?
The RND-Phase platform provides a secure and reliable way to store clinical data of patients with rare neurodegenerative diseases. At the same time, this solution facilitates data sharing and the communication between healthcare providers and patients.

The RND-PHASE platform is configured to support data collection through the use of specific clinical forms, outlining clinical features characterizing each diagnosis under evaluation. In particular, each form gives the possibility to collect information concerning symptoms, behavioural and language alterations, cognitive impairments, medications and functional scales. Collected data can also exported in various formats in order to perform analysis and collaborate with other healthcare organizations.

The RND-PHASE platform also provides the opportunity to activate a tele-visit between patients and their referral neurologists. This feature can help patients in remote or rural areas who may not have access to healthcare facilities. Moreover, it can be used to monitor and manage symptoms of neurodegenerative diseases, such as tremors, speech difficulties, and memory loss.

FRONTO-TEMPORAL DEMENTIA

Frontotemporal Dementia (FTD) is a group of diseases that fall under the category of neurodegenerative disorders. These conditions are characterized by prominent changes in behavior and personality (behavioral variant FTD) and/or language difficulties (Primary Progressive Aphasia). FTD shares symptoms with other neurodegenerative diseases such as Amyotrophic Lateral Sclerosis, Progressive Supranuclear Palsy, and Corticobasal Syndrome, which makes it challenging to diagnose. The most noticeable symptoms include behavioral changes like lack of inhibition, apathy (loss of motivation), and neglect, as well as language loss. About 20% to 40% of people with FTD have a family history of dementia.

As the disease progresses, verbal communication becomes increasingly difficult due to severe language impairments, which can eventually lead to a complete inability to speak (mutism). The significant behavioral and personality changes have significant social and caregiving implications. In the later stages of the disease, FTD results in more severe cognitive decline, similar to other forms of cognitive deterioration. This includes difficulties with eating, respiratory complications from swallowing problems, and a significant loss of patient autonomy.

LEWY BODY DEMENTIA

Lewy body dementia is the third most common form of dementia. It typically begins around the age of 60. This condition is characterized by chronic cognitive decline caused by the presence of abnormal cellular inclusions called Lewy bodies in the cytoplasm of cortical neurons. Lewy bodies have also been found in the substantia nigra of patients with Parkinson's disease who develop dementia later in the course of the illness. Some experts believe that Lewy body dementia and Parkinson's dementia are caused by the same neurodegenerative process and are part of a more widespread disease affecting the central and peripheral nervous systems.

The most prominent symptoms in individuals with Lewy body dementia are cognitive decline, particularly in visuospatial and visuoconstructive abilities (such as drawing, estimating spatial relationships, and visual perception), memory deficits, attention problems, and difficulties in organizing tasks. Motor problems like stiffness and gait disturbances are also common. Visual hallucinations and fluctuations in mental state are frequently experienced. Sleep disturbances, including restless sleep, vivid dreams, violent movements of the arms and legs, and shouting, are also common. As the disease progresses, Lewy body dementia becomes more complex and disabling. The individual's ability to perform everyday tasks becomes increasingly impaired.

ALZHEIMER MONOGENIC

Monogenic Alzheimer's disease (AD) is a rare form of AD caused by specific gene mutations. It accounts for less than 1% of AD cases and typically has early onset. Symptoms are similar to sporadic AD, including memory loss and cognitive decline. Mutations in genes like APP, PSEN1, and PSEN2 are linked to monogenic AD.

The disease is characterized by the accumulation of plaques and tangles in the brain, leading to neuronal degeneration. Diagnosis involves genetic testing, and management focuses on symptomatic relief. Research continues for targeted therapies. Monogenic AD has a significant impact on individuals and families affected by it.

AMYOTROPHIC LATERAL SCLEROSIS

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurological disease that affects the motor neurons responsible for muscle control. It is the most common form of adult motor neuron diseases. ALS leads to muscle weakness, atrophy, and paralysis as the motor neurons degenerate. Common symptoms include difficulties with walking, swallowing, speech articulation, and breathing. ALS has a relentless course, typically resulting in a survival time of 2 to 5 years from symptom onset.
While there is no cure for ALS, supportive care aims to improve quality of life and manage symptoms. ALS has profound impacts on individuals, families, and caregivers. Research efforts continue to seek a better understanding of the disease and potential treatments.

YOUNG-ONSET ALZHEIMER'S DISEASE (AD)

Affects individuals under the age of 65, constituting 5% to 6% of all AD cases. While most instances are not associated with specific genetic mutations, approximately 11% of young-onset Alzheimer's cases can be attributed to mutations in genes such as APP, PSEN1, or PSEN2. Genetic testing is available but should be pursued with counseling to consider the potential implications. An accurate diagnosis of young-onset Alzheimer's is essential to rule out treatable causes, initiate appropriate treatment, and address the unique features of the disease in younger individuals.

A timely diagnosis helps individuals, and their families make crucial decisions regarding financial and legal matters and work-related adjustments. People with young-onset Alzheimer's may encounter challenges like social stigmas and skepticism due to their age, which can lead to misunderstandings about their condition. They may also face relationship and employment losses, as the disease can affect their ability to work and earn income. Support, understanding, and appropriate adjustments are vital for those with young-onset Alzheimer's to maintain their quality of life.

MANUAL AND VIDEO TUTORIAL

This project is co-financed by the European Union under the Instrument for Pre-Accession Assistance (IPA II)
This website has been produced with the financial assistance of the Interreg IPA CBC Italy-Albania-Montenegro Programme. The contents of this website are the sole responsibility of UNIVERSITY OF BARI and can under no circumstances be regarded as reflecting the position of the European Union and of the Interreg IPA CBC Italy-Albania-Montenegro Programme Authorities