Artificial intelligence detects first patients with rare neurological disease. Danny Platform enables screening and early diagnosis for high-risk patients

Interview with Prof. Milanov and Prof. Bogdanova, published in Kapital Health, December 2022

Prof. Milanov Prof. Milanov

Prof. Dr. Ivan Milanov, Ph.D., is the Executive Director of the University Hospital for Active Treatment in Neurology and Psychiatry “St. Naum”, Sofia. He has a clinical specialty in neurology, social medicine, and health management, specialized in movement disorders at the University of Kansas – USA, and specialized in headache treatment at the University of Pavia – Italy. He is responsible for popularizing the diagnosis and treatment of neurological diseases among neurologists and doctors outside the neurological society, as well as among the Bulgarian public through numerous scientific publications at home and abroad.

Professor Milanov, why is it important to introduce new digital solutions for data analysis in your hospital?
The future is in a Europe without borders in medicine, a Europe of the exchange of scientific information, knowledge, of data. This cannot happen in practice without new technologies. On the other hand, new technologies are useless if they do not support the patient’s journey, and if they are not part of the overall solution to the problems. Digitalization cannot happen without medical professionals. Our aim, as professionals are, to develop and prepare them for the future. In general, we are changing the way of thinking in healthcare, both for medical professionals, patients, and for institutions.

How can we speed up this process?
By supporting healthcare innovators! Our task is to give innovative companies access to real clinical practice so that we can be mutually beneficial. On one hand, to improve our daily work, and on the other hand, to develop and improve the innovative solutions of the companies. All of this has one big goal – to help our patients, and the news of the last few days proves it. Sqilline’s technology now gave two patients diagnosed with a rare neurological disease a chance to receive the best possible care.

Prof. Bogdanova
Prof. Bogdanova

Prof. Dr. Desislava Bogdanova, MD, Head of the Clinic for Neurodegenerative and Peripheral Nerve Diseases at the “St. Naum”, Sofia. She is a specialist in neurology with many years of experience and clinical practice in headache, pain, movement disorders, clinical electromyography, training, and scientific activity in neurology and neurophysiology. She has done over 50 scientific publications.

Prof. Bogdanova, how does the discovery of this rare disease change the life of the patient and his relatives?
Diagnosis is often delayed by years, usually, patients are first treated unsuccessfully for another disease, other organs are affected, the duration of the disease is long, and the condition in the advanced stage is very severe. Therefore, patients with transthyretin familial amyloid polyneuropathy suffer from deterioration in all aspects of quality of life – in terms of daily life, self-care, professional activity, sleep, social communication, leisure, etc. They often worry and feel guilty about possibly passing the disease on to their children and grandchildren.
On the other hand, asymptomatic carriers and relatives of patients have more anxiety and depression – both because of caring for the sick person and because of the quite understandable fear of inheritance.

In what other diseases do you see an opportunity for new digital data analytics technologies to support your work?
Early identification would lead to early diagnosis and timely initiation of treatment before irreversible and fatal cardiac, hepatic, and neurological changes occur.
The analytical approach offers opportunities for screening, targeted testing, and confirmation of the diagnosis in at-risk patients with the goal of timely initiation of treatment. It is easy, fast, and applicable to a number of diseases with a combination of symptoms that are difficult to recognize in routine practice – for example, rare hereditary diseases – lysosomal, neuromuscular, neurodegenerative. For many of these, treatment options are being developed or are already available, and it is very important to begin treatment before the patient is severely disabled.

Sqilline Danny Platform
Sqilline and a leading pharmaceutical company have partnered to apply an AI algorithm and track high-risk patients for the rare disease of Transthyretin amyloid polyneuropathy (TTR).
For this project, Danny Platform, a technological solution for the collection, processing, and analysis of real-world data, evaluated several thousand electronic health records according to carefully pre-defined inclusion/exclusion criteria in order to detect possible undiagnosed patients. The proprietary algorithm identifies a cohort of high-risk patients, which neurologists discuss and examine further to make the final diagnosis.

Transthyretin familial amyloid polyneuropathy is a rare disease caused by mutations in the gene encoding transthyretin and characterized by multisystemic extracellular deposition of amyloid, leading to dysfunction of various organs and tissues. Amyloidosis in this disease presents a diagnostic challenge for neurologists because of the wide variability in clinical presentation and multiorgan involvement. Available therapeutic options can increase survival at different stages of the disease.

Danny Platform is a trademark of Sqilline

Danny Platform is a trademark of Sqilline

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