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Psychiatric Research

Pillar III

Research on Endophenotypes in Bipolar Affective Disorder for Suicide Prevention

Bipolar disorder affects approximately 1% of the global population, including hundreds of thousands of individuals in Hungary. As bipolar disorder is one of the primary causes of suicide, research into this condition holds significant social importance.

Besides assessing the genetic background that increases the risk of developing bipolar disorder, another potential approach is searching for endophenotypic markers. These markers reflect the neurobiological characteristics underlying the disease, are specific to the disorder, and clarify the neural developmental background of social cognitive disorders. Potential endophenotypes include structural and functional neuroanatomical differences, cognitive deficits, and developmental abnormalities such as minor physical anomalies. Minor physical anomalies are small, clinically and cosmetically insignificant errors of morphogenesis. Their significance lies in serving as sensitive physical indicators of early gestational disturbances in morphogenesis.

Over the past two decades, our research group has reported significant findings regarding the increased frequency of minor physical anomalies in endogenous psychoses and suggested their use for prognostic and diagnostic purposes. It has been hypothesized that social cognitive deficits may underlie the cognitive impairments observed in bipolar disorder. These findings support the importance of researching endophenotypes, as they may have prognostic value regarding social cognitive dysfunctions observed in bipolar disorder. Marker studies conducted among relatives may help identify specific endophenotypes.

Our first hypothesis suggests that relatives of bipolar patients have a significantly higher prevalence of minor physical anomalies and more severe social cognitive deficits compared to the general population, supporting the neurodevelopmental background of altered social cognitive functions in bipolar disorder. Our second hypothesis posits that the severity of social cognitive impairments correlates with structural and functional brain abnormalities, indicating that neurodevelopmental disturbances underlie impaired social cognitive functions in bipolar disorder. The third hypothesis proposes that there will be a distinct marker profile observed among relatives of bipolar patients depending on their history of suicide.

Beyond assessing the neurodevelopmental background and endophenotype profile of bipolar affective disorder, identifying endophenotypic markers characteristic of the disorder may enable the creation of a neurobiological marker profile that can also be used to assess suicide risk. This would pave the way for developing effective suicide prevention strategies.

Exploring Opportunities to Improve Drug Application and Therapeutic Strategies Based on Real-World Data and Analyses in Psychiatric Patients

In developed countries, the number of patients diagnosed with various psychiatric disorders is steadily increasing. However, the therapeutic success of pharmacotherapy, or in many cases its failure, raises numerous questions, while the risk of adverse effects remains notably high. This poses a significant challenge for healthcare and society, necessitating new, efficient data collection and research methods.

With the rapid spread of increasingly digitized healthcare, the utilization of real-world data is gaining ground in assessing therapeutic outcomes for the entire patient population, improving therapeutic procedures, reducing adverse drug reactions and events, and enhancing patient recruitment rates in human clinical research. In healthcare, "data-driven innovation" plays an increasingly important role, particularly in drug development and patient care.

Today, clinical research increasingly utilizes real-world data sources rather than relying solely on data collected for research purposes. The primary advantage of these studies is their comprehensive coverage of patient and study populations, far exceeding that of traditional human clinical research or targeted patient group data collection.

Our research group, specializing in the analysis of real-world data, has revealed in recent years that the proportion of patients with schizophrenia and psychosis who refill antipsychotic prescriptions has been declining year by year, and over a seven-year period, a quarter of patients disappeared from the healthcare system. In another study, we analyzed the correlation between the frequency of medication refills and the number of hospitalizations in the entire Hungarian population concerning bipolar affective disorder.

Our research demonstrated that real-world data studies have substantial importance in uncovering previously unknown correlations between drug use and therapeutic outcomes, significantly enhancing the effectiveness of clinical pharmacotherapy.

Through our work within the TINL framework, we aim to uncover new, previously unknown relationships during "routine" drug applications, improve the effectiveness of daily drug use, reposition the utilization of specific drugs, increase the success rate of human clinical trials, identify previously unknown effects, and support the implementation of academic and commercial trials in line with "adaptive licensing/pathways" requirements.

Our ongoing work related to documenting clinical drug applications based on the above considerations can be followed on our online workspace. The result of our development within TINL is the "Data Standardisation in Medication" development concept description, for which the know-how and voluntary registration are currently in progress.