An international research consortium, including scientists from Wroclaw Medical University, is investigating the long-term impact of the rare autoimmune brain condition anti-NMDAR encephalitis on the mental and social functioning of patients.
Anti-NMDAR (N-methyl-D-aspartate receptor) encephalitis is a rare autoimmune neurological disorder, estimated to affect around 1.5 people per million each year. In its acute phase, patients may experience psychosis, memory loss, seizures, autonomic dysfunction, or even coma. The disease most commonly affects young women aged 20–30 and is often associated with ovarian tumors (teratomas). Treatment typically lasts several months, with early diagnosis and immediate intervention being crucial for recovery.
The disease was first described 14 years ago by Josep Dalmau, who is also part of the international research team involved in the SAPIENCE project. The project aims to understand the long-term impact of anti-NMDAR encephalitis on patients and their caregivers. Among the researchers from more than 130 institutions across 35 countries are two scientists — Prof. Donata Kurpas and Dr. Marta Duda-Sikuła from Wroclaw Medical University.
“This is an ultra-rare disease, but it can affect anyone. Although its physiological mechanism has been well described, we still lack knowledge about the psychological and social consequences in the years following the acute phase,” notes Prof. Donata Kurpas.
The research focuses on how hospitalization, social exclusion, cognitive and emotional difficulties, and access to support influence patients’ quality of life. The findings will help develop care recommendations that consider variables such as differences in healthcare systems and time to proper treatment.
More Than Just the Patient
The SAPIENCE project stands out by combining general health assessment methods with an in-depth analysis of the personal experiences of individuals with autoimmune encephalitis. This approach allows for the creation of practical recommendations not only for patients but also for their immediate environment. The study involves “dyads”—pairs of patients and their caregivers—to capture mutual influences and the broader impact of the disease on relationships and daily life.
“The patient isn’t the only one affected—their whole environment is,” emphasizes Dr. Marta Duda-Sikuła.
She adds that loved ones often must put their own lives on hold to become full-time caregivers. While hospitalization may be brief, the recovery process can last a year or more, making it just as demanding as the diagnosis and treatment phases.
The SAPIENCE project uses qualitative methods, combining Patient-Reported Outcome Measures (PROMs) and Patient-Reported Experience Measures (PREMs). PROMs assess long-term health impacts reported by patients after NMDAR encephalitis, such as cognitive issues, chronic fatigue, and quality of life post-treatment. PREMs focus on patient experiences with the healthcare system, highlighting areas in need of improvement, such as communication with medical staff or support after discharge. Together, these perspectives provide a more comprehensive view of the disease’s impact.
Wider Benefits for Society
Research into rare diseases like anti-NMDAR encephalitis is vitally important, even though it affects relatively few individuals—on average, one to two per million per year. Despite its rarity, the disorder has severe consequences. During the acute phase, patients experience sudden disruptions to their personal, social, and professional lives, along with major cognitive disintegration and impaired psychological function, leading to a loss of logical thinking and coherent perception.
The SAPIENCE project offers substantial benefits for both patients and society. Despite its severity, anti-NMDAR encephalitis is largely reversible—with early diagnosis and proper treatment, up to 90–95% of patients can fully recover. Raising awareness, improving diagnosis, and developing more effective care pathways are therefore essential goals.
The research will help raise awareness among medical professionals and the public, leading to better diagnostics and more robust patient care strategies. As a result, more individuals affected by NMDAR encephalitis will have a chance for quicker recovery, and their caregivers will receive better support. This is a tangible step toward a more empathetic, equitable, and effective healthcare system.
Towards Change in Healthcare Systems
If the project is well received by patients and the feedback confirms a real impact on their quality of life, plans are in place to expand the study to other countries. This would allow researchers to examine cultural factors influencing disease experiences and compare healthcare systems globally. The long-term goal is to establish an international standard of care for NMDAR patients—one that is grounded in both medical knowledge and real patient needs.
“SAPIENCE is not just a study—it’s a global collaboration that can lead to meaningful changes in healthcare systems across many countries,” say the researchers from Wroclaw Medical University.
The project is led by Prof. Carsten Finke from Charité – Universitätsmedizin Berlin and Humboldt-University Berlin, a specialist in neuroimmunology and cognitive disorders. Funded by the European Joint Programme on Rare Diseases (with Poland’s National Centre for Research and Development as the intermediary institution), the project has a total budget of over €926 million, with €194,700 allocated to Wroclaw Medical University. The project is scheduled to conclude next year.
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