Marion Wilkens, as appeared in Alpha1 Journal 1/2025.

CALM-QE stands for „COPD and Asthma: longitudinal and cross-sectoral Real-World data for machine learning application for quality improvement and knowledge acquisition“.

This nationwide project is developing AI models that, using real-world data (routine healthcare data), enable deeper insights and better prediction of individual disease progression in COPD and asthma. The goal is to make treatment decisions more targeted and tailored to each patient.

The project is funded by the Federal Ministry of Education and Research (BMBF) as part of the Medical Informatics Initiative.

The relevance of the study stems from the following three pillars:

1) Data collection: CALM-QE analyzes data from numerous patients and evaluates it using specialized computer systems. Twelve university hospitals contribute data from outpatient and inpatient care and make it available for collaborative research. Data from surrounding practices are also included. This reveals the wide variety of clinical presentations, including rare forms such as those that can occur in alpha-1 antitrypsin deficiency.

2) Numerous influencing factors: In addition to clinical data, environmental factors such as air quality, climate, or even smartwatch measurements (e.g., oxygen saturation, pulse, sleep patterns) are included. Such variability helps to identify individual risk profiles – including those for Alpha-1 – at an early stage.

3) Personalized medicine: The generated models are intended to help predict exacerbations and guide therapies more precisely. This could significantly improve the quality of life, especially for Alpha-1 patients, who more frequently experience atypical disease courses.

As a patient representative in the CALM-QE consortium, I directly contribute the perspectives and needs of people with COPD, asthma, and alpha-1 diabetic nephropathy to the project. My primary task is to ensure that even rare patient groups like ours are included in the data and that relevant patient questions are addressed – for example, the impact of environmental factors on exacerbations. I also help to present study content and results in a way that is understandable and accessible to patients.

Marion Wilkens, as appeared in Alpha1 Journal 1/2025.

Individual approaches to the treatment of chronic obstructive pulmonary disease (COPD)

COPD – these four letters stand for one of the most underestimated widespread diseases in Germany: chronic obstructive pulmonary disease. It is estimated that about one in nine people over 40 in Germany suffers from the disease – many without knowing it. People over 65 are particularly affected. Typical symptoms of COPD include chronic cough, shortness of breath, and increasing fatigue. The disease progresses slowly, is currently incurable, and in many cases leads to a significant reduction in quality of life. A specific form of COPD is the so-called alpha-1 antitrypsin deficiency – a genetically determined cause that often goes undetected.

COPD – a complex challenge

The causes of COPD are manifold. Smoking is considered the most important risk factor, but environmental pollutants such as particulate matter or certain occupational exposures also play a role. Genetic predisposition and immunological factors are additional contributing factors. Other diseases often occur simultaneously – such as cardiovascular problems, diabetes, or mental health issues. These comorbidities make diagnosis and treatment more complex and often complicate targeted therapy.

A new approach: PerMed-COPD

This is precisely where the PerMed-COPD clinical platform, supported by the Federal Ministry of Education and Research, comes in. Its goal: the development of a so-called clinical decision support system (CDSS) that assists physicians in choosing the optimal, individually tailored therapy.

The system is based on state-of-the-art artificial intelligence (AI) and accesses a wide range of health data – including lung function, lab results, comorbidities, and lifestyle factors. From this information, the CDSS develops specific therapy recommendations tailored to the individual needs of each patient. For example, a different treatment will be recommended for a person with concomitant heart failure than for a person with psychological stress or metabolic problems.

Researching together – benefiting together

The patient perspective is an integral part of the project. The patient organization Alpha1 Germany e. V. actively participates in its development and implementation. As a representative, I contribute important insights – for example, on how to communicate information clearly and what the actual needs of those affected are in everyday life. However, I first had to learn to ask questions when I didn't understand something, and it was precisely through these questions that new insights often emerged. We patients see things differently – and that's exactly what helps the researchers.

Marion Wilkens, as appeared in Alpha1 Journal 1/2025.

Alpha-1 antitrypsin deficiency (AATD) is a rare, inherited disorder that can primarily affect the lungs and liver. Affected individuals often develop chronic obstructive pulmonary disease (COPD) or liver problems – sometimes at a young age. To ensure that treatment is tailored as closely as possible to the patients' needs, it is crucial to understand their true well-being: physically, mentally, and in their daily lives. The goal of the PROM (Patient Reported Outcome Measures) project was to develop a questionnaire to assess quality of life from the perspective of those affected.

Instead of developing a completely new questionnaire, the researchers searched over 1200 scientific articles and examined over 400 existing questionnaires. Crucially, the questionnaires had to be simple and easy to understand, cover important aspects of the disease (general, lung- and liver-specific), be available in German, and be suitable for both studies and daily practice.

Following a multi-stage selection process involving experts and patient representatives, a combined questionnaire was developed, also known as ALPHA (Assessment of Lung, Liver and Patient Health in Alpha-1). It consists primarily of three established questionnaires:

1. EQ-5D-5L (EuroQol 5 Dimensions 5 Levels): Assesses general quality of life – e.g., mobility, pain, mood
2. CAT (COPD Assessment Test): Refers to the lungs – e.g., cough, shortness of breath, energy levels.
3. CLDQ (Chronic Liver Disease Questionnaire): Relates to the liver – e.g., fatigue, abdominal discomfort, worries about the course of the disease.

Alpha1 Germany eV.

At the congress of the German Society for Pneumology (DGP), Alpha1 Germany e. V. conducted an interview with Dr. Christoph Fisser, spokesperson for YoungDGP and senior physician at the University Hospital of Regensburg. The interview focused on key questions: Dr. Fisser's first encounter with alpha-1 antitrypsin deficiency, the importance of rare diseases in medical education, YoungDGP initiatives to inspire students to study pulmonology, and the valuable exchange between pulmonologists and patient organizations.

Dr. Fisser emphasized the role of the younger generation in medical research and innovation. "Young people provide the crucial input because they bring new ideas and often think 'outside the box'."„

These perspectives not only highlight the current challenges, but also the vibrant dynamics in pulmonology, driven by young medical professionals.

Alpha1 Germany would like to thank Dr. Fisser for his commitment and his willingness to give an interview.

Learn more about YoungDGP.

Alpha1 Germany eV.

In a video of German Respiratory League e. V., Recorded during the 2024 DGP Congress at the Rosengarten in Mannheim, Prof. Dr. Rembert Koczulla provides an update on the progress in the detection and research of alpha-1 antitrypsin deficiency. The interview highlights, among other things, the importance of awareness programs and the significance of early detection of alpha-1 in clinical practice.

The video not only offers insights into current scientific discussions but also provides impressions of the DGP Congress and the topics covered there. It's an opportunity to gain valuable first-hand knowledge and learn about the latest developments in the field of respiratory diseases.