Author
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:
- EQ-5D-5L (EuroQol 5 Dimensions 5 Levels): Assesses general quality of life – e.g., mobility, pain, mood
- CAT (COPD Assessment Test): Refers to the lungs – e.g., cough, shortness of breath, energy levels.
- CLDQ (Chronic Liver Disease Questionnaire): Relates to the liver – e.g., fatigue, abdominal discomfort, worries about the course of the disease.
Some of our members recently tested and supplemented the questionnaire, thereby significantly contributing to its quality.
The questionnaire was supplemented by additional questions that specifically address areas of life that are not adequately covered in the three standardized questionnaires.
Some of our members tested and improved the questionnaire some time ago, thereby significantly contributing to its quality. The ALPHA questionnaire was subsequently tested for everyday usability and validity in specialized centers.
The new instrument enables a comprehensive yet time-efficient assessment of quality of life in patients with ADD/ADHD. This allows physicians to better understand their patients' symptoms and needs and tailor treatment more effectively. Furthermore, the questionnaire can help to better evaluate therapies in clinical trials. The goal is to implement ALPHA in the future care and research of patients with ADD/ADHD.
We, the project team, believe that the PROM project makes an important contribution to improving care for AATM – by focusing more on what those affected themselves say about their health. They are the experts on their condition, and being heard makes a holistic approach possible.
