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Research Project

Actionable Aspects Towards Disease modification – Proposal for a holistic treatment concept for patients with AATD

Principal Investigator:
Franziska Trudzinski
Thoraxklinik University of Heidelberg
Heidelberg (Germany)
Start date:
May 2, 2024
Contact E-mail:
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Alpha-1-antitrypsin deficiency (AATD) is a heterogeneous disease that affects more than just the lungs and, like all chronic diseases, is associated with a particular psychological burden for those affected. Lung diseases associated with AATD include early-onset emphysema, asthma and bronchiectasis. There is also an increased risk of developing liver disease, the diagnosis of which is becoming increasingly important as specific treatment options are at an advanced stage of development. Other manifestations of AAT affect the skin and kidneys, so patients require a multidisciplinary approach to diagnosis and treatment.



The aim of the project is to jointly define various relevant and actionable (treatable) aspects of Towards Disease Modification in AATD in a group of experts, young scientists and Patient representatives to agree on possible therapeutic approaches and specific treatment pathways for each of these aspects.

Inclusion criteria


Brief summary

Firstly, the different pathways need to be defined; the final selection of the different AAS has to be agreed by all participants.  In a second step, working groups are formed to carry out a systematic literature review and develop recommendations, which are then voted on by the whole group using the Delphi method. The results are to be summarised in an overview article which, in addition to short, concrete instructions for medical practice, will also contain a structured graphic presentation of the topic for use in educational meetings for physicians and those affected.