Research and studies

An overview of all ongoing clinical trials in the EU is now available on a website of the European Medicines Agency (EMA), in all European languages. The German page can be accessed at [link to German page]. https://euclinicaltrials.eu/search-for-clinical-trials/?lang=de. In the search field that appears, you must enter the disease of interest (e.g., alpha-1 antitrypsin) and start the search. All ongoing studies will then be displayed (unfortunately, these are not yet translated into German). By clicking on the relevant studies, you will be taken to pages containing all the relevant information. If you are interested in participating, you should first check whether patients are being recruited in Germany at all, and then whether you meet all the inclusion criteria and none of the exclusion criteria. If all these criteria apply, you can express your interest in participating by email to a study center. Independent of this EMA website, Alpha1 Germany will continue to provide information about the most important studies here in the form of short articles.

A more elegant way to access the list of studies than the keyword search described above is offered by the tool provided by the EMA. interactive map of Europe.

An even simpler (because it is already organized by disease) and also partially German-language access to clinical trials is offered https://klinischestudien.de. Please note that the link to register for a clinical trial leads to the operator of the website, not to the study center of the study in question!

Here you will find many more calls for studies:

To the search mask of National Library of Medicine.

Current studies of Thorax Clinic Heidelberg for COPD.

A notice:

Many of the scientific texts and links are in English. Therefore, we can offer you the following translation aid: Free translator from DEEPL I highly recommend it.

Below you will find the latest articles from the 'Research and Studies' section. The reports and calls for participation in clinical trials are for informational purposes only and do not constitute a recommendation to participate.

Reports and calls for participation in clinical trials are for informational purposes only and do not constitute a recommendation to participate. If you have any questions about participating, always consult your doctor or another qualified healthcare professional before making your personal decision.

Research and studies

Vier männliche Personen stehen auf einer Bühne und empfangen einen Preis.

New research on Alpha-1: Congratulations to Dr. Andreas Hoheisel for the 2025 research award!

November 18, 2025

A person holds a tablet displaying a presentation titled "DNA and RNA Edition" by Marina Bouscharain, with logos of CNRS, Inserm, Université de Bordeaux, and BRIC visible.

DNA and RNA interventions for the treatment of alpha-1 antitrypsin deficiency

November 18, 2025

CALM-QE Multidimensionale Asthma & COPD Forschungsmodelle basierend auf KI sowie Machine Learning

CALM‑QE – Artificial intelligence for a better understanding of asthma and COPD

September 22, 2025

PerMed-COPD – Patients at the Center of Research

September 22, 2025

Mit dem PROM Projekt soll ein Fragebogen für Alpha-1 Betroffene entwickelt werden, der die Lebensqualität realistisch erfasst.

ALPHA – The new patient questionnaire for assessing quality of life in alpha-1 antitrypsin deficiency

September 22, 2025

WAVE Life Science has presented the first, very encouraging results of the Phase 1 and 2 clinical trials announced below, as Press release and in great detail within the framework of Investors conference. According to the report, an RNA-based intervention administered via subcutaneous injections has successfully stimulated the production of healthy M-AATs and reduced the production of the clumping-prone Z-AAT in patients with ZZ. This should improve lung protection and help clear liver deposits. No concerning side effects have been observed to date. In one participant who developed an infection unrelated to the trial medication, it was demonstrated that the release of healthy M-AATs increased as expected and desired during the inflammatory phase.
Participation in a study investigating psychological stress and quality of life in individuals with COPD due to alpha-1 antitrypsin deficiency (AATD)
After the successful completion of the first COSYCONET study There is now a follow-up study called COSYCONET-2, which also addresses the effects of COPD (including in patients with alpha-1 antitrypsin deficiency). Further information and participation requirements can be found [here/on the website]. here:
Wave Life Sciences announces the approval of the first clinical trial application for the RestorAATion-2 study of WVE-006 in individuals with Alpha-1 Antitrypsin Deficiency (AATD).
RestorAATion-2 is an open-label, phase 1b/2a study to evaluate the safety, tolerability, pharmacodynamics (PD) and pharmacokinetics (PK) of WVE-006 in individuals with AATD who have the homozygous Pi*ZZ mutation.
Currently (as of mid-2025), participants are also being recruited in Germany for this clinical trial.
You can find more information here. here.

The Arrowhead Pharmaceuticals study mentioned further down in this compilation is entering its next phase: after the long-established Japanese pharmaceutical company Takeda acquired the rights to the liver medication Fazirsiran and renamed the active ingredient TAK-999, the pool of potential participants for the Phase 3 drug trial is now being significantly expanded. In Germany, participation in this study, named Redwood, will be possible at three different clinical sites. Further details about the study and, in particular, the opportunities for participation can be found [here/on the website]. here.
New observational study by CSL Behring for patients in home self-therapy
Trainability of physical performance in COPD patients with alpha-1 antitrypsin deficiency – study participants wanted
Patients with repeatedly elevated liver enzyme levels and/or other indications of liver disease are being sought!
Opportunity to participate in various studies on rare diseases
Arrowhead Pharmaceuticals administers ARO-AAT to first patient in SEQUOIA Phase 2/3 trial for the treatment of Alpha-1 liver disease

Approximately 1 in 1,000 patients with alpha-1 antitrypsin deficiency suffers from panniculitis, an inflammation of the subcutaneous fat tissue. A new study with 41 participants compiles the results of a survey covering symptoms, diagnosis, finding a doctor, quality of life, and treatment. The authors believe significant improvements are needed in all four of these latter aspects. You can find the study here. here.
New research findings from Heidelberg University Hospital, among others, challenge the previously prevailing view that emphysema in patients with alpha-1 antitrypsin deficiency (AATD) primarily manifests in the lower lobes of the lungs: refined computed tomography methods have demonstrated that, particularly in rare AATD mutations with mildly to moderately reduced serum AAT levels, emphysema also occurs, or is even more pronounced, in the higher lung regions. Under this link The full study is available for viewing.
A comprehensive study on the effects of COPD (including in patients with alpha-1 antitrypsin deficiency) was conducted under the name COSYCONET. A summary of the results can be found here. here
The study Impact of COPD on mortality: An 8-year observational retrospective healthcare claims database cohort study Under the leadership of Prof. Vogelmeier, the article illustrates the impact of COPD on mortality risk and underscores the need for consistent COPD management, including the assessment and treatment of exacerbations. It also emphasizes the necessity of consistent use of prescribed medications.
Current Phase III study on Dupilumate has confirmed the results of a previous study: Dupilumab, a monoclonal antibody, can reduce the exacerbation rate in COPD and improve lung function in some COPD patients (with type 2 inflammation with many eosinophils).
With dupilumab, moderate and severe exacerbations decreased by 34 percent. Lung function (especially FEV1) also improved significantly.
A systematic literature review on rare variants of alpha-1 antitrypsin deficiency was presented in Orphanet J Rare Dis. 2024; 19: 82., Published online 2024 Feb 22. doi: 10.1186/s13023-024-03069-1, PMCID: PMC10885523, PMID: 38388492.Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review
The authors Ilaria Ferrarotti, Marion Wencker and Joanna Chorostowska-Wynimko show that AATD extends far beyond the Z and S variants, and the article again suggests that patients with this disease are frequently underdiagnosed.

Figure 2, which shows the variants reported in Europe, is particularly noteworthy. Each geographical region has its own characteristic diversity of AATD variants. Therefore, comprehensive testing is needed to fully understand the actual number and nature of the variants present. Comprehensive testing is also necessary to ensure accurate diagnosis, optimize treatment strategies, and improve outcomes for patients with AATD.
In a study published in 1999 from Sweden on patients with chronic liver disease entitled The prevalence of gallstones in chronic liver disease is related to degree of liver dysfunction It was found that carriers of the PI*MZ allele had a five times higher incidence of gallstones than non-carriers. The authors merely conclude that the risk of gallstones is increased in MZ carriers, but make no statements about a possible mechanism of gallstone formation.
The study Genome-wide association meta-analysis yields 20 loci associated with gallstone disease A 2018 study analyzing over 27,000 cases of gallstones in biobanks from Iceland and the United Kingdom demonstrated that the risk of developing gallstones is significantly higher in individuals with alpha-1 antitrypsin deficiency (AATD) of the PI*MZ type than in those without this gene mutation. The authors hypothesize that the accumulation of AAT in liver cells leads to liver dysfunction, which predisposes individuals to gallstones.
The article "Systemic Modified Messenger RNA as Replacement Therapy for Alpha-1 Antitrypsin Deficiency" was published on ResearchGate in 2020. Firstly, it demonstrated the delivery of mRNA to primary human hepatocytes in culture. Secondly, it showed that the delivered mRNA is correctly translated into AAT protein by the cellular machinery.
The study, published in 2022 Hepatobiliary phenotypes of adults with alpha-1 antitrypsin deficiencyIt defines the phenotypes affecting the liver, gallbladder, and bile ducts in alpha-1 deficiency and indicates their susceptibility to, among other things, gallstones and liver tumors. This is intended to enable better counseling and monitoring of patients.
An international study, A study published in August 2021 by the COPD Foundation in the USA clarifies that serum levels are not always conclusive, as they can more than double during inflammation, infection, or injury, and people with PiMZ or PiMS can have serum levels similar to those of healthy individuals (PiMM). Therefore, the authors always recommend additional genetic testing in all suspected cases.
Alpha-1 antitrypsin: Current research findings, Prof. Sabina Janciauskiene
In March 2021, a 19-item survey was sent to 420 patients with AATD who were being treated with AAT replacement therapy (Prolastin) and participating in the German AlphaCare patient program. Results were published in the journal Pneumologie on June 20, 2022:„Impact of the COVID-19 pandemic on information management and adherence to AAT replacement therapy in patients with alpha-1 antitrypsin deficiency (AATD)“Authors: Thomas Köhnlein, Marion Wilkens, Katharina Eydt
Comparative biochemical efficacy analysis of an alpha-1 proteinase inhibitor (Glassia®) in patients with alpha-1 antitrypsin deficiency, taking 45 minutes. The process is painless and requires only a small prick, just like a regular blood draw. Published in Pulmonary Pharmacology & Therapeutics, March 2022.
Two augmentation therapies show similar efficacy in AATD. Published in RareDiseaseAdvisor, April 2022.
The University of Ulm discovers that alpha-1 antitrypsin weakens the coronavirus: University News – University of Ulm
Vertex Pharmaceuticals has announced, that it is halting the study and ending the development of the drug based on early data from its Phase II trial of VX-814 in Alpha-1 Antitrypsin Deficiency (AATD).
How vitamin D can reduce COPD symptoms (See our newsletter 2/2018): Experts the Queen Mary University of London They find that vitamin D can alleviate the symptoms of lung disease, but first it should be ensured that one's own body needs more of the mineral due to a deficiency..(Note: The source is in English; the following online translator is recommended:) DeppL).
Data from Sweden show that the prevalence of liver disease in adult PiZZ patients is 10%. Age over 50 years, male sex, repeated elevated liver enzymes, hepatitis, and the presence of diabetes mellitus are risk factors for the development of liver disease. (Note: The source is in English; the following online translator is recommended:) DeppL).
A study in America also confirms the benefit of using FibroScan® to screen for significant liver fibrosis. Patients at increased risk of developing liver complications in the future are identified early and benefit from more precise monitoring. (Note: The source is in English; the following online translator is recommended:) DeppL).
High prevalence of α-1-antitrypsin heterozygosity in Children with chronic liver disease

Innovation in the field of inhalation therapies – Or: How can digital solutions support us in the treatment of respiratory diseases?

The Alpha-1 Foundation in the USA continuously supports research into new therapies for Alpha-1 antitrypsin deficiency. Here Individuals and organizations can apply for research funding.

The research project “ is being conducted at the universities of Heidelberg and Mannheim.“NEW_LIVES”The project, funded by the Federal Ministry of Education and Research (BMBF), includes an online survey on "Genomic Newborn Screening".
Evaluations of the online survey for patients with non-tuberculous mycobacterial lung disease (NTM-LD) in Europe (ENPADE), European NTM lung disease Patient Disease Experience survey. Here are the survey results.
Are you having difficulty receiving your treatment? A survey by EURORDIS Rare Diseases Europe. Click here to take the survey.
Evaluation of the questionnaires on the topic Health maintenance in individuals affected by Alpha-1 on the occasion of the 2018 general meeting in Göttingen. The survey results are available for download.
Evaluation of the questionnaires on the topic Relatives of Alpha-1 patients on the occasion of the 2017 general meeting in Göttingen. Here are the survey results.
Evaluation of the questionnaires on the topic Alpha1 Journal on the occasion of the members' meeting in Bremen in 2016. Here are the survey results.

AATD in Turkey: Two studies examined patients with severe respiratory illnesses in major Turkish hospitals for alpha-1 antitrypsin deficiency (AATD), which was subsequently diagnosed in 4–51 TP3T of the cases studied. The Z and S mutations, which are most common in Central Europe, play a significantly lesser role in Turkish patients; the Mmalton mutation and other mutations that are rare elsewhere are dominant. The Z and Mmalton mutations do not differ in terms of symptom burden; see also the next report in this section. The prevalence of AATD in Turkey remains unknown, but the Black Sea coastal region appears to be more affected than the Mediterranean coast. The original studies can be found [here/on the website]. here and here (Editor's note: the results described are of course also relevant for people of Turkish origin living in Germany).
Characterization of the Mmalton carrier's cohort within the EARCO (European Alpha-1 Antitrypsin Research Collaboration) registry:

Only 2.8% of the Alpha-1 patients recorded in the EARCO registry have the genotype PI*Mmalton. A comparative analysis of the lung-related symptom burden in patients with this very rare genotype revealed that, in the homozygous form and in heterozygous combination with another critical variant such as PI*Z, it is similarly pronounced as in patients with the PI*ZZ variant. In combination with a less critical variant such as PI*S, the lung-related symptom burden is lower. There were no differences between the compared groups with regard to liver stiffness and liver enzyme levels in the blood. The authors conclude that genotype-adapted therapy management is necessary. You can find the original report here. here download.
Alpha-1 antitrypsin deficiency and risk and lung cancer: A systematic review. An analysis of six studies with a total of 4,038 lung cancer patients, published in November 2020, suggests that AATM may increase the risk of developing lung cancer, particularly the histological types squamous cell carcinoma and adenocarcinoma. Further studies are needed to confirm these findings. In the European Respiratory journal In 2022, an article was published whose findings suggest that individuals with severe alpha-1 antitrypsin deficiency have an increased risk of developing liver cancer and other cancers compared to the general population.
Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project shows the risk of lung disease in the PI*SS genotype. The EARCO team concluded that, as expected, the risk of lung disease associated with the PI*SS genotype is significantly lower compared to PI*ZZ. In contrast, no significant differences were found between PI*SS and PI*SZ in the incidence of lung disease or in the parameters of lung function, exacerbations, dyspnea, or quality of life.
An increasingly important field in medicine deals with gender differences. Thanks to Professor Trudzinski and Dr. Ersöz, a team has analyzed data from the EARCO registry and specifically searched for differences in alpha-1 antitrypsin deficiency. Sex Differences in Alpha-1 Antitrypsin Deficiency: Data From the EARCO Registry © 2024 The Author(s). Published by Elsevier España, SLU on behalf of SEPAR. The results show clear differences.