Alpha1 Germany e. V.

Children and young people with Alpha-1: Watch the presentation now on YouTube

What does alpha-1 antitrypsin deficiency actually mean for children and adolescents? What happens in the body? And what can families do to cope well with the condition? These were precisely the questions addressed at the Alpha1 Information Day 2026 in the seminar „Children and adolescents with alpha-1 antitrypsin deficiency“ with Dr. Eva-Doreen Pfister and Dr. Marie Korell.

Alpha1 Germany e. V. has long been committed to providing reliable information, guidance, and support to young people affected by the condition and their families. It is particularly important to explain the illness to children and adolescents in an understandable way – without causing fear.

The two speakers Priv.-Doz. Dr. med. Eva Doreen Pfister and Dr. med. Marie Korell The team from the Department of Pediatric Gastroenterology and Hepatology at Hannover Medical School achieved precisely that in their presentation: They took the participants of the information day – children and adolescents of different ages as well as their parents and families – on a vivid journey through the body. In a way that was easy for children to understand, they explained the normal function of alpha-1 antitrypsin, what happens when there is a deficiency, and why the disease can primarily affect the liver and later also the lungs.

In addition to the medical fundamentals, the discussion also covered very practical questions: What role does a healthy lifestyle play? Which examinations are important? What treatment options are already available? And what new therapeutic approaches might play a role in the future?

Another important focus was the Alpha-1-KIDS Registry. The aim is to help better understand alpha-1 antitrypsin deficiency in children and adolescents, gather experience, and further improve long-term care. The speakers emphasized the importance of every registration. Only together, and through real cases, can we gain more knowledge about the disease and thus help other affected families.

Anyone who couldn't attend the information day or would like to watch the presentation again at their leisure can now find the recording on our Alpha1 YouTube channel!

Alpha1 Germany e. V. 

With „Alpha1 – well heard“ Alpha1 Germany is launching its own podcast for people with Alpha-1 antitrypsin deficiency, their families, and anyone interested in the topic. Whether on the way to work, during a walk, or relaxing at home – the podcast offers a convenient and easy way to listen to fascinating topics related to Alpha1. The aim is to impart knowledge, share experiences, and give a voice to the Alpha1 community.

The story of Alpha1: Our first podcast episode 

To begin, we'll take a look back at the history of alpha-1 antitrypsin deficiency. How was the disease discovered? What scientific milestones have shaped our understanding of alpha-1? And how has the situation for those affected changed over the decades?

Our first chairwoman will discuss this. Marion Wilkens and Prof. Dr. Sabina Janciauskiene out of our Scientific Advisory Board. Together they contextualize important developments and show why education, research and networking still play a crucial role for people with Alpha1 today.

A podcast for the Alpha1 community

The first episode is just the beginning. In the future, we want to expand the podcast step by step and create a platform that imparts knowledge, shares experiences, and connects people. We plan to include conversations with patients, family members, doctors, and other experts from medicine and research.

The aim is to create a diverse range of offerings that informs, supports, and encourages.

Listen now!

The first episode of the Alpha1 Germany podcast is now available on Spotify. We look forward to many more exciting conversations and hope you enjoy listening!

Alpha1 Germany eV.

COPD Update 2026: New findings that are also important for Alpha-1 patients 

The new S2k guideline on the diagnosis and therapy of COPD The guideline has been published and includes several important updates that are also highly relevant for people with alpha-1 antitrypsin deficiency. Developed under the leadership of the German Society for Pneumology and Respiratory Medicine (DGP) by numerous experts, the guideline summarizes the current state of research. Its aim is to enable earlier detection and improved treatment of the disease.

A particular focus is on more precise diagnostics. If COPD is suspected, but a basic lung function test is still unremarkable, further investigation will be conducted. This includes more advanced lung function tests that allow for the early detection of changes. Computed tomography of the chest is also gaining importance, especially when symptoms and test results do not correlate well or when there are frequent deteriorations.

For people with alpha-1 antitrypsin deficiency, it is particularly important that this condition has been given its own chapter in the new guideline for the first time. It is now clearly recommended that all people with COPD should be tested for alpha-1 antitrypsin deficiency at least once in their lives. The reason for this is that this cause often goes undetected, even though it can be treated specifically. Simple blood tests, which can provide additional indications of inflammation, are also receiving more attention.

Another important point is the management of so-called exacerbations, i.e., acute worsenings of the disease. The guideline makes it clear that every worsening should be taken seriously, even if it initially appears mild. Early adjustment of the treatment can help to positively influence the course of the disease.

In addition to medication, other measures also play a significant role. These include, above all, consistently quitting smoking, regular exercise and rehabilitation, as well as recommended vaccinations, for example against influenza, pneumococcus, or RSV. It is also noted that COPD increases the risk of cardiovascular disease, which is why this risk should be taken into account.

Overall, the new guideline demonstrates that early diagnosis and comprehensive treatment are crucial. It offers particularly important insights for people with alpha-1 antitrypsin deficiency, enabling them to better recognize the disease and treat it more effectively.

Further information can be found in the S2k guideline „Specialist diagnostics and therapy of chronic obstructive pulmonary disease (COPD) 2026“, which is available via the AWMF.

This can also be read in the DGP press release.

Regarding the guideline

Guidelines and good medical treatment form an important basis for managing the disease. But what those affected can do themselves is equally crucial. This isn't about traditional self-help groups, but rather a new training tool that helps patients recognize acute exacerbations of COPD early on:

Detecting acute COPD exacerbations earlier: How a simple training tool (called CERT) can help you.

Author: Dr. Rainer Gloeckl, Research Institute for Pulmonary Rehabilitation, Schön Clinic Berchtesgadener Land, Schönau am Königssee

Many people with alpha-1 deficiency are familiar with the fear of a sudden worsening of their condition, known as an exacerbation. However, action is often only taken when it is already too late. A new study now shows that with the right tool, the CERT questionnaire, these crises can be recognized before they fully manifest.

When you suddenly can't breathe: Many people don't contact a doctor, or contact them too late. 

An exacerbation is an acute crisis for your lungs. Shortness of breath increases, the cough becomes more troublesome, and your physical capacity drops rapidly. However, the main problem is not only the event itself, but also the timing of seeking medical help.

Perhaps you're familiar with this: It's easy to downplay the first signs. "It's just an off day" or "It's probably just the weather." Studies show that more than half of all acute exacerbations in people with COPD are never reported to their doctor. But if you wait too long, you risk a lot. Every severe exacerbation can permanently damage your lung function and significantly extend your recovery time. Generally, the earlier medication is started, the less severe the crisis will be.

What exactly is the CERT? 

To help you perceive changes in your body more objectively, the CERT (COPD Exacerbation Recognition Tool) was developed (Figure 1). It is a simple, practical training tool specifically designed to improve communication between you and your doctor.

CERT (COPD Exacerbation Recognition Tool)

If you at least have selected 2 points in red, you are likely experiencing a worsening of your COPD, and you should see your doctor. 

Figure 1. The CERT training tool

Instead of relying on complicated medical tests, the CERT focuses precisely where it matters: on what you yourself feel. The CERT helps you ask yourself targeted questions about the worsening of your symptoms. Crucially, you choose the description that best describes your current situation compared to your usual one, specifically regarding the following five symptoms:

1. Worsening cough
2. Increased ejaculation
3. shortness of breath
4. Difficulty breathing
5. Limited physical activity

When should I fill out the CERT form and what does my result mean?

You should complete the CERT if you believe your symptoms have worsened. If at least two of the five listed symptoms have worsened to "moderate" or "severe" (i.e., "in the red zone"), you are likely experiencing an acute exacerbation of your COPD and should consult a doctor. Even if you feel significantly worse than usual, but only one or none of the symptoms have worsened to "moderate" or "severe," you should still see a doctor.

New study shows: Gain a one-day advantage with CERT

Why is this simple training tool so valuable to you? A recent study (Gloeckl et al., 2025) impressively demonstrated the effectiveness of the CERT. With the CERT, signs of deterioration were detected, on average, a full day before a clinical diagnosis by a physician. This extra day is crucial for you. It can determine whether a minor adjustment to your medication at home is sufficient or whether you need to be hospitalized.

Where can you find the CERT?

The CERT is recognized worldwide and easily accessible for you.

• CERT Download: On the GAAPP homepage The CERT is available to you in many different languages as free download available.
• Online check: In Germany, the Lung Information Service offers an interactive online version that allows you to check your symptoms directly on your computer or smartphone. To the interactive CERT tool!
• Video tip: Would you like to know more about the background? Feel free to take a look at this. YouTube video about the CERT from the series „Pneumo4Coffee2Go“ on.

Sources:

• Gloeckl R, Jones PW, Kroll D, Jarosch I, Schneeberger T, Claussen J, Schmidt P, Vogelmeier CF, Kenn K, Koczulla AR. Can Patient Education Lead the Way? Head-To-Head Comparison of EXACT and CERT for Early Recognition of Acute COPD Exacerbations. Respirology. 2025 Nov 30. doi: 10.1002/resp.70170. Online ahead of print
• Gloeckl R, Tal-Singer R, Deussen P, Winwood R, Mohan T, Turner M, Hamouda M, Moore M, Jones P. CERT (COPD Exacerbation Recognition Tool): Translation, cross-cultural and linguistic validation. COPD. 2026 in press

Research: New findings on COPD

All good things come in threes, so we have something else from the Research on COPD, The following research we would like to report on: Researchers at Philipps University of Marburg have discovered why the chronic lung disease COPD often suddenly worsens significantly during a flu infection. The focus is on a messenger substance called CXCL11, which is produced in increased amounts during infection and disrupts the balance of the airways.

The intriguing aspect is that CXCL11 causes increased production of thick mucus while simultaneously weakening the body's natural defenses against viruses. This combination can explain why COPD so often leads to a so-called "downward spiral." An infection results in more mucus, which further constricts the airways. This makes coughing more difficult, pathogens remain in the lungs longer, and trigger further inflammation—the symptoms worsen continuously.

The findings of the research group led by Prof. Mareike Lehmann and Prof. Bernd Schmeck, published in the journal Thorax, are so important because they could provide a new approach for future treatments. If it becomes possible to specifically influence this mechanism, such deterioration could potentially be slowed down or even prevented at an early stage.

For patients, this means that a better understanding of the disease brings research a step closer to new therapies that could help avoid acute deteriorations and improve quality of life in the long term.

Regarding the report

Briefly noted: Further interesting information 

In keeping with the topic of the newsletter, we would like to address the Reminder: Webinar series on topics related to COPD. The next webinar „This constant phlegm – What role does phlegm (or mucus?) play in the respiratory tract and how can I deal with it?“ takes place on April 29, 2026 at 5:00 PM with Dr. Pontus Mertsch, LMU Clinic of the Ludwig Maximilian University of Munich.

And at June 24, 2026 at 5:00 PM then "„COPD safely under control: Recognize warning signs, stay active“Presented by Dr. Rainer Glöckl, Schön Klinik Berchtesgadener Land. The topic is the same as mentioned earlier in the newsletter: "How you can use the CERT questionnaire to intercept crises early and regain more energy for everyday life through targeted training."„

To register

Alpha1 Germany eV.

Get to know us now: Our new scientific advisory boards 

This year's second newsletter focuses on our scientific advisory boards. If you'd like to take a look at our homepage If you take a look to see who belongs to this committee, you will discover two new faces: We are very pleased to have gained Dr. Inga Jarosch for the area of rehabilitation, sport and therapy, and Dr. Tessa Schneeberger for the area of rehabilitation, sport and respiratory or physiotherapy.

We will introduce them both in detail at our members' meeting and in the upcoming journal. We extend a warm welcome to them already!

To our scientific advisory board.

News from our advisory board member Prof. Pavel Strnad: move to Cottbus

We wish our advisory board member, Univ.-Prof. Dr. med. Pavel Strnad, all the best on his move to the Lausitz Medical University in Cottbus. He has taken over as head of the 4th Medical Clinic there since March 1st.

The study/registry will continue in Aachen, and nothing will change for our information day in Bad Wildungen, as alpha-1 antitrypsin deficiency will remain a focus for him and the Aachen team. Dr. Malin Fromme will remain in Aachen and take over the care of the alpha-1 patients there. Many of us know and value her highly. It's good to have another important location for excellent liver expertise.

A new textbook by our advisory board member Monika Tempel and Dr. Paul Köbler has been published: „Psychopneumology: A Practical Guide for Medicine and Psychology“

Pulmonary care faces new challenges: Chronic respiratory diseases affect not only the physical but also the psychological well-being of those affected. This is precisely the focus of the new textbook "Psychopneumology – A Practical Guide for Medicine and Psychology," recently published by Springer Berlin Heidelberg.

This standard work is explicitly aimed at medical professionals: doctors, therapists, psychologists, pulmonologists, nurses and other professionals involved in care will find here a holistic guide to the diagnosis and therapy of psychosocial symptoms associated with respiratory diseases.

What makes this book special?

• It combines pulmonological and psychological perspectives in an integrative approach.
• The focus is on psychological stress, coping with illness, comorbidities and practical interventions in everyday clinical practice.
• Numerous case studies, diagnostic tools, and therapeutic strategies facilitate application in a professional context.

An important quote from the book underlines why understandable and reliable information is so crucial: „My doctor informed me about the basic medical facts of the illness. Naturally, I then consulted the internet to search for information about the illness. However, I found precisely the kinds of websites that only increased my worries without actually clarifying anything for me.“
— Marion Wilkens, Chairwoman of Alpha1 Germany e. V. (Wilkens 2016, p. 41).

This quote expresses how essential high-quality, reliable information is for those affected – a demand that Alpha1 Deutschland e. V. has been advocating as a patient organization for years.

A particularly noteworthy aspect of this book is its novelty: it is the first to combine a holistic psychopneumological approach in a standard clinical textbook format. It offers professionals a comprehensive reference work that integrates medical, psychological, and rehabilitative perspectives.

Who is it relevant for?

• Doctors and therapists in pulmonology & psychosomatics
• Specialists in rehabilitation and respiratory medicine
• Lecturers and students of clinical disciplines
• Interdisciplinary teams in hospitals and outpatient facilities
• And patients who simply want to know more.

The book is now available as a printed edition and as an eBook – a valuable specialist work that will sustainably enrich healthcare practice.

About the book.

New study on rare genetic variants in alpha-1 antitrypsin deficiency

Several of our advisory board members are involved in the new publication on rare genetic variants in AATD, and it's encouraging to see how centers researching AATD are collaborating. In this case, the German Center for Lung Research (DZL) sites in Heidelberg, Marburg, and Hanover are focusing on rare genetic variants in alpha-1 antitrypsin deficiency—a clinically important and often challenging field. Accurately assessing rare alterations in the SERPINA1 gene remains a significant challenge. These rare genetic variants are biochemically and genetically complex, and current diagnostic methods cannot always definitively determine their significance.

Nevertheless, the increasing number of case reports about such rare mutations provides important insights. They help physicians to better understand the disease and to identify affected individuals as early as possible. Early diagnosis is crucial for initiating appropriate therapies in a timely manner.

The study demonstrates the importance of a comprehensive diagnostic approach. This includes:

• Genetic testing,
• Laboratory analyses of alpha-1 antitrypsin levels and their function,
• as well as a careful clinical assessment of symptoms and organ involvement.

Only by combining these steps can the full spectrum of the disease in Alpha-1 Antitrypsin Deficiency (AATD) be better understood.

Early detection and an individually tailored treatment plan can help to slow the progression of the disease and significantly improve the quality of life of those affected.

Read the study „Clinical implications of a novel SERPINA1 variant c.236 T > A: Challenges in characterizing new rare alpha-1 antitrypsin mutations„Authors include: Arturo Olivares-Rivera, Hilal Ersöz, Philipp Höger, Martina Veith, Timm Greulich, Kai Schlamp, Sabina Janciauskiene, Felix Herth, Franziska C. Trudzinski.

About the study.

Patient transport – important knowledge for people with Alpha-1 Antitrypsin Deficiency (AATD)

People with AATD often require regular, lifelong medical care. This includes specialist appointments, lung function tests, infusion therapies, rehabilitation measures, and even hospital stays. What many affected individuals don't know is that, under certain conditions, the costs of travel to these medically necessary treatments can be covered by health insurance.

The regulations are set by the Federal Joint Committee (G-BA). It is worthwhile to be familiar with them, as the path to treatment can pose a significant physical and logistical challenge, especially in cases of advanced lung disease.

What regulations does the G-BA (Federal Joint Committee) regulate regarding patient transport?

According to the guidelines of the G-BA (Federal Joint Committee), travel expenses for medically necessary treatments can be reimbursed if a doctor's prescription is provided. These include, among other things:

• Trips to inpatient hospital stays
• Trips to outpatient surgeries
• Further journeys if they are necessary for medical reasons (e.g., in case of limited mobility or serious illness)

In many cases, additional approval from the health insurance company is required.

More information about patient transport.

Peter Hübner, as appeared in Alpha1 Journal 2/2025.

Dear members, interested parties and readers, 

We expect to close 2025 with a smaller deficit than in previous years, thus counteracting the negative trend of earlier years. However, this is far from sufficient to guarantee financial security for the coming years. A balanced budget must be the minimum target for 2026. As previously announced, we are developing a series of measures to achieve this goal of a positive annual result in 2026.

This also includes a moderate co-payment for participation in the information day.

Do you have any ideas on how we can tap into additional sources of funding? Actively support us in this endeavor, whether through your own projects, such as requesting donations for a special occasion, or through entirely different suggestions and projects. Feel free to contact us anytime; we look forward to your ideas.

All in all, we can look towards 2026 with hope and excitement.

Of course, the upcoming turn of the year is also a good reason to look back. This includes not only highlights such as the general meeting and the information day, but also the daily work of the association, which is supported by donations large and small. Therefore, a heartfelt THANK YOU to everyone who has supported us!

Unfortunately, where there is light, there is also shadow: outstanding contributions and unreported account changes not only burden us financially, but also cause significant administrative work. Therefore, I urge you to inform us of any changes. To further simplify matters, we will be switching entirely to direct debit and discontinuing the self-payment option.

So, enough looking back and looking ahead, and an opportunity to wish you all a peaceful Christmas and the best possible health for 2026!

Katrin Heimann, as appeared in Alpha1 Journal 2/2025.

My name is Katrin Heimann, I am PiZZ, I have been receiving opioid substitution therapy for 13 years and I use an oxygen concentrator during physical exertion.
At the beginning of 2025, I received the news that I would be allowed to participate in a rehabilitation program in October at the rehabilitation clinic in the seaside resort of Ahlbeck on Usedom.

I'd like to tell you about this stay. I won't go into the application process, deadlines, etc., because my pension isn't covered by the German statutory pension insurance, but by a professional pension scheme. This means the organization and the support I can expect are very individualized.

The clinic wanted me to be admitted in the morning, which, given my 450 km journey, meant that I checked into a campsite the evening before.

I was greeted very kindly at reception the next morning, seated in the dining room, then picked up by a colleague from the ward, and quickly had my room, an appointment with the doctor, and my first lunch.

The clinic may not be furnished in the very latest style, but it feels welcoming and well-organized from the moment you arrive. The light-filled dining room, the attractively furnished rooms with ample and well-designed storage space, and the sound of the Baltic Sea, which is wonderfully audible in the room, made my start very easy. My therapy was determined by the doctor on the first day, and so it began the following morning.

Medical training therapy, breathing exercises on the beach, coordination training, ergometer training, theraband exercises and water aerobics in the hotel's own very nice swimming pool were combined in a good mix with mud packs, massage therapies and inhalations over the following days and really relaxed me.

Furthermore, I received intensive training on COPD. At first, I thought: YES, I already know all that… But the training was really well done, and I didn't feel like I was wasting my time.

Marion Wilkens, as appeared in Alpha1 Journal 2/2025.