Author
Dr.-Ing. Heinz Stutzenberger, as published in Alpha1 Journal 1/2023.
At the invitation of our American friends from the Alpha-1 Foundation, Marion Wilkens and I were able to attend this event. Due to the pandemic, this conference, which is usually held every two years, had been cancelled in 2021. Marion Wilkens was therefore all the more delighted to see her numerous friends, colleagues, and contacts from other international patient organizations, the physician researchers, and the representatives of the pharmaceutical industry again at the reception on the eve of the conference. For the first time, I had the opportunity to meet in person my colleagues working towards a European Alpha-1 Alliance, with whom I have been collaborating several times a week in virtual meetings for more than six months.
The first day of the research conference focused on the presentation of new medications and treatment methods currently undergoing various phases of clinical trials. For example, the development of an inhaled alpha-1 antitrypsin (AAT) delivery system is well advanced. This system replaces the complex intravenous administration of AAT with inhalation, such as the daily saline inhalation routine already common for many individuals with alpha-1 antitrypsin use to thin airway secretions. Subcutaneous injection, which can be administered by non-medical personnel, could also offer a significant advantage in terms of ease of use. Other approaches are in earlier stages of development.
- Production of AAT without the use of human blood plasma, e.g. by extraction from animal or plant cells, as is already practiced today in the production of insulin or vaccines.
- Drug-based approaches to prevent AAT clumping in the liver or to dissolve it after preventing the formation of further "unusable" AATs.
- genetic engineering approaches in the context of preclinical studies
The appeal from physicians conducting research to patients to participate in Phase 3 drug development trials was frequently heard, as new medications cannot be used without them. Even if some patients do not benefit immediately, for example, because they are assigned to the placebo group, they help ensure that affected relatives, children, and grandchildren can later benefit from new therapies. However, participation in these trials is not open to everyone: firstly, participation is not possible in all countries and locations, and secondly, there are extensive lists of inclusion and exclusion criteria for potential participants, depending on the specific evidence to be provided by the respective study. You can find a complete overview of the studies currently underway in the USA, Europe and many other countries here.
On the second day, the patient congress, these issues were the focus. One key finding (not new) was the enormous differences in the individual manifestations of symptoms caused by AAT deficiency in different patients, as well as in the level of support patients receive in different countries. The spectrum ranges from complete ignorance and disregard for the issue, even in countries where immigration from Europe suggests a large number of people affected by AAT deficiency, to countries where there is an increasing systematic search for affected individuals (in extreme cases, even newborn screening, i.e., comprehensive genetic testing for a multitude of possible gene defects in all babies immediately after birth) and where AAT augmentation/substitution therapy is available for the most severely affected patients and is covered by health insurance. Several patient representatives recounted years of struggle through various institutions, where access to established therapies was only achieved through the persistence of individuals, serving as encouragement to those who still have to fight for this goal.
Following the conclusion of the official portion of this highly informative and impressive event, the partners in the European alliance met in person for the first time for a joint session. This meeting allowed them to explain the current state of preparations to those country representatives who are less present at the online meetings due to time constraints and language barriers. All participants reaffirmed their desire to join this alliance, undoubtedly encouraged by the strong and unanimous support the idea received during the official part of the conference from other organizations, researchers, and pharmaceutical representatives.
Having not been active in Alpha1 Germany and the Alpha community for very long, I flew home deeply impressed by the expertise that was represented and disseminated in Dublin, but also by the commitment of the patient organizations and especially the high regard they enjoy among all those who are developing new therapeutic approaches against AAT deficiency, and last but not least, by the warmth of everyone I met and got to know.
