Author
Malin Fromme and Pavel Strnad
We are frequently asked why there are so few approved medications for patients with alpha-1 antitrypsin deficiency and why, for example, augmentation therapy (replacement therapy) is not covered by health insurance in all European countries. To answer these questions, one must first understand the requirements that the relevant regulatory authorities place on potential medications.
The most important questions are:
- Is the medication even effective?
- Which patients will benefit from the new drug?
Regarding efficacy, so-called hard endpoints are usually expected. This means that a drug should be able to save lives. This hurdle is particularly difficult to overcome in the case of rare diseases that progress very slowly. The best approach is a good understanding of disease progression. It is therefore important to understand how and in whom the disease progresses and how the progression is characterized. With the help of this information, it is possible to define which parameters predict an unfavorable prognosis. This kills two birds with one stone. On the one hand, it can be defined which subjects are particularly susceptible and therefore benefit from therapy; on the other hand, surrogate parameters (alternative measures) are defined that can be used to demonstrate efficacy.
In all these efforts, the European Liver Registry, which is primarily based in Germany, plays a key role. Since 2015, participants have been systematically recruited and blood samples collected. These samples can be used to identify and validate the aforementioned surrogate parameters.
For this reason, we have launched the very important longitudinal follow-up study, with which we aim to reach all participants from recent years to evaluate how the disease has progressed in the meantime. For this purpose, all participants with the most severely affected genotype Pi*ZZ will be contacted by telephone to complete a questionnaire with us.
Of course, we need your help for this, because only in this way can we find out what has become of all the subjects who have been examined by us in the last seven years.
Therefore, we would like to sincerely ask for your help: The approval of the first medications for alpha-1 antitrypsin deficiency-associated liver disease is within reach. Now we are all called upon to make this dream a reality – BE THERE!
Your data is important to us!
We are happy to support the study centers, but we never share your data. Therefore, you may receive a letter from us, but the contents may originate from a study center. This content has been forwarded to us for delivery to you, and your data privacy remains guaranteed.
