Why do we need a European patient registry – and what benefits will it bring us?

Marion Wilkens, as appeared in Alpha1 Journal 1/2025.

A patient registry is an electronic database that collects medical information about patients with a specific disease. For rare diseases like alpha-1 antitrypsin deficiency (AATD), such a registry is particularly valuable: it enables the collection of large, long-term datasets that help improve care and treatment.

Why is this important?

Especially in the case of rare diseases, reliable data is often lacking – for example, on the natural course of the disease, the effects of therapy, or differences between individual patients. In AATD, for instance, we don't yet know exactly why patients with the same genotype (e.g., Pi*ZZ) show such different disease courses. We also know little about other gene variants. This is where the European EARCO registry comes in.

What is EARCO?

The European Alpha-1 Research Collaboration (EARCO) is a Europe-wide network of researchers, clinicians, and patient organizations. Its goals include:

• Establishment of an international registry for AATM patients
• Collection of high-quality long-term clinical data
• Better understanding of the disease progression
• Investigation of the effect of substitution therapy
• Development of standardized diagnostic and therapeutic recommendations

Who can participate?

All patients with an AAT serum level < 11 μM (50 mg/dl) and/or with genotypes PiZZ, PiSZ or other rare deficiency variants (homo- or compound heterozygous).

What data is collected? 

• Socioeconomic data (e.g. age, gender, origin, smoking status)
• Medical data (BMI, lung function, CT scan, liver function tests, AAT levels, genotype, treatment methods)
• Symptoms and disease progression (exacerbations, hospital stays, quality of daily life)
• annual follow-ups