Research Project

Alpha-1 antitrypsin deficiency associated with the Mmalton variant – characterization and prognosis

Principal Investigator:

Beatriz Ferraz / Maria Sucena / Joana Gomes

Center:

Centro Hospitalar Universitário do Porto - Hospital de Santo António

City/Country:

Porto (Portugal)

Start date:

September 2022

Status:

Ongoing

Contact E-mail:

beatrizferraz.pneumologia@chporto.min-saude.pt

Introduction

Although AATD is a well-characterized pathology, little is known about the patients AATD

PI*Mmalton genotypes variation. Most of the patients with Mmalton

alleles are particularly common in Sardina ii. It was also shown that this variation accounts about 20%

of the rare alleles identified in different study.

There is limited data from the rest of the Europe about Mmalton genotype – we believe it would

be important to characterize this patients in a clinical and epidemiologically way and study their

evolution in a long-term analysis

We aim to characterize patients with AATD carriers of the PI* Mmalton

variant – epidemiology, genotypes, clinical manifestations, lung function, treatment and prognosis.

Adults (≥18 years) diagnosed with AATD carriers of the PI* Mmalton variant that are included in the

EARCO registry.

Control Cohort:

Adults (≥18 years) diagnosed with AATD Pi*ZZ that are included in the EARCO registry.

This study has two parts:

- Identify and characterize patients with AATD carriers of the PI*Mmalton variant.

- Study the disease progression and compare the evolution (after 2 and 4 years) of these patients

with other genotype that also affect liver and lung function like PI*ZZ.