Welcome to the Catalan Centre of Alpha-1 Antitrypsin Deficiency.

Our main objective is to promote research and training in Alpha-1 Antitrypsin Deficiency (AATD).

The Center

Emphysema due to Alpha1-Antitrypsin (AAT) deficiency is the most common congenital adulthood respiratory disease. It confers an increased risk of developing emphysema even at early ages.

Its status as a minority disease creates the need to concentrate detected cases to generate knowledge about the disease, mechanisms research possibilities and new therapies.

In Catalonia, Vall d’Hebron University Hospital initiated the treatment of this condition and was a pioneer in developing a program of detection and therapy.

In January 2014 the center of excellence in research AATD was created, this center is integrated in the Pneumology Department and coordinated by Dr. Miravitlles; a multidisciplinary team provides services to AAT deficiency patients and their families, including both clinical and biochemical diagnosis, which allows the characterization of possible genetic variants of AAT. The main objective of the center is to promote research and training in AAT.

Activity areas

Clinic research

The Impact of the disease and the replacement therapy.

Basic research

To determine the phenotype of the genetic variants.

Teaching and training

To promote professional training in AATD

Information

To provide information about AATD for patients and families.

Projects

Omics sciences in the evolution of Chronic Obstructive Pulmonary Disease (COPD) caused by deficiency of Alpha-1 Antitrypsin (AAT): towards personalized medicine.

Principal Investigator:

Cristina Esquinas

 

An analysis of the transcriptome to identify whether there differentially expressed genes (DEG) in patients with AAT deficiency (PiZZ) with a worse clinical outcome (decline faster in lung function, FEV1%) compared to the AAT patients (PiZZ) having a more stable disease evolution. Analyze the expression of microRNA and its relationship with the expression of RNA and identify biological pathways that may explain the progression and pathogenesis of AAT (PiZZ).

Detection of circulating Alpha-1 Antitrypsin polymers and their relationship to the development of EPOC

Principal Investigator:

Cristina Esquinas

Analyze polymer concentrations of circulating serum AAT in individuals with EPOC carriers of the most common genotypes in the Spanish population (MM, MS, SS, MZ, SZ and ZZ) and MM controls without COPD.

Analyze the impact of circulating concentrations AAT polymers in disease severity.

Improved diagnostic algorithm Alpha-1 Antitrypsin from samples obtained in routine laboratory and medical consultation

Principal Investigator:

Irene Belmonte

Use of buccal swabs as a new option sample for genotyping of AAT. To do this, is to tune the genotyping technique for variants S, Z and Mmalton and genotyping technique by sequencing the coding exons of the AAT gene allele-specific.
Design of PCR technique can amplify and sequence the coding exons of the gene AAT content from serum DNA.

Grant of the Catalan Foundation of Pneumology (FUCAP 2014)

Principal Investigator:

Francisco Rodríguez-Frías

Rapid detection of Mmalton allele of Alpha-1 Antitrypsin by real-time polymerase chain reaction (PCR) and sequencing.

Project 2014

Principal Investigator:

Marc Miravitlles

Research on knowledge and attitudes towards deficit Alpha-1 Antitrypsin of the catalonia physicians.

Grant of the Catalan Foundation of Pneumology (FUCAP 2013)

Principal Investigator:

Miriam Barrecheguren

Deficiency of Alpha-1 Antitrypsin deficiency: identification of limits in the diagnosis and monitoring in Catalonia.

Grant from the Spanish Society of Pneumology and Thoracic Surgery (SEPAR 2013)

Principal Investigator:

Marc Miravitlles

Alpha-1 Antitrypsin deficiency: identifying limitations in the diagnosis and monitoring in Catalonia.

Publications

publicacion3

Esquinas C, Barrecheguren M, Sucena M, Rodriguez E, Fernandez S, Miravitlles M.

Practice and knowledge about diagnosis and treatment of alpha-1 antitrypsin deficiency in Spain and Portugal.

BCM Pulmonary Medicine 2016 (16): 64

investigacion4
Clin Chem Lab Med.

Belmonte I, Montoto L, Miravitlles M, Barrecheguren M, Esquinas C, Rodríguez E, Giralt M, Rodríguez-Frías F.

Rapid detection of Mmalton α1-antitrypsin deficiency allele by real-time PCR and melting curves in whole blood, serum and dried blood spot samples.

Clin Chem Lab Med. 2015 Jul 8.

Pubmed

Alfa1 Investigación
Giacoboni D et al. Arch Bronconeumol. 2014 Oct 6

Giacoboni D, Barrecheguren M, Esquinas C, Rodríguez E, Berastegui C, López-Meseguer M, Monforte V, Bravo C, Pirina P, Miravitlles M, Román A.

Characteristics of candidates for lung transplantation due to chronic obstructive pulmonary disease and Alpha-1 Antitrypsin deficiency emphysema.

Arch Bronconeumol. 2014 Oct 6

Pubmed

Alfa1 Investigación
Manca et al. COPD 2014; 00:1-9

S Manca, E Rodriguez, A Huerta, M Torres, L Lazaro, S Curi, P Pirina, M Miravitlles.

Useful of the CAT, EQ_5D and COPDSS Scales in understanding the impact of lung disease in patients with Alpha-1 Antitrypsin deficiency.

COPD 2014; 00:1-9.

Pubmed

External links

The following list provides information about scientific societies, intitutions that work in national and international AATD research and treatment.

Check all the information about AATD.

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