Alpha-1 international registry

Objective

Alpha-1-antitrypsin deficiency (AAD) is a rare inherited disorder on chromosome 14q32.1 that predisposes to liver, vascular but especially early onset, rapidly progressive lung disease. As recommended by the WHO in 1996 in Geneva, we have established an international registry in January 1999 and developed a simple database and DNA bank, now containing over 300 European patients with AAD. The proposed Action is to execute a study using genome-wide linkage and association studies in DNA samples, to find other genetic risk factors explaining why some smokers with the inherited deficiency develop lung emphysema, while others with the same smoking history don’t. Furthermore, we aim to use existing European databases on air pollution to find correlations with clinical data and/or new genetic information in a two year longitudinal study with AAD patients. Funding is requested to enable the logistics around the two proposed studies.

Programme(s)

• FP5-LIFE QUALITY - Specific Programme for research, technological development and demonstration on "Quality of life and management of living resources", 1998-2002

Topic(s)

• 1.1.1.-8. - Research into genomes and diseases of genetic origin

Funding Scheme

CON - Coordination of research actions

Coordinator

UNIVERSITY OF BIRMINGHAM

Address

Edgbaston
B15 2TH Birmingham
United Kingdom

Participants (9)

ASSOCIATION HOSPITALIERE ETTERBEEK-IXELLES

Belgium

Address

Rue Jean Paquot 63
1050 Bruxelles

INSTITUT CATALA DE LA SALUT

Spain

Address

Paseo Valle De Hebron 119-129
08035 Barcelona

IRCCS POLICLINICO SAN MATTEO - ISTITUTO DI RICOVERO E CURA A CARATTERE SCIENTIFICO

Italy

Address

Via Taramelli 5
27100 Pavia

LUND UNIVERSITY

Sweden

Address

Soedra Foerstadsgatan 101
205 02 Malmoe

OSTERR-GESELLSCHAFT FUER LUNGENERKRANK U. TBC

Austria

Address

Alserstrasse 4
1090 Wien

PHARMANET LTD

United Kingdom

Address

One Silk Street
EC27 8HQ London

UNIVERSITY HOSPITAL OF ZUERICH

Switzerland

Address

Raemistrasse 100
8091 Zurich

UNIVERSITY OF COPENHAGEN

Denmark

Address

Niels Andersens Vef 65
2900 Hellerup

UNIVERSITY OF OTAGO

New Zealand

Address

Riccarton Avenue 2
8001 Christchurch