update and activities

7th Alpha-1 Global Patient Congress Italian Alfa-1 AT

• The association has about 800 Members of the Italian Association members, among patients, relatives, caregivers, friends, supporters and physicians.

• Alfa-1 AT has a steering committee with 12 people, among patients and physicians.

• Our President, and founder, is Nuccia Gatta. The association was founded in Sarezzo, near xxx/bmgb2bu/psh!ß jogpA bmgb2bu/psh! , in 2001 and since then it’s active in the whole country. t l zqf ;!bmgb2/jubmjb/hf of sjdp

7th Alpha-1 Global Patient Congress | Italian AATD patients DAAT genotypes regional distribution

• 600 adult patients are listed in the Italian Registry of PI*ZZ PI*SZ Severe Alpha-1 Deficiency. We have no information about PI*RR pediatric patients, although there had been an attempt to create a specific Pediatric Registry 6-7 years ago. • We have estimated that the patients listed in the registry represent only the 80% of the patients diagnosed, that should therefore sum up to 720 people. • Based on data from our laboratories and epidemiological studies we estimate that only 10-15% of patients have been correctly diagnosed. There are around 5.000 people out there affected by the pathology and unaware of it and of the possible therapies they could benefit from.

7th Alpha-1 Global Patient Congress | Support to patients

It seems we are the first in Europe to start a pilot test for self-infusion. The protocol has been developed by the team of dr. Corda in ASST Spedali of Brescia and presented in Frankfurt at «train the trainer summit».

On this, dr. Levi produced a useful tutorial in Italian at this link on Youtube https://www.youtube.com/watch?v=jJnX4cPRulg&feature=youtu.be

The project also includes the Home Delivery of the Augmentation Therapy through ADI (Assistenza Domiciliare Integrata) in at least 5 regions in Italy.

7th Alpha-1 Global Patient Congress | Awareness and Advocacy activities

• The association promotes a couple of Info Alpha Days per year, in partnership with a sponsor. • The next annual Assembly is planned on May 11th in the headquarters of the Association in Sarezzo. Scientific abstracts are going to be presented to the participants. • A recently developed poster has been distributed in all pneumological clinics • We are active on social media through a Facebook page • Public Affair activities: presence in GARDITALIA, AIFA, interregional “tables” • Members of UNIAMO (EURORDIS) and FIMARP (Italian federation of of pulmonary rare diseases associations) • Members of the association participate in ERN, EPAG, EARCO in Europe

Per la devoluzione del 5x1000 indicare il codice fiscale dell’Associazione: 92008890177

Associazione Nazionale Alfa1-AT-Onlus di diritto Sede Legale: Via Galilei, 24 - 25068 SAREZZO (Brescia) Sede Operativa: Via Puccini, 24/a - 25068 SAREZZO (Brescia) Tel. (+39) 030 8901057 - (+39) 335 7867955/57 - (+39) 335 7599026

C.C. Postale: 30986210 UBI Banca iban: IT 73M0 3111 5522 0000 0000 10001 Credito Bergamasco iban: IT 88O0 3336 5522 0000 0000 02101

www.alfa1at.org [email protected]

7th Alpha-1 Global Patient Congress | Awareness and Advocacy activities in 2018

Participations to many local and international events during the year. • Jan 28 – Davide Pruneri, alpha patient liver-transplanted runs a marathon in . • March 17 – Participation to the Spring Meeting of Friends of Telethon (rare diseases association) • March 27 in – HCPs meeting on Handling of Alpha-1 Patients with heavy respiratory deficiency • April 16-18 – Trieste. A1AT presence in the famous Congress PneumoTrieste • May 12 – Congress Brescia Pneumologica. The role of GPs in the home delivery of Augmentation therapy for AATD • June 28 – Vercelli Respi-Rare insieme. Focus on AATD, presence of the scientific board of the association. • Sept 22-23 – Pistoia. Participation of the association to the initiative «fitness for breath» • October 26-27 – Venice. HCPs representatives from the association focus on «epidemiological screening and therapy in A1AT» • Dec 2018 – Lions Club Terre del Panaro sponsors a concert in favour of Alpha 1 association 7th Alpha-1 Global Patient Congress | Awareness and Advocacy activities and issues:

7th Alpha-1 Global Patient Congress | Research activities

Pavia Lab is one of the 6 labs standards of excellence in Europe. Reference for western Europe ERN-LUNG. Owner of the Italian AATD Registry.

AATD ITALIAN REGISTRY (1996 – 2018) Veneto 5% Valle d'Aosta Umbria Tr entino A lto A dige 21% Toscana 4% The Association organized the First Italian Sicilia Sardegna Researcher Meeting in Brescia in Feb. 2017. Puglia Piemonte 5% Marche Lombardia 43% Liguria Lazio Friuli Venezia Giulia 5% Em ilia Romagna 5% Campania Calabria Basilicata Abruzzo 0 50 100 150 200 250 300 7th Alpha-1 Global Patient Congress | Research activities

University theses on AATD supported by the Association: • CHARACTERIZATION OF NEW ANTITRIPSIN ALFA1 VARIATIONS IDENTIFIED "IN SILICO" Marco Lancini - Laurea Triennale in Tecniche di laboratorio biomedico • STUDY OF THE POLYMERS OF THE E75V PATHOLOGICAL VARIANT OF ALFA1 ANTITRIPSINA EXPRESSED IN CELLULAR MODELS Sherash Ghaus - Laurea in Biotecnologie • ANTI-ELASTASIC ACTIVITY STUDY OF A NEW ALFA1 ANTITRIPSINE VARIANT Leonardo Lanfranchi - Laurea in Tecniche di laboratorio biomedico • DOSAGE OF POLYMERS AND ANTI-ELASTASIC ACTIVITIES IN THE PLASMA OF PATIENTS WITH DEFICIENCY OF ALPHA 1 ANTITRIPSINE Giovanni Sgrò - Laurea in Tecniche di laboratorio biomedico • CHARACTERIZATION OF EXTRACELLULAR POLYMERS OF ALPHA1 PATHOLOGICAL VARIATIONS Annamaria Fra - Romina Berardelli - Laurea Magistrale in Biotecnologie Mediche

7th Alpha-1 Global Patient Congress | THANKS