Podcast: Understanding AATD

Alpha-1 Antitrypsin Deficiency: Bridging Care

Understanding alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency is a rare genetic disease that predisposes individuals to an increased risk of developing lung and liver complications. Join our experts – Pavel Strnad (Germany), Jeffrey Teckman (USA), and Marc Miravitlles (Spain) – for this podcast series on the importance of early identification, diagnosis, treatment, and management of alpha-1 antitrypsin deficiency.

What is AATD, and how does it impact the liver and the lung?

Episode 1. What are the hepatic and pulmonary consequences of alpha-1 antitrypsin deficiency? Pavel Strnad and Marc Miravitlles examine its incidence, physiological role in homeostasis, associated comorbidities, the impact of COVID-19, and emerging therapeutic approaches.

AATD genotypes involved in liver disease

Episode 2. What do genotype variations reveal about alpha-1 antitrypsin deficiency? Pavel Strnad and Jeffrey Teckman examine genotype variations underlying alpha-1 antitrypsin deficiency and how the condition presents in pediatric and adult patients. They emphasize the importance of early diagnosis and the need to identify and distinguish between patients with homozygous PiZZ and heterozygous PiMZ genotypes, given differences in comorbidities, clinical management, and outcomes.

Screening, diagnosis, and guideline recommendations for AATD management

Episode 3. Early detection can reshape outcomes. Pavel Strnad and Marc Miravitlles highlight the importance – and challenges – of early diagnosis in alpha-1 antitrypsin deficiency, and how the timing of diagnosis can influence disease management. They review gold-standard guideline recommendations for screening and identifying individuals with alpha-1 antitrypsin deficiency genotypes, along with diagnostic approaches and tools for ongoing disease monitoring.

Treatment options for AATD-associated liver disease and current unmet needs

Episode 4. Pavel Strnad and Jeffrey Teckman discuss treatment approaches for people with alpha-1 antitrypsin deficiency, highlighting the role of patient education and routine monitoring. They review current therapies and look ahead to future treatment options, concluding with a discussion on the current unmet needs still facing people with alpha-1 antitrypsin deficiency.

Meet the experts

Pavel Strnad, MD

Pavel Strnad is a full professor and leading physician at University Hospital Aachen, Germany. He heads his own research lab focusing on translational gastroenterology and the European initiative for the study of alpha-1 antitrypsin deficiency–associated liver disease. His interests include metabolic liver disease, liver cirrhosis and its complications, as well as the analysis of complex datasets. His clinical focus is on emerging drugs, end-stage liver disease, and liver transplantation.

Disclosures: Alnylam Pharmaceuticals, Arrowhead Pharmaceuticals, BioMarin Pharmaceutical, CSL Behring, Dicerna Pharmaceuticals, Grifols, GSK, Intellia Therapeutics, Novo Nordisk, Ono Pharmaceutical, Takeda, and Vertex Pharmaceuticals.

Jeffrey Teckman, MD

Jeffrey Teckman is Professor of Pediatrics and Biochemistry at Saint Louis University School of Medicine and Cardinal Glennon Children's Hospital in Missouri, USA. He was named the Drs. James and Patricia Monteleone Endowed Chair in Pediatric Gastroenterology and Hepatology. He has studied liver injury and the model of alpha-1 antitrypsin deficiency for 30 years, and has participated in clinical research studies across a variety of diseases including alpha-1, cystic fibrosis, hepatitis B, hepatitis C, and metabolic disorders. He holds several patents related to liver disease and is a leader in advancing new therapies for alpha-1 disease to clinical trials.

Disclosures: Advisory board or panel fees from BioMarin and Takeda. Consultancy fees from Arrowhead, Beam Therapeutics, BioMarin, Camp4 Therapeutics, Centessa, Dicerna, Intellia, Korro Bio, NeuBase, Novo Nordisk, Takeda, UniQure, and Vertex. Grants research support from Arrowhead, BioMarin, Camp4 Therapeutics, Korro Bio, Takeda, UniQure, and Vertex.

Marc Miravitlles, MD, PhD

Marc Miravitlles is a senior researcher and consultant at Vall d’Hebron University Hospital in Barcelona, Spain. He served as Chair of the Respiratory Infections Group of the European Respiratory Society (ERS) and Guidelines Director of the ERS. He has acted as a consultant for the development of international chronic obstructive pulmonary disease (COPD) guidelines, including the American Thoracic Society (ATS)/ERS guidelines on exacerbations of COPD and the ERS statement on management of respiratory disease in alpha-1 antitrypsin deficiency. He founded the Spanish Registry for alpha-1 antitrypsin deficiency in 1992 and has been the co-chair of the European Alpha-1 Antitrypsin Deficiency Research Collaboration (EARCO) Registry of the ERS since 2018.

Disclosures: Consultancy fees from Atriva Therapeutics, CSL Behring, Grifols, Inhibrx, Mereo Biopharma (relationship terminated), Novo Nordisk, ONO Pharma (relationship terminated), Spin Therapeutics (relationship terminated), and Takeda. Grants/research support from Grifols. Speaker’s bureau fees from CSL Behring, Grifols, Kamada, and Takeda.