Science and Research

New Patient-Centric Approaches to the Management of Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (AATD) is a rare and underdiagnosed genetic predisposition for COPD and emphysema and other conditions, including liver disease. Although there have been improvements in terms of awareness of AATD and understanding of its treatment in recent years, current challenges center on optimizing detection and management of patients with AATD, and improving access to intravenous (IV) AAT therapy - the only available pharmacological intervention that can slow disease progression. However, as an orphan disease with geographically dispersed patients, international cooperation is essential to address these issues. To achieve this, new European initiatives in the form of the European Reference Network for Rare Lung Diseases (ERN-LUNG) and the European Alpha-1 Research Collaboration (EARCO) have been established. These organizations are striving to address the current challenges in AATD, and provide a new platform for future research efforts in AATD. The first objectives of ERN-LUNG are to establish a quality control program for European AATD laboratories and create a disease management program for AATD, following the success of such programs in the United States. The main purpose of EARCO is to create a pan-European registry, with the aim of understanding the natural history of the disease and supporting the development of new treatment modalities in AATD and access to AAT therapy. Going further, other patient-centric initiatives involve improving the convenience of intravenous AAT therapy infusions through extended-interval dosing and self-administration. The present review will discuss the implementation of these initiatives and their potential contribution to the optimization of patient care in AATD.

  • Chorostowska-Wynimko, J.
  • Barrecheguren, M.
  • Ferrarotti, I.
  • Greulich, T.
  • Sandhaus, R. A.
  • Campos, M.

Keywords

  • *Alpha-1 antitrypsin deficiency
  • *alternative dosing
  • *registries
  • *self-administration
  • *testing
  • non-financial support from Grifols, Boehringer Ingelheim, and CSL Behring,
  • personal fees, non-financial support from Novartis, and personal fees from GSK,
  • outside the submitted work. Dr Miriam Barrecheguren reports personal fees from
  • Grifols, Menarini, CSL Behring, GSK, Novartis, and Gebro Pharma, outside the
  • submitted work. Dr Ilaria Ferrarotti reports personal fees from Grifols and
  • grants from CSL Behring, outside the submitted work. Dr Timm Greulich reports
  • personal fees from AstraZeneca, Berlin-Chemie, Boehringer-Ingelheim, Chiesi,
  • CSL-Behring, Grifols, GSK, and Novartis, outside the submitted work. Professor
  • Robert A Sandhaus reports participation in advisory boards for Grifols, CSL
  • Behring, AstraZeneca, Mereo, and Inhibrx for which he receives reimbursement of
  • travel expenses. Dr Michael Campos reports grants, non-financial support, and
  • personal fees from CSL Behring, and grants and personal fees from Grifols,
  • outside the submitted work. The authors report no other conflicts of interest in
  • this work.
Publication details
DOI: 10.2147/COPD.S234646
Journal: Int J Chron Obstruct Pulmon Dis
Pages: 345-355 
Work Type: Review
Location: UGMLC
Disease Area: COPD
Partner / Member: UMR
Access-Number: 32103933
See publication on PubMed

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