The Importance of Reference Centers and Registries for Rare Diseases: The Example of Alpha-1 Antitrypsin Deficiency

References

• European Commission Expert Group on Rare Diseases. 2014. https://ec.europa.eu/health/sites/health/files/rare_diseases/docs/ev_20140211_mi_en.pd; 11–12 February 2014. [Accessed 2020 Jun 19].
   Google Scholar
• Public Law 107-280-NOV. 6, 2002. US Rare Diseases Act of 2002; 2002.
   Google Scholar
• National Institutes of Health Office of Rare Diseases Research. 2020. http://rarediseases.info.nih.gov/Resources/Rare_Diseases_Information.aspx. [Accessed 2020 Jun 19].
   Google Scholar
• Luisetti M, Balfour-Lynn IM, Johnson S, et al. Perspectives for improving the evaluation and access of therapies for rare lung diseases in Europe. Respir Med. 2012;106(6):759–768. DOI:10.1016/j.rmed.2012.02.016
   PubMed Web of Science ®Google Scholar
• Perciaccante A, Charlier P, Negri C, et al. Lessons from the past: Some histories of Alpha-1 antitrypsin deficiency before its discovery. COPD. 2018;15(1):1–3. DOI:10.1080/15412555.2017.1421151
   PubMedGoogle Scholar
• Blanco I, Bueno P, Diego I, et al. Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update. Int J Chron Obstruct Pulmon Dis. 2017;12:561–569. DOI:10.2147/COPD.S125389
   PubMed Web of Science ®Google Scholar
• Dowson LJ, Guest PJ, Stockley RA. Longitudinal changes in physiological, radiological, and health status measurements in alpha(1)-antitrypsin deficiency and factors associated with decline. Am J Respir Crit Care Med. 2001;164(10):1805–1809. DOI:10.1164/ajrccm.164.10.2106036
   PubMed Web of Science ®Google Scholar
• Demeo DL, Sandhaus RA, Barker AF, et al. Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency. Thorax. 2007;62(9):806–813. DOI:10.1136/thx.2006.075846
   PubMed Web of Science ®Google Scholar
• Matamala N, Lara B, Gómez-Mariano G, et al. miR-320c Regulates SERPINA1 expression and is induced in patients with pulmonary disease. Arch Bronconeumol. 2020;S0300-2896(20):30084. DOI:10.1016/j.arbres.2020.03.006
   Google Scholar
• Esquinas C, Janciauskiene S, Gonzalo R, et al. Gene and miRNA expression profiles in PBMCs from patients with severe and mild emphysema and PiZZ alpha1-antitrypsin deficiency. Int J Chron Obstruct Pulmon Dis. 2017;12:3381–3390. DOI:10.2147/COPD.S145445
   PubMed Web of Science ®Google Scholar
• Piitulainen F, Tornling G, Eriksson S. Effect of age and occupational exposure to airway irritants on lung function in non-smoking individuals with alpha-1 antitrypsin deficiency (PiZZ). Thorax. 1997;52(3):244–248. DOI:10.1136/thx.52.3.244
   PubMed Web of Science ®Google Scholar
• Holme J, Stockley RA. Radiologic and clinical features of COPD patients with discordant pulmonary physiology: Lessons from alpha-1 antitrypsin deficiency. Chest. 2007;132(3):909–915. DOI:10.1378/chest.07-0341
   PubMed Web of Science ®Google Scholar
• Piras B, Ferrarotti I, Lara B, et al. Clinical phenotypes of Italian and Spanish patients with α1-antitrypsin deficiency. Eur Respir J. 2013;42(1):54–64. DOI:10.1183/09031936.00104712
   PubMed Web of Science ®Google Scholar
• Soler-Cataluña JJ, Novella L, Soler C, et al. Clinical characteristics and risk of exacerbations associated with different diagnostic criteria of asthma-COPD overlap. Arch Bronconeumol. 2020;56(5):282–290. DOI:10.1016/j.arbres.2019.08.023
   PubMed Web of Science ®Google Scholar
• Nuñez A, Sarasate M, Loeb E, et al. Practical guide to the identification and diagnosis of asthma-COPD overlap (ACO). COPD. 2019;16(1):1–7. DOI:10.1080/15412555.2019.1575802
   PubMedGoogle Scholar
• Gramegna A, Aliberti S, Confalonieri M, et al. Alpha-1 antitrypsin deficiency as a common treatable mechanism in chronic respiratory disorders and for conditions different from pulmonary emphysema? A commentary on the new European Respiratory Society statement. Multidiscip Respir Med. 2018;13:39. DOI:10.1186/s40248-018-0153-4
   PubMed Web of Science ®Google Scholar
• Cazzola M, Stolz D, Rogliani P, et al. α1-Antitrypsin deficiency and chronic respiratory disorders. Eur Respir Rev. 2020;29(155):190073. DOI:10.1183/16000617.0073-2019
   PubMed Web of Science ®Google Scholar
• Miravitlles M, Dirksen A, Ferrarotti I, et al. European respiratory society statement: Diagnosis and treatment of pulmonary disease in alpha-1 antitrypsin deficiency. Eur Respir J. 2017;50(5):1700610. DOI:10.1183/13993003.00610-2017
   PubMed Web of Science ®Google Scholar
• http://ec.europa.eu/health/archive/ph_threats/non_com/docs/contribution_policy.pdf. [Accessed 2020 Jun 19].
   Google Scholar
• Campos MA, Wanner A, Zhang G, et al. Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003. Chest. 2005;128(3):1179–1186. DOI:10.1378/chest.128.3.1179
   PubMed Web of Science ®Google Scholar
• Blanco I, Diego I, Bueno P, et al. Prevalence of alpha-1 antitrypsin genotypes in patients with COPD in Europe: A systematic review. Eur Respir Rev. 2020;29(157):200014. https://doi.org/10.1183/16000617.0014-2020
   PubMed Web of Science ®Google Scholar
• Menga G, Fernandez Acquier M, Echazarreta AL, et al. Prevalence of Alpha-1 Antitrypsin Deficiency in COPD patients in Argentina. The DAAT.AR Study. Arch Bronconeumol. 2019;S0300-2896(19):30572–30578. DOI:10.1016/j.arbres.2019.11.010
   Google Scholar
• Soriano JB, Lucas SJ, Jones R, et al. Trends of testing for and diagnosis of α1-antitrypsin deficiency in the UK: more testing is needed. Eur Respir J. 2018;52(1):1800360. DOI:10.1183/13993003.00360-2018
   PubMed Web of Science ®Google Scholar
• Barrecheguren M, Monteagudo M, Simonet P, et al. Diagnosis of alpha-1 antitrypsin deficiency: a population-based study. Int J Chron Obstruct Pulmon Dis. 2016;11:999–1004. DOI:10.2147/COPD.S108505
   PubMed Web of Science ®Google Scholar
• Greulich T, Ottaviani S, Bals R, et al. Alpha1-antitrypsin deficiency - diagnostic testing and disease awareness in Germany and Italy. Respir Med. 2013;107(9):1400–1408. DOI:10.1016/j.rmed.2013.04.023
   PubMed Web of Science ®Google Scholar
• Esquinas C, Barrecheguren M, Sucena M, et al. Practice and knowledge about diagnosis and treatment of alpha-1 antitrypsin deficiency in Spain and Portugal. BMC Pulm Med. 2016;16(1):64. DOI:10.1186/s12890-016-0222-4
   Web of Science ®Google Scholar
• [No authors listed]. Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ. 1997;75(5):397–415.
   PubMed Web of Science ®Google Scholar
• Attaway A, Majumdar U, Sandhaus RA, et al. An analysis of the degree of concordance among international guidelines regarding alpha-1 antitrypsin deficiency. Int J Chron Obstruct Pulmon Dis. 2019; 14:2089–2101. DOI:10.2147/COPD.S208591
   PubMed Web of Science ®Google Scholar
• Miravitlles M, Herr C, Ferrarotti I, et al. Laboratory testing of individuals with severe alpha1-antitrypsin deficiency in three European centres. Eur Respir J. 2010;35(5):960–968. DOI:10.1183/09031936.00069709
   PubMed Web of Science ®Google Scholar
• Franciosi AN, Carroll TP, McElvaney NG. Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians. Lancet Respir Med. 2019;7(12):1059–106731. DOI:10.1016/S2213-2600(19)30141-9
   PubMed Web of Science ®Google Scholar
• Janciauskiene S, DeLuca DS, Barrecheguren M, et al. Serum Levels of Alpha1-antitrypsin and their relationship with COPD in the general Spanish population. Arch Bronconeumol. 2020;56(2):76–83. DOI:10.1016/j.arbres.2019.03.001
   PubMed Web of Science ®Google Scholar
• Ellis P, Turner A. What Do Alpha-1 Antitrypsin levels tell us about chronic inflammation in COPD? Arch Bronconeumol. 2020;56(2):72–73. DOI:10.1016/j.arbres.2019.06.010
   PubMed Web of Science ®Google Scholar
• Topic A, Milovanovic V, Lazic Z, et al. Oxidized Alpha-1-Antitrypsin as a potential biomarker associated with onset and severity of chronic obstructive pulmonary disease in adult population. COPD. 2018;15(5):472–478. DOI:10.1080/15412555.2018.1541448
   PubMedGoogle Scholar
• Sanders CL, Ponte A, Kueppers F. The effects of inflammation on alpha 1 antitrypsin levels in a national screening cohort. COPD. 2018;15(1):10–16. DOI:10.1080/15412555.2017.1401600
   PubMedGoogle Scholar
• Ottaviani S, Gorrini M, Scabini R, et al. C reactive protein and alpha1-antitrypsin: relationship between levels and gene variants. Transl Res. 2011;157(6):332–338. DOI:10.1016/j.trsl.2010.12.014
   PubMed Web of Science ®Google Scholar
• Greulich T, Rodríguez-Frias F, Belmonte I, et al. Real world evaluation of a novel lateral flow assay (AlphaKit® QuickScreen) for the detection of alpha-1-antitrypsin deficiency. Respir Res. 2018;19(1):151. DOI:10.1186/s12931-018-0826-8
   PubMedGoogle Scholar
• López-Campos JL, Carrasco Hernandez L, Marquez-Martín E, et al. Diagnostic performance of a lateral flow assay for the detection of alpha-1-antitrypsin deficiency. Arch Bronconeumol. 2020;56(2):124–126. DOI:10.1016/j.arbres.2019.09.009
   PubMed Web of Science ®Google Scholar
• Ottaviani S, Barzon V, Buxens A, et al. Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology. J Clin Lab Anal. 2020:e23279. DOI:10.1002/jcla.23279
   PubMed Web of Science ®Google Scholar
• López-Campos JL, Casas-Maldonado F, Torres-Duran M, et al. Results of a diagnostic procedure based on multiplex technology on dried blood spots and buccal swabs for subjects with suspected alpha1 antitrypsin deficiency. Arch Bronconeumol. 2020;S0300-2896(20)30131–9. https://doi.org/10.1016/j.arbres.2020.04.014
   Google Scholar
• Martínez Bugallo F, Figueira Gonçalves JM, Martín Martínez MD. Molecular detection of the frequent Allele F52del in alpha 1 antitrypsin deficiency. Arch Bronconeumol. 2018;54(4):236. DOI:10.1016/j.arbres.2017.10.006
   PubMed Web of Science ®Google Scholar
• Tubío-Pérez RA, Blanco-Pérez M, Ramos-Hernández C, et al. Alpha-1 antitrypsin deficiency associated with the PI*Q0ourém Allele in a 2-year-old girl and family study. An Unusual Case. Arch Bronconeumol. 2018;54(4):228–230. DOI:10.1016/j.arbres.2017.09.011
   PubMed Web of Science ®Google Scholar
• Hernández Pérez JM, Pérez Pérez JA. Changes in the melting point of hybridization probes used for genotyping in alpha-1 antitrypsin deficiency do not always imply errors. Arch Bronconeumol. 2019;55(6):339–340. DOI:10.1016/j.arbres.2018.09.009
   PubMed Web of Science ®Google Scholar
• Singh D, Agusti A, Anzueto A, et al. Global strategy for the diagnosis, management, and prevention of chronic obstructive lung disease: the GOLD science committee report 2019. Eur Respir J. 2019;53(5):1900164. DOI:10.1183/13993003.00164-2019
   PubMed Web of Science ®Google Scholar
• Erro Iribarren M, Alonso Pérez T, Soriano JB, et al. Adjusting the level of intervention in patients with chronic obstructive pulmonary disease according to the risk stratification proposed by the Spanish COPD Guidelines (GesEPOC) Version 2017. Arch Bronconeumol. 2020;56(3):183–185. DOI:10.1016/j.arbres.2019.09.016
   PubMed Web of Science ®Google Scholar
• Alcázar Navarrete B, Ancochea Bermúdez J, García-Río F, et al. Patients with chronic obstructive pulmonary disease exacerbations: Recommendations for diagnosis, treatment and care. Arch Bronconeumol. 2019;55(9):478–487. DOI:10.1016/j.arbres.2019.02.020
   PubMed Web of Science ®Google Scholar
• Pleguezuelos E, Gimeno-Santos E, Hernández C, et al. Recommendations on non-pharmacological treatment in chronic obstructive pulmonary disease from the Spanish COPD Guidelines (GesEPOC 2017). Arch Bronconeumol. 2018;54(11):568–575. DOI:10.1016/j.arbres.2018.06.001
   PubMed Web of Science ®Google Scholar
• Edgar RG, Patel M, Bayliss S, et al. Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review. Int J Chron Obstruct Pulmon Dis. 2017;12:1295–1308. DOI:10.2147/COPD.S130440
   PubMed Web of Science ®Google Scholar
• Chapman KR, Burdon JG, Piitulainen E, et al. Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial. Lancet. 2015;386(9991):360–368. DOI:10.1016/S0140-6736(15)60860-1
   PubMed Web of Science ®Google Scholar
• Horvath I, Canotilho M, Chlumsky J, et al. Diagnosis and management of alpha1-antitrypsin deficiency in Europe: an expert survey. ERJ Open Res. 2019;5(1):00171-2018. DOI:10.1183/23120541.00171-2018
   PubMedGoogle Scholar
• Boerema DJ, An B, Gandhi RP, et al. Biochemical comparison of four commercially available human α1-proteinase inhibitors for treatment of α1-antitrypsin deficiency. Biologicals. 2017;50:63–72. DOI:10.1016/j.biologicals.2017.08.010
   PubMed Web of Science ®Google Scholar
• Esquinas C, Miravitlles M. Are there differences between the available treatments for emphysema associated with alpha-1 antitrypsin deficiency? Arch Bronconeumol. 2018;54(9):451–452. DOI:10.1016/j.arbres.2018.01.006
   PubMed Web of Science ®Google Scholar
• Barrecheguren M, Miravitlles M. Augmentation therapy for emphysema due to alpha-1 antitrypsin deficiency: Pro. Arch Bronconeumol. 2018;54(7):363–364. DOI:10.1016/j.arbres.2018.02.002
   Web of Science ®Google Scholar
• Gáldiz Iturri JB. Augmentation therapy nowadays: Con. Arch Bronconeumol. 2018;54(7):361–362. DOI:10.1016/j.arbres.2017.12.017
   Web of Science ®Google Scholar
• Gotzsche PC, Johansen HK. Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease. Cochrane Database Syst Rev. 2010;(7):CD007851. Epub 2010/07/09.
   PubMed Web of Science ®Google Scholar
• Dirksen A, Piitulainen E, Parr DG, et al. Exploring the role of CT densitometry: a randomised study of augmentation therapy in alpha1-antitrypsin deficiency. Eur Respir J. 2009;33(6):1345–1353. DOI:10.1183/09031936.00159408
   PubMed Web of Science ®Google Scholar
• Chorostowska-Wynimko J, Barrecheguren M, Ferrarotti I, et al. New patient-centric approaches to the management of Alpha-1 antitrypsin deficiency. Int J Chron Obstruct Pulmon Dis. 2020;15:345–355. DOI:10.2147/COPD.S234646
   PubMed Web of Science ®Google Scholar
• Wewers MD, Casolaro MA, Sellers SE, et al. Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema. N Engl J Med. 1987;316(17):1055–1062. DOI:10.1056/NEJM198704233161704
   PubMed Web of Science ®Google Scholar
• Stockley RA, Miravitlles M, Vogelmeier C, Alpha One International Registry (A.I.R.). Augmentation therapy for alpha-1 antitrypsin deficiency: Towards a personalised approach. Orphanet J Rare Dis. 2013;8:149. DOI:10.1186/1750-1172-8-149
   PubMed Web of Science ®Google Scholar
• Campos MA, Geraghty P, Holt G, et al. The biological effects of double-dose alpha-1 antitrypsin augmentation therapy. A pilot clinical trial. Am J Respir Crit Care Med. 2019;200(3):318–326. DOI:10.1164/rccm.201901-0010OC
   PubMed Web of Science ®Google Scholar
• Gaeckle NT, Stephenson L, Reilkoff RA. Alpha-1 antitrypsin deficiency and pregnancy. COPD. 2020;17(3):326–332. DOI:10.1080/15412555.2020.1754778
   Google Scholar
• Esteves Brandão M, Conde B, Seixas S, et al. Pulmonary Emphysema in a child with Alpha-1 antitrypsin deficiency: evaluation of 2 years of intravenous augmentation therapy. Arch Bronconeumol. 2019;55(9):502–504. DOI:10.1016/j.arbres.2019.01.009
   PubMed Web of Science ®Google Scholar
• Stolk J, Tov N, Chapman KR, et al. Efficacy and safety of inhaled α1-antitrypsin in patients with severe α1-antitrypsin deficiency and frequent exacerbations of COPD. Eur Respir J. 2019;54(5):1900673. DOI:10.1183/13993003.00673-2019
   PubMed Web of Science ®Google Scholar
• Pye A, Turner AM. Experimental and investigational drugs for the treatment of alpha-1 antitrypsin deficiency. Expert Opin Investig Drugs. 2019;28(10):891–902. DOI:10.1080/13543784.2019.1672656
   PubMed Web of Science ®Google Scholar
• Stiles KM, Sondhi D, Kaminsky SM, et al. Intrapleural Gene Therapy for Alpha-1 antitrypsin deficiency-related lung disease. Chronic Obstr Pulm Dis. 2018;5(4):244–257. DOI:10.15326/jcopdf.5.4.2017.0160
   PubMed Web of Science ®Google Scholar
• The Council of the European Union; Council recommendation of 8 June 2009 on an action in the field of rare diseases, 2009/C 151/02, available at http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C. :2009:151:0007:0010:EN:PDF; [Accessed 2020 Jun 19].
   Google Scholar
• Chorostowska-Wynimko J, Wencker M, Horváth I. The importance of effective registries in pulmonary diseases and how to optimize their output. Chron Respir Dis. 2019;16:1479973119881777. DOI:10.1177/1479973119881777
   Web of Science ®Google Scholar
• Seersholm N, Kok-Jensen A, Dirksen A. Survival of patients with severe alpha 1-antitrypsin deficiency with special reference to non-index cases. Thorax. 1994; 49(7):695–698. DOI:10.1136/thx.49.7.695
   PubMed Web of Science ®Google Scholar
• Piitulainen E, Tanash HA. The clinical profile of subjects included in the Swedish National Register on individuals with severe alpha-1 antitrypsin deficiency. COPD. 2015;12(sup1):36–41. DOI:10.3109/15412555.2015.1021909
   PubMedGoogle Scholar
• Stockley RA, Luisetti M, Miravitlles M, Alpha One International Registry (AIR) group, et al. Ongoing research in Europe: Alpha One International Registry (AIR) objectives and development. Eur Respir J. 2007;29(3):582–586. DOI:10.1183/09031936.00053606
   PubMed Web of Science ®Google Scholar
• Stolk J, Stockley RA, Piitulainen E, et al. Relationship between change in lung density and long-term progression of lung function. Am J Respir Crit Care Med. 2015;192(1):114–116. DOI:10.1164/rccm.201502-0370LE
   PubMed Web of Science ®Google Scholar
• Survival and FEV1 decline in individuals with severe deficiency of alpha-1 antitrypsin. The Alpha-1 Antitrypsin Deficiency Registry Study Group. Am J Respir Crit Care Med. 1998;158:49–59.
   PubMed Web of Science ®Google Scholar
• Stoller JK, Brantly M, Fleming LE, et al. Formation and current results of a patient-organized registry for alpha(1)-antitrypsin deficiency. Chest. 2000;118(3):843–848. DOI:10.1378/chest.118.3.843
   PubMed Web of Science ®Google Scholar
• Miravitlles M, Chorostowska-Wynimko J, Ferrarotti I, et al. The European Alpha-1 Research Collaboration (EARCO): a new ERS Clinical Research Collaboration to promote research in alpha-1 antitrypsin deficiency. Eur Respir J. 2019;53(2):1900138. DOI:10.1183/13993003.00138-2019
   PubMed Web of Science ®Google Scholar
• Brightling C, Genton C, Bill W, et al. ERS Clinical Research Collaborations: underpinning research excellence. Eur Respir J. 2018;52(3):1801534. DOI:10.1183/13993003.01534-2018
   PubMed Web of Science ®Google Scholar
• Greulich T, Altraja A, Barrecheguren M, et al. Protocol for the EARCO Registry: a pan-European observational study in patients with α1-antitrypsin deficiency. ERJ Open Res. 2020;6(1):00181-2019. DOI:10.1183/23120541.00181-2019
   PubMedGoogle Scholar
• Stockley RA. Antitrypsin deficiency assessment and programme for treatment (ADAPT): The United Kingdom registry. COPD. 2015;12(sup1):63–68. DOI:10.3109/15412555.2015.1021911
   PubMedGoogle Scholar
• Lara B, Blanco I, Martínez MT, et al. Spanish registry of patients with alpha-1 antitrypsin deficiency: Database evaluation and population analysis. Arch Bronconeumol. 2017;53(1):13–18. DOI:10.1016/j.arbres.2016.05.003
   PubMed Web of Science ®Google Scholar
• Chorostowska-Wynimko J, Struniawski R, Sliwinski P, et al. The national alpha-1 antitrypsin deficiency registry in Poland. COPD. 2015;12(Suppl 1):22–26. DOI:10.3109/15412555.2015.1021915
   PubMedGoogle Scholar
• Koczulla R, Bittkowski N, Andress J, et al. [The German registry of individuals with alpha-1-antitrypsin deficiency-a source for research on patient care]. Pneumologie. 2008;62(11):655–658. DOI:10.1055/s-2008-1038263
   PubMedGoogle Scholar
• Barrecheguren M, Torres-Duran M, Casas-Maldonado F, et al. Spanish Implementation of the New International Alpha-1 antitrypsin deficiency international registry: The European Alpha-1 Research Collaboration (EARCO). Arch Bronconeumol. 2020; Mar 17. pii: S0300-2896(20)30061-2. DOI:10.1016/j.arbres.2020.02.003[Epub ahead of print].
   Web of Science ®Google Scholar
• Sucena M, Gomes J, Guimarães C, et al. Implementation of European Alpha-1 Research Collaboration (EARCO) in Portugal: the future starts now. Pulmonology. 2020;26(4):181–183. pii: S2531-0437(20)30003-9. [Epub ahead of print]. DOI:10.1016/j.pulmoe.2020.01.003
   PubMed Web of Science ®Google Scholar
• Bilton D, Caine N, Cunningham S, et al. Use of a rare disease patient registry in long-term post-authorisation drug studies: a model for collaboration with industry. Lancet Respir Med. 2018;6(7):495–496. DOI:10.1016/S2213-2600(18)30192-9
   PubMed Web of Science ®Google Scholar