PMID- 32791925
OWN - NLM
STAT- MEDLINE
DCOM- 20211108
LR  - 20211108
IS  - 1541-2563 (Electronic)
IS  - 1541-2563 (Linking)
VI  - 17
IP  - 4
DP  - 2020 Aug
TI  - The Importance of Reference Centers and Registries for Rare Diseases: The Example 
      of Alpha-1 Antitrypsin Deficiency.
PG  - 346-354
LID - 10.1080/15412555.2020.1795824 [doi]
AB  - Alpha-1 antitrypsin deficiency (AATD) is a rare and underdiagnosed disease that 
      is associated with the development of liver disease in adults and children and 
      pulmonary emphysema in adults. Several studies have shown that there is limited 
      knowledge about the disease and its diagnosis among health care providers, and 
      there is an important inequity in the access to specialized care and appropriate 
      treatment across Europe. The European Commision and the European Respiratory 
      Society (ERS) recommend that the care of patients with AATD must be organized in 
      reference centers at national or regional levels. These reference centers must 
      provide optimal clinical care in terms of adequate diagnostic techniques, such as 
      phenotyping and genotyping, and ensure access to treatment according to 
      guidelines. Reference centers should also provide continuous medical education 
      for health care professionals, genetic counseling, collaboration with patient 
      associations and promote collaborative research and clinical trials with new and 
      existing treatments for the disease. These centers must have a registry of their 
      activity and collaborate with large, international, multicenter registries, such 
      as the European Alpha-1 antitrypsin Deficiency Research Collaboration (EARCO) 
      international registry, which is endorsed by the ERS, and aims to recruit up to 
      3,000 patients over a period of three years and prospectively follow them to 
      better understand the natural history of the disease and the impact of different 
      treatments on outcomes in a real life setting. International collaboration and 
      standardized collection of high-quality prospective data will provide new 
      insights into the clinical manifestations and prognosis of AATD.
FAU - Miravitlles, Marc
AU  - Miravitlles M
AUID- ORCID: 0000-0002-9850-9520
AD  - Pneumology Department, Hospital Universitari Vall d'Hebron; Vall d'Hebron 
      Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, 
      Spain.
AD  - Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias (CIBERES), 
      Instituto de Salud Carlos III, Madrid, Spain.
FAU - Nunez, Alexa
AU  - Nunez A
AD  - Pneumology Department, Hospital Universitari Vall d'Hebron; Vall d'Hebron 
      Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, 
      Spain.
AD  - Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias (CIBERES), 
      Instituto de Salud Carlos III, Madrid, Spain.
FAU - Torres-Duran, Maria
AU  - Torres-Duran M
AD  - Servicio de Neumologia, Hospital Alvaro Cunqueiro. NeumoVigoI + i Research Group, 
      IIS Galicia Sur, Vigo, Spain.
FAU - Casas-Maldonado, Francisco
AU  - Casas-Maldonado F
AD  - Servicio de Neumologia, Hospital Universitario San Cecilio, Departamento de 
      Medicina, Facultad de Medicina, Universidad de Granada, Granada, Spain.
FAU - Rodriguez-Hermosa, Juan Luis
AU  - Rodriguez-Hermosa JL
AD  - Servicio de Neumologia. Hospital Clinico de San Carlos, Departamento de Medicina, 
      Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain.
FAU - Lopez-Campos, Jose Luis
AU  - Lopez-Campos JL
AUID- ORCID: 0000-0003-1703-1367
AD  - Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias (CIBERES), 
      Instituto de Salud Carlos III, Madrid, Spain.
AD  - Unidad Medico-Quirurgica de Enfermedades Respiratorias. Instituto de Biomedicina 
      de Sevilla (IBiS). Hospital Universitario Virgen del Rocio/Universidad de 
      Sevilla, Sevilla, Spain.
FAU - Calle, Myriam
AU  - Calle M
AD  - Servicio de Neumologia. Hospital Clinico de San Carlos, Departamento de Medicina, 
      Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain.
FAU - Rodriguez, Esther
AU  - Rodriguez E
AD  - Pneumology Department, Hospital Universitari Vall d'Hebron; Vall d'Hebron 
      Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, 
      Spain.
AD  - Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias (CIBERES), 
      Instituto de Salud Carlos III, Madrid, Spain.
FAU - Esquinas, Cristina
AU  - Esquinas C
AD  - Pneumology Department, Hospital Universitari Vall d'Hebron; Vall d'Hebron 
      Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, 
      Spain.
AD  - Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias (CIBERES), 
      Instituto de Salud Carlos III, Madrid, Spain.
FAU - Barrecheguren, Miriam
AU  - Barrecheguren M
AD  - Pneumology Department, Hospital Universitari Vall d'Hebron; Vall d'Hebron 
      Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, 
      Spain.
AD  - Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias (CIBERES), 
      Instituto de Salud Carlos III, Madrid, Spain.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - COPD
JT  - COPD
JID - 101211769
SB  - IM
MH  - Adult
MH  - Child
MH  - Humans
MH  - *Rare Diseases/diagnosis/epidemiology/therapy
MH  - *Registries
MH  - *alpha 1-Antitrypsin Deficiency/diagnosis/epidemiology/therapy
OTO - NOTNLM
OT  - alpha-1 antitrypsin
OT  - augmentation therapy
OT  - registries
EDAT- 2020/08/15 06:00
MHDA- 2021/11/09 06:00
CRDT- 2020/08/15 06:00
PHST- 2020/08/15 06:00 [entrez]
PHST- 2020/08/15 06:00 [pubmed]
PHST- 2021/11/09 06:00 [medline]
AID - 10.1080/15412555.2020.1795824 [doi]
PST - ppublish
SO  - COPD. 2020 Aug;17(4):346-354. doi: 10.1080/15412555.2020.1795824.