Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia

Suzanne Crowley¹, Inês Azevedo^{2

3}, Mieke Boon⁴, Andrew Bush⁵, Ernst Eber⁶, Eric Haarman⁷, Bulent Karadag⁸, Karsten Kötz⁹, Margaret Leigh¹⁰, Antonio Moreno-Galdó^{11

12}, Huda Mussaffi¹³, Kim G Nielsen¹⁴, Heymut Omran¹⁵, Jean-François Papon¹⁶, Petr Pohunek¹⁷, Kostas Priftis¹⁸, Bernhard Rindlisbacher¹⁹, Francesca Santamaria²⁰, Arunas Valiulis^{21

22}, Michal Witt²³, Panayiotis Yiallouros²⁴, Zorica Zivkovic^{25

26}, Claudia E Kuehni²⁷, Jane S Lucas²⁸

Affiliations

¹ Paediatric Dept for Lung and Allergic diseases, Oslo University Hospital, Oslo, Norway.
² Centro Materno-Pediátrico, Centro Hospitalar Universitário de S. João, Porto, Portugal.
³ Departamento de Ginecologia-Obstetrícia e Pediatria, Faculdade de Medicina, Universidade do Porto, Porto, Portugal.
⁴ Dept of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
⁵ Depts of Paediatrics and Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK.
⁶ Division of Paediatric Pulmonology and Allergology, Dept of Paediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.
⁷ Dept of Pediatric Pulmonology, VU University Medical Center, Amsterdam, The Netherlands.
⁸ Dept of Pediatric Pulmonology, Marmara University, School of Medicine, Istanbul, Turkey.
⁹ Queen Silvias Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.
¹⁰ Dept of Pediatrics and Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
¹¹ Pediatric Pulmonology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
¹² Universitat Autònoma de Barcelona, CIBERER, Barcelona, Spain.
¹³ Schneider Children's Medical Center of Israel, Petach-Tikva and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
¹⁴ Danish PCD Centre, Pediatric Pulmonary Service, Dept of Pediatrics and Adolescent Medicine, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark.
¹⁵ Dept of General Pediatrics, University Hospital, Westfalian Wilhelms-University, Muenster, Germany.
¹⁶ AP-HP, Hôpital Kremlin-Bicetre, Service d'ORL et de Chirurgie Cervico-Faciale and Faculté de Médecine, Université Paris-Saclay, 94070 Le Kremlin-Bicêtre, INSERM, U955 and CNRS, ERL 7240, Créteil, France.
¹⁷ Paediatric Dept, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
¹⁸ 3rd Dept of Paediatrics, University General Hospital Attikon, National and Kapodistrian University of Athens, Athens, Greece.
¹⁹ Patient Association Kartagener Syndrom und Primäre Ciliäre Dyskinesie e.V., Steffisburg, Switzerland.
²⁰ Pediatric Pulmonology, Dept of Translational Medical Sciences, Federico II University, Azienda Ospedaliera Universitaria Federico II, Naples, Italy.
²¹ Vilnius University Medical Faculty, Institute of Clinical Medicine, Clinic of Children's Diseases, Vilnius, Lithuania.
²² European Academy of Paediatrics (EAP/UEMS-SP), Brussels, Belgium.
²³ Dept of Molecular and Clinical Genetics, Institute of Human Genetics Polish Academy of Sciences, Poznan, Poland.
²⁴ Medical School, University of Cyprus, Nicosia, Cyprus.
²⁵ Children's Hospital for Lung Diseases and TB, Medical Centre "Dr Dragisa Misovic", Belgrade, Serbia.
²⁶ Faculty of Pharmacy Novi Sad, Business Academy, Novi Sad, Serbia.
²⁷ Institute of Social and Preventive Medicine and Paediatric Respiratory Medicine, Children's University Hospital of Bern, University of Bern, Bern, Switzerland.
²⁸ Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust and Clinical and Experimental Medicine, University of Southampton, Southampton, UK.

PMID: 32964005
PMCID: PMC7487359
DOI: 10.1183/23120541.00377-2020

Editorial

Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia

Suzanne Crowley et al. ERJ Open Res. 2020.

. 2020 Sep 14;6(3):00377-2020.

doi: 10.1183/23120541.00377-2020. eCollection 2020 Jul.

Authors

Affiliations

¹ Paediatric Dept for Lung and Allergic diseases, Oslo University Hospital, Oslo, Norway.
² Centro Materno-Pediátrico, Centro Hospitalar Universitário de S. João, Porto, Portugal.
³ Departamento de Ginecologia-Obstetrícia e Pediatria, Faculdade de Medicina, Universidade do Porto, Porto, Portugal.
⁴ Dept of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
⁵ Depts of Paediatrics and Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK.
⁶ Division of Paediatric Pulmonology and Allergology, Dept of Paediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.
⁷ Dept of Pediatric Pulmonology, VU University Medical Center, Amsterdam, The Netherlands.
⁸ Dept of Pediatric Pulmonology, Marmara University, School of Medicine, Istanbul, Turkey.
⁹ Queen Silvias Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.
¹⁰ Dept of Pediatrics and Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
¹¹ Pediatric Pulmonology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
¹² Universitat Autònoma de Barcelona, CIBERER, Barcelona, Spain.
¹³ Schneider Children's Medical Center of Israel, Petach-Tikva and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
¹⁴ Danish PCD Centre, Pediatric Pulmonary Service, Dept of Pediatrics and Adolescent Medicine, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark.
¹⁵ Dept of General Pediatrics, University Hospital, Westfalian Wilhelms-University, Muenster, Germany.
¹⁶ AP-HP, Hôpital Kremlin-Bicetre, Service d'ORL et de Chirurgie Cervico-Faciale and Faculté de Médecine, Université Paris-Saclay, 94070 Le Kremlin-Bicêtre, INSERM, U955 and CNRS, ERL 7240, Créteil, France.
¹⁷ Paediatric Dept, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
¹⁸ 3rd Dept of Paediatrics, University General Hospital Attikon, National and Kapodistrian University of Athens, Athens, Greece.
¹⁹ Patient Association Kartagener Syndrom und Primäre Ciliäre Dyskinesie e.V., Steffisburg, Switzerland.
²⁰ Pediatric Pulmonology, Dept of Translational Medical Sciences, Federico II University, Azienda Ospedaliera Universitaria Federico II, Naples, Italy.
²¹ Vilnius University Medical Faculty, Institute of Clinical Medicine, Clinic of Children's Diseases, Vilnius, Lithuania.
²² European Academy of Paediatrics (EAP/UEMS-SP), Brussels, Belgium.
²³ Dept of Molecular and Clinical Genetics, Institute of Human Genetics Polish Academy of Sciences, Poznan, Poland.
²⁴ Medical School, University of Cyprus, Nicosia, Cyprus.
²⁵ Children's Hospital for Lung Diseases and TB, Medical Centre "Dr Dragisa Misovic", Belgrade, Serbia.
²⁶ Faculty of Pharmacy Novi Sad, Business Academy, Novi Sad, Serbia.
²⁷ Institute of Social and Preventive Medicine and Paediatric Respiratory Medicine, Children's University Hospital of Bern, University of Bern, Bern, Switzerland.
²⁸ Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust and Clinical and Experimental Medicine, University of Southampton, Southampton, UK.

PMID: 32964005
PMCID: PMC7487359
DOI: 10.1183/23120541.00377-2020

Abstract

Primary ciliary dyskinesia, a rare disease causing bronchiectasis, lacks a sound evidence base for treatment. @beatpcd proposes 1) forming a PCD European clinical trial network to address this situation and 2) conducting n-of-1 trials to access medication. https://bit.ly/3j5blfM.

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Conflict of interest statement

Conflict of interest: S. Crowley has nothing to disclose. Conflict of interest: I. Azevedo has nothing to disclose. Conflict of interest: M. Boon reports grants from Horizon 2020 MyCyFAPP and KOOR post-doctoral funding from University Hospital Leuven, outside the submitted work. Conflict of interest: A. Bush has nothing to disclose. Conflict of interest: E. Eber has nothing to disclose. Conflict of interest: E. Haarman has nothing to disclose. Conflict of interest: B. Karadag has nothing to disclose. Conflict of interest: K. Kötz has nothing to disclose. Conflict of interest: M. Leigh reports a primary ciliary dyskinesia (PCD) research grant from the National Institutes of Health and a grant for a PCD clinical trial from Parion Sciences, outside the submitted work. Conflict of interest: A. Moreno-Galdó reports support for travel to and registration for medical conferences from Actelion, Abbvie and Novartis, outside the submitted work. Conflict of interest: H. Mussaffi has nothing to disclose. Conflict of interest: K.G. Nielsen has nothing to disclose. Conflict of interest: H. Omran has nothing to disclose Conflict of interest: J-F. Papon has nothing to disclose. Conflict of interest: P. Pohunek reports grants from the Ministry of Health, Czech Republic, during the conduct of the study. Conflict of interest: K. Priftis has nothing to disclose. Conflict of interest: B. Rindlisbacher has nothing to disclose. Conflict of interest: F. Santamaria has nothing to disclose. Conflict of interest: A. Valiulis has nothing to disclose. Conflict of interest: M. Witt has nothing to disclose. Conflict of interest: P. Yiallouros has nothing to disclose. Conflict of interest: Z. Zivkovic has nothing to disclose Conflict of interest: C.E. Kuehni reports grants from Swiss National Science Foundation during the conduct of the study. Conflict of interest: J.S. Lucas has nothing to disclose.

References

1. Ferreira CR. The burden of rare diseases. Am J Med Genet 2019; 179A: 885–892. doi:10.1002/ajmg.a.61124 - DOI - PubMed
1. Richter T, Nestler-Parr S, Babela R, et al. . Rare disease terminology and definitions-a systematic global review: report of the ISPOR Rare Disease Special Interest Group. Value Health 2015; 18: 906–914. doi:10.1016/j.jval.2015.05.008 - DOI - PubMed
1. Tadrous M, Khuu W, Paterson JM, et al. . Off-label use of inhaled tobramycin in Ontario, Canada. Thorax 2016; 71: 862–864. doi:10.1136/thoraxjnl-2015-208145 - DOI - PubMed
1. Goutaki M, Meier AB, Halbeisen FS, et al. . Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis. Eur Respir J 2016; 48: 1081–1095. doi:10.1183/13993003.00736-2016 - DOI - PubMed
1. Kuehni CE, Frischer T, Strippoli M-PF, et al. . Factors influencing the age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J 2010; 36: 1248–1258. doi:10.1183/09031936.00001010 - DOI - PubMed

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Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia

Affiliations

Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia

Authors

Affiliations

Abstract

Conflict of interest statement

References

Publication types

Grants and funding

LinkOut - more resources

Full Text Sources