Skip to main content

Main menu

  • Home
  • Current issue
  • Past issues
  • Authors/reviewers
    • Instructions for authors
    • Submit a manuscript
    • COVID-19 submission information
    • Institutional open access agreements
    • Peer reviewer login
  • Alerts
  • Subscriptions
  • ERS Publications
    • European Respiratory Journal
    • ERJ Open Research
    • European Respiratory Review
    • Breathe
    • ERS Books
    • ERS publications home

User menu

  • Log in
  • Subscribe
  • Contact Us
  • My Cart

Search

  • Advanced search
  • ERS Publications
    • European Respiratory Journal
    • ERJ Open Research
    • European Respiratory Review
    • Breathe
    • ERS Books
    • ERS publications home

Login

European Respiratory Society

Advanced Search

  • Home
  • Current issue
  • Past issues
  • Authors/reviewers
    • Instructions for authors
    • Submit a manuscript
    • COVID-19 submission information
    • Institutional open access agreements
    • Peer reviewer login
  • Alerts
  • Subscriptions

The flare of care for rare: per aspera ad astra for rare lung diseases!

Marlies Wijsenbeek, Marc Humbert, Thomas Wagner, Michael Kreuter
European Respiratory Review 2023 32: 230006; DOI: 10.1183/16000617.0006-2023
Marlies Wijsenbeek
1Center of Excellence for Interstitial Lung Diseases and Sarcoidosis, Department of Respiratory Medicine, Erasmus Medical Center-University Medical Center Rotterdam, Rotterdam, The Netherlands
2European Reference Network-Lung
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Marlies Wijsenbeek
  • For correspondence: m.wijsenbeek-lourens@erasmusmc.nl
Marc Humbert
2European Reference Network-Lung
3AP-HP, Service de Pneumologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France
4Université Paris-Saclay, Le Kremlin Bicêtre, France
5UMR_S 999, Université Paris-Saclay, INSERM, Groupe hospitalier Marie-Lannelongue Saint Joseph, Le Plessis Robinson, France
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Marc Humbert
Thomas Wagner
2European Reference Network-Lung
6Frankfurt Reference Center for Rare Diseases (FRZSE), Department of Pneumology and Allergology, Universitätsklinikum Frankfurt am Main, Frankfurt am Main, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Michael Kreuter
2European Reference Network-Lung
7Center for interstitial and rare lung diseases, Thoraxklinik, University of Heidelberg, Germany, German Center for Lung Research, Heidelberg, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Michael Kreuter
  • Article
  • Info & Metrics
  • PDF
Loading

Abstract

For rare lung diseases cross border collaborations and joining forces, such as between ERN-LUNG and ERS as well as patient organisations, are crucial to improve diagnosis and management of these diseases. https://bit.ly/3HpqGX1

Rare lung diseases have been noticed for centuries: studies on a mummy of an Egyptian male from the 12th dynasty (1991–1783 BC) showed the presence of an interstitial lung disease called sand pneumoconiosis [1]. Rare disorders have a great impact on patients and their families, yet they are frequently misdiagnosed and undertreated [2]. This is caused, in part, by general as well as healthcare professionals’ lack of knowledge of these disorders. Additionally, because rare disorders are so uncommon, there is frequently a shortage of funding for studies into, and management of, these conditions. The understanding and treatment of rare diseases did not make substantial strides until the end of the 20th century. In 1997, the European Organization for Rare Diseases (EURORDIS) was established to advocate on behalf of patients with rare diseases and their families at the European level [3]. With the adoption of the Orphan Medicinal Products Regulation (following the United States’ Orphan Drug Act), a system of incentives for the development of orphan medications was established in the European Union (EU) in 2000. Orphan medication development and approval in Europe have significantly increased since the establishment of these regulations. However, according to the European Medicines Agency, only 8% of the medications with orphan designation finally made it to the market and thereby to the patients. This leaves a major unmet need for better treatments for the more than 30 million people in Europe suffering from a rare disease, including more than 1.5–3 million people afflicted by rare lung disorders [3–5]. So, while on its own a rare disease (per the European definition) occurs in less than one in 2000 people, together they impact many lives [6].

In 2017, the European Reference Networks (ERNs) for rare diseases were established as a component of the EU Horizon 2020 research and innovation programme [7]. The ERNs bring together medical expert centres and specialists from around Europe to improve the diagnosis, management and treatment of rare diseases as well as to stimulate education and research in this field [8]. ERN-LUNG has expanded since 2017 and currently consists of more than 100 centres in 24 European member states. Nine core networks are representing the main groups of rare respiratory diseases (https://ern-lung.eu/mission/), including interstitial lung diseases (ILD), cystic fibrosis, pulmonary hypertension, primary ciliary dyskinesia, non-cystic fibrosis bronchiectasis, α1-antitrypsin deficiency, mesothelioma, chronic lung allograft dysfunction, and “other rare lung diseases”. A tenth group is currently being formed for sarcoidosis. In the past 5 years, ERN-LUNG has sought and increasingly found its role in bringing together patients and care team members to improve the level of care to the best standards found in Europe. Close collaborations with learned societies, most prominently the European Respiratory Society (ERS), have resulted in shared educational events, publications and guidelines both for patients and healthcare providers. A system of educational scholarships and possibilities for training visits at expert centres has been implemented alongside online courses. Integration with existing clinical research initiatives, such as for bronchiectasis and ILD, has led to better utilisation of resources and additional grants have been won to further strengthen these interactions [9].

In a series of reviews, starting in this issue of the European Respiratory Review, four of the nine core networks present an update on current developments in their respective fields. Cullivan et al. [10] focus on the recent European guidelines for the diagnosis and treatment of pulmonary hypertension, which were also endorsed by ERN-LUNG [11]. In addition, they highlight new developments including potential novel treatment pathways including the platelet-derived growth factor pathway, serotonin pathway, mTOR (mechanistic target of rapamycin) pathway or activin II receptor and bone morphogenetic protein, as well as novel non-pharmacological interventions. Simonneau et al. [12] provide a state of the art review on chronic thromboembolic pulmonary hypertension (CTEPH) based on a summary of the latest international CTEPH conference held in 2021. CTEPH is a rare complication of pulmonary embolism, a highly prevalent situation in every pulmonary practice. Their review provides practical guidance for clinicians to recognise and manage (suspected) CTEPH and includes disease definition, pathophysiology, diagnosis and current treatment strategies.

ILD comprise a wide range of rare and ultra-rare diseases that often pose diagnostic and management challenges. Buschulte et al. [13] present a selection of these diseases including pulmonary alveolar proteinosis, pulmonary microlithiasis, pleuroparenchymal fibroelastosis, rare ILDs of genetic origin and finally they discuss different cystic ILDs.

Lung cancer is common and immunotherapy has significantly improved outcomes for a subgroup of patients with nonsmall cell lung cancer in the past decade. Unfortunately, the prognosis for rarer thoracic tumours, such as malignant pleural mesothelioma and thymic epithelial tumours, remains poor for most patients. Dumoulin et al. [14] guide us through the current treatment options and new developments for these rare thoracic cancers.

The final collaborative review comes from Nathan et al. [15]. Their efforts underline that for diagnosis and management of ultra-rare diseases, such as children's ILD, cross-border collaborations are crucial. Their ERS clinical research collaboration for ILD in children (chILD-EU) is an example of an active and fruitful cross-border collaboration that advances knowledge and management of this young patient group with rare diseases. In their review they provide clues as to when to suspect ILD in children and the subsequent systematic approach for the diagnostic work-up, where there is an increasing role for molecular diagnostics and decreasing role for lung biopsies.

These reviews highlight that in each of these disease areas cross-border collaborations enable small, but important steps forward. Nevertheless, there is still a long road ahead to better diagnosis and management of each of the estimated more than 400 rare lung diseases. Challenges remain to organise and align all different stakeholders to present a strong and unified voice to policymakers to stimulate and facilitate sustainable advances for patients with rare diseases. Initiatives such as the “Rare 2030” foresight study, initiated by the European Parliament and co-funded by the European Commission, and the yet to start European Joint Action “Integration” dealing with better connecting ERNs with the many different national healthcare systems, help to set out policy frameworks to structurally incorporate diagnosis, treatment, care, research, data collection, and European and national infrastructures for rare diseases for the next decade [16]. While the journey to comprehensive support for rare (lung) diseases remains long, joining forces by strong collaborations between ERN-LUNG, ERS and patient organisations, like the European Lung Foundation and patient support groups, as well as other stakeholders in the respiratory field has already set the fire to the “flare of care for rare” and will, in the end, result in optimal care for our patients – per aspera ad astra for rare lung diseases!

Footnotes

  • Provenance: Commissioned article, peer reviewed.

  • Conflict of interest: M. Wijsenbeek has received grants or contracts from Boehringer Ingelheim, Hoffman la Roche, The Netherlands Organisation for Health Research and Development, The Dutch Lung Foundation and The Dutch Pulmonary Fibrosis Patient Association, outside the submitted work; consulting fees from Bristol Myers Squibb, Boehringer Ingelheim, Galapagos, Galecto, Hoffman la Roche, Horizon therapeutics, Kinevant Sciences, Molecure, Nerre Therapeutics, Novartis, PureTech Health, and Respivant, outside the submitted work; payment or honoraria for lectures, presentations, speakers’ bureaus, manuscript writing or educational events from Boehringer Ingelheim, CSL Behring, Hoffman la Roche, and Novartis, outside the submitted work; support for attending meetings and/or travel from Boehringer Ingelheim, Hoffman la Roche and Galapagos, outside the submitted work; participation on a data safety monitoring board or advisory board for Savara and Galapagos, outside the submitted work; and holds leadership or fiduciary roles as: Chair of the Idiopathic Interstitial Pneumonia group of the European Respiratory Society; Member of the board of the Netherlands Respiratory Society; Member of the scientific advisory board of the European Idiopathic Pulmonary Fibrosis and related disorders federation; Chair of the educational committee of the European Reference Network for rare Lung Diseases; Advisory board of the Dutch Lung fibrosis and Sarcoidosis patient associations, outside the submitted work.

  • Conflict of interest: M. Humbert has received grants or contracts from Acceleron, AOP Orphan, Janssen, Merck and Shou Ti, outside the submitted work; consulting fees from Acceleron, Aerovate, Altavant, AOP Orphan, Bayer, Chiesi, Ferrer, Janssen, Merck, MorphogenIX, Shou Ti and United Therapeutics, outside the submitted work; payment or honoraria for lectures, presentations, speakers’ bureaus, manuscript writing or educational events from Janssen and Merck, outside the submitted work; participation on a data safety monitoring board or advisory board for Acceleron, Altavant, Janssen, Merck and United Therapeutics, outside the submitted work.

  • Conflict of interest: T. Wagner has received grants or contracts from European Commission (various grants) and Boehringer Ingelheim, outside the submitted work; payment or honoraria for lectures, presentations, speakers’ bureaus, manuscript writing or educational events from Abbvie GmbH and change for rare, outside the submitted work; and holds leadership or fiduciary roles for ERN-LUNG and DeRN-LUNG, outside the submitted work.

  • Conflict of interest: M. Kreuter has received grants or contracts from Boehringer and Roche, outside the submitted work; consulting fees from Boehringer, Galapagos and Roche, outside the submitted work; payment or honoraria for lectures, presentations, speakers’ bureaus, manuscript writing or educational events from Boehringer, Galapagos and Roche, outside the submitted work.

  • Received January 6, 2023.
  • Accepted January 17, 2023.
  • Copyright ©The authors 2023
http://creativecommons.org/licenses/by-nc/4.0/

This version is distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0. For commercial reproduction rights and permissions contact permissions{at}ersnet.org

References

  1. ↵
    1. Tapp E,
    2. Curry A,
    3. Anfield C
    . Sand pneumoconiosis in an Egyptian mummy. Br Med J 1975; 2: 276. doi: 10.1136/bmj.2.5965.276-b
    OpenUrlFREE Full Text
  2. ↵
    1. Spagnolo P,
    2. Ryerson CJ,
    3. Putman R, et al.
    Early diagnosis of fibrotic interstitial lung disease: challenges and opportunities. Lancet Respir Med 2021: 9: 1065–1076. doi:10.1016/S2213-2600(21)00017-5
    OpenUrl
  3. ↵
    1. EURORDIS
    . Who we are. www.eurordis.org/who-we-are/our-vision-mission/ Date last accessed: 2 January 2023.
    1. McCarthy C,
    2. Lara Gallego B,
    3. Trapnell BC, et al.
    Epidemiology of rare lung diseases: the challenges and opportunities to improve research and knowledge. Adv Exp Med Biol 2017: 1031: 419–442. doi:10.1007/978-3-319-67144-4_24
    OpenUrl
  4. ↵
    1. European Medicines Agency (EMA)
    . Orphan designation: overview. www.ema.europa.eu/en/human-regulatory/overview/orphan-designation-overview#ema's-role-in-orphan-designation--section Date last accessed: 18 December 2022.
  5. ↵
    1. Schouten A
    . KEI Briefing Note 2020: 4 Selected Government Definitions of Orphan or Rare Diseases. www.keionline.org/bn-2020-4 Date last updated: 3 November 2020.
  6. ↵
    1. European Commission
    . European Reference Networks. https://health.ec.europa.eu/european-reference-networks_en Date last accessed: 2 January 2023.
  7. ↵
    1. Humbert M,
    2. Wagner TO
    . Rare respiratory diseases are ready for primetime: from Rare Disease Day to the European Reference Networks. Eur Respir J 2017; 49: 1700085. doi:10.1183/13993003.00085-2017
    OpenUrlAbstract/FREE Full Text
  8. ↵
    1. Alfaro TM,
    2. Wijsenbeek MS,
    3. Powell P, et al.
    Educational aspects of rare and orphan lung diseases. Respir Res 2021: 22: 92. doi:10.1186/s12931-021-01676-1
    OpenUrl
  9. ↵
    1. Cullivan S,
    2. Gaine S,
    3. Sitbon O
    . New trends in pulmonary hypertension. Eur Respir Rev 2023; in press [https://doi.org/10.1183/16000617.0211-2022].
  10. ↵
    1. Humbert M,
    2. Kovacs G,
    3. Hoeper MM, et al.
    2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Respir J 2023; 61: 2200879. doi:10.1183/13993003.00879-2022
    OpenUrlAbstract/FREE Full Text
  11. ↵
    1. Simonneau G,
    2. Fadel E,
    3. Vonk Noordegraaf A, et al.
    Highlights from the International Chronic Thromboembolic Pulmonary Hypertension Congress 2021. Eur Respir Rev 2023; 32: 220132. DOI:10.1183/16000617.0132-2022
    OpenUrlAbstract/FREE Full Text
  12. ↵
    1. Buschulte K,
    2. Cottin V,
    3. Wijsenbeek M, et al.
    The world of rare interstitial lung diseases. Eur Respir Rev 2023; 32: 220161. DOI:10.1183/16000617.0161-2022
    OpenUrlAbstract/FREE Full Text
  13. ↵
    1. Dumoulin DW,
    2. Bironzo P,
    3. Passiglia F, et al.
    Rare thoracic cancers: a comprehensive overview of diagnosis and management of small cell lung cancer, malignant pleural mesothelioma and thymic epithelial tumours. Eur Respir Rev 2023; 32: 220174. DOI:10.1183/16000617.0174-2022
    OpenUrlAbstract/FREE Full Text
  14. ↵
    1. Nathan N,
    2. Griese M,
    3. Michel K, et al.
    Diagnostic workup of childhood interstitial lung disease. Eur Respir Rev 2023; in press [https://doi.org/10.1183/16000617.0188-2022].
  15. ↵
    1. Kole A,
    2. Hedley V, et al.
    Recommendations from the Rare 2030 Foresight Study: The future of rare diseases starts today. 2021. www.rare2030.eu/recommendations/
PreviousNext
Back to top
View this article with LENS
Vol 32 Issue 167 Table of Contents
European Respiratory Review: 32 (167)
  • Table of Contents
  • Index by author
Email

Thank you for your interest in spreading the word on European Respiratory Society .

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
The flare of care for rare: per aspera ad astra for rare lung diseases!
(Your Name) has sent you a message from European Respiratory Society
(Your Name) thought you would like to see the European Respiratory Society web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Print
Citation Tools
The flare of care for rare: per aspera ad astra for rare lung diseases!
Marlies Wijsenbeek, Marc Humbert, Thomas Wagner, Michael Kreuter
European Respiratory Review Mar 2023, 32 (167) 230006; DOI: 10.1183/16000617.0006-2023

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero

Share
The flare of care for rare: per aspera ad astra for rare lung diseases!
Marlies Wijsenbeek, Marc Humbert, Thomas Wagner, Michael Kreuter
European Respiratory Review Mar 2023, 32 (167) 230006; DOI: 10.1183/16000617.0006-2023
Reddit logo Technorati logo Twitter logo Connotea logo Facebook logo Mendeley logo
Full Text (PDF)

Jump To

  • Article
    • Abstract
    • Footnotes
    • References
  • Info & Metrics
  • PDF

Subjects

  • Interstitial and orphan lung disease
  • Tweet Widget
  • Facebook Like
  • Google Plus One

More in this TOC Section

  • Nonpharmacological interventions in COPD
  • Respiratory infections
Show more Editorials

Related Articles

Navigate

  • Home
  • Current issue
  • Archive

About the ERR

  • Journal information
  • Editorial board
  • Press
  • Permissions and reprints
  • Advertising
  • Sponsorship

The European Respiratory Society

  • Society home
  • myERS
  • Privacy policy
  • Accessibility

ERS publications

  • European Respiratory Journal
  • ERJ Open Research
  • European Respiratory Review
  • Breathe
  • ERS books online
  • ERS Bookshop

Help

  • Feedback

For authors

  • Instructions for authors
  • Publication ethics and malpractice
  • Submit a manuscript

For readers

  • Alerts
  • Subjects
  • RSS

Subscriptions

  • Accessing the ERS publications

Contact us

European Respiratory Society
442 Glossop Road
Sheffield S10 2PX
United Kingdom
Tel: +44 114 2672860
Email: journals@ersnet.org

ISSN

Print ISSN: 0905-9180
Online ISSN: 1600-0617

Copyright © 2023 by the European Respiratory Society