Rare pulmonary diseases and orphan drugs: where do we stand and where are we going to?

Harari, Sergio; Humbert, Marc; Blasi, Francesco; Collard, Harold R.; Matucci‐Cerinic, Marco; Simonneau, Gérald; Vancheri, Carlo; Wells, Athol U.; Cottin, Vincent

doi:10.1183/16000617.0051-2015

Cited by 5 publications

(4 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Functional committees (research and clinical trials committee, ethical issues committee, registries and biobanks committee, patient-recorded outcomes and quality-of-life committee, quality management committee, guidelines and best practice of care committee, communication and outreach committee, cross-border care committee, training and continued medical education committee) The European Respiratory Society has always been very supportive of rare pulmonary disease research, education and care, and the society's publications regularly disseminate novel data and guidelines in these fields [50,51]. Of note, the society will endorse the 7th International Meeting on Pulmonary Rare Diseases and Orphan Drugs, which will take place in Milan, Italy on February 24-25.…”

Section: Ern-lung Board (Representatives From All Providers Patient mentioning

confidence: 99%

Rare respiratory diseases are ready for primetime: from Rare Disease Day to the European Reference Networks

Humbert

Wagner

2017

Eur Respir J

Self Cite

View full text Add to dashboard Cite

show abstract

Section: Ern-lung Board (Representatives From All Providers Patient mentioning

confidence: 99%

Rare respiratory diseases are ready for primetime: from Rare Disease Day to the European Reference Networks

Humbert

Wagner

2017

Eur Respir J

Self Cite

View full text Add to dashboard Cite

show abstract

“…Mucosal nodules are visible as rounded, elliptic, or irregular hyperplasia initiated by tumour, infection, autoimmunity, trauma or foreign matter [5]. Many noninfectious diseases, such as eosinophilia, amyloidosis, sarcoidosis, Wegener's granuloma, langerhans cell histiocytosis, foreign bodies ect., are associated with the formation of mucosal nodules, especially significant bronchial lesions [4,[6][7][8]. Here we introduce the differential diagnoses and literature review of several rare bronchial diseases.…”

Section: Discussionmentioning

confidence: 99%

Extensive eye-oral-bronchial mucosal nodules with eosinopgillia: a rare case report and literature review

Leng

Wang

et al. 2020

BMC Pulm Med

View full text Add to dashboard Cite

Background Mucosal nodules can be caused by infection, inflammation and neoplastic disease. Many noninfectious diseases, such as eosinophilia, amyloidosis, sarcoidosis, Wegener’s granuloma, langerhans cell histiocytosis etc., are associated with the formation of multisytem mucosal nodules, especially significant bronchial lesions. Detailed medical history, comprehensive metabolic profile, biopsy specimen and imaging examinations are required for differentiating among these disorders. The process of diagnosis and treatment of our patient’s mucosal nodules was challenging, which could be helpful to similar cases. Case presentation We represent a case of a 29-year-old woman with plentiful nodules of unknown origin on extensive mucous membranes. Biopsy specimen reports inflammatory lesions with large numbers of neutrophils, lymphocytes, and varying degrees of eosinophils. Treatment of anti-infection, anti-tussive and anti-allergic was ineffective, but glucocorticoid showed great improvement to her symptoms. Conclusion We experienced a rare case with plentiful nodules of unknown origin on extensive mucous membranes. She may be a specific phenotype of eosinophilia or may be a novel multisystem disease with respiratory system as the primary symptom. The diagnosis of our patient remains unclear, but tentative glucocorticoid therapy was beneficial.

show abstract

“…Rare diseases are challenging for both treating physicians and researchers, as they tend to be exposed to a limited number of cases. Most of these conditions are orphan, as they are ultrarare, not widely researched and no effective treatment strategies or approved drugs exist [75]. The 2018 ERS International Congress included several educational and scientific sessions on rare lung diseases, where clinicians and scientists from all around the world shared and discussed new data on the pathogenesis, diagnosis and treatment of these neglected disorders.…”

Section: Introductionmentioning

confidence: 99%

Research highlights from the 2018 ERS International Congress: interstitial lung diseases

et al. 2019

View full text Add to dashboard Cite

This article reviews a selection of the scientific presentations on interstitial lung disease (ILD)/diffuse parenchymal lung disease (DPLD) that were made at the 2018 European Respiratory Society (ERS) International Congress in Paris. A number of advances in the epidemiology, pathogenesis, diagnosis and treatment of these disorders were presented and discussed by clinicians and researchers. The research topics span over all four groups of ERS Assembly 12: Interstitial Lung Diseases (Group 12.01: Idiopathic interstitial pneumonias; Group 12.02: ILD/DPLD of known origin; Group 12.03: Sarcoidosis and other granulomatous ILD/DPLD; Group 12.04: Rare ILD/DPLD).

show abstract

Rare pulmonary diseases and orphan drugs: where do we stand and where are we going to?

Cited by 5 publications

References 13 publications

Rare respiratory diseases are ready for primetime: from Rare Disease Day to the European Reference Networks

Rare respiratory diseases are ready for primetime: from Rare Disease Day to the European Reference Networks

Extensive eye-oral-bronchial mucosal nodules with eosinopgillia: a rare case report and literature review

Research highlights from the 2018 ERS International Congress: interstitial lung diseases

Contact Info

Product

Resources

About