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Korkmaz et al. Rare Dis Orphan Drugs J 2022;1:16 Rare Disease and
DOI: 10.20517/rdodj.2022.26
Orphan Drugs Journal

Editorial Open Access

The discovery of the Papillon-Lefèvre syndrome, a
rare cathepsin C related lysosomal disease

3
1,2
1,2
Brice Korkmaz , Seda Seren , Elodie Kara , Celia Moss 4
1
INSERM UMR-1100, Research Center for Respiratory Diseases (CEPR), Tours 37032, France.
2
University of Tours, Tours 37032, France.
3
Igyxos S.A. Centre INRAe Val de Loire, Nouzilly 37380, France.
4
Birmingham Women’s and Children’s NHS Foundation Trust, and University of Birmingham, Birmingham B15 2TG, UK.
Correspondence to: Brice Korkmaz, INSERM U-1100, Research Center for Respiratory Diseases (CEPR), University of Tours, 10
Bld. Tonnellé, Tours 37032, France. E-mail: brice.korkmaz@inserm.fr
How to cite this article: Korkmaz B, Seren S, Kara E, Moss C. The discovery of the Papillon-Lefèvre syndrome, a rare cathepsin C
related lysosomal disease. Rare Dis Orphan Drugs J 2022;1:16. https://dx.doi.org/10.20517/rdodj.2022.26
Received: 5 Dec 2022 Accepted: 22 Dec 2022 Published: 27 Dec 2022

Academic Editor: Daniel Scherman Copy Editor: Ying Han Production Editor: Ying Han

From the perspective of unmet medical needs, drug repurposing for rare diseases offers a great opportunity.
There are more than 7000 rare diseases, and over 95% of them lack an approved therapeutic agent, but new
drug development for specific rare diseases is not a priority for the pharmaceutical industry. Drug
repositioning would be a particularly attractive approach for rare diseases for both scientific and
commercial reasons. Two special issues on the topic: “Cathepsin C and Neutrophil serine proteases in rare
diseases” for Rare Disease and Orphan Drugs Journal resulted from the 3rd International Symposium on
Cathepsin C, IsyCatC III (Tours/France, April 2022) organized in memory of Dr. Paul Henri Papillon & Dr.
Paul Philippe Henri Lefèvre.

The International Cathepsin-C Consortium (ICat-CC) was set up in 2016 thanks to the collaboration of
world’s leading specialists from academic labs and industry, working on lysosomal cysteine protease
cathepsin C (CatC) [also known as dipeptidypeptidase 1 (DPP1)] and its target proteases including
neutrophil serine proteases (NSPs, elastase, proteinase 3, cathepsin G and NSP4). Inflammation-mediated
immune cell alterations are associated with many diseases, including acute and chronic inflammatory
diseases and cancer. There is an unmet need for new therapies that go beyond symptomatic relief and
temporary interruption of disease progression. NSPs are locally released in response to pathogens and many

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