TY - JOUR T1 - Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients JF - ERJ Open Research JO - erjor DO - 10.1183/23120541.00567-2021 SP - 00567-2021 AU - Sophie Denamur AU - Guy Touati AU - Stéphane Debelleix AU - Léna Damaj AU - Magalie Barth AU - Marine Tardieu AU - Magali Gorce AU - Pierre Broué AU - Didier Lacombe AU - François Labarthe Y1 - 2022/01/01 UR - http://openres.ersjournals.com/content/early/2022/01/06/23120541.00567-2021.abstract N2 - Mucopolysaccharidoses (MPS) are a group of rare genetic lysosomal storage disorders. The seven types of MPS exhibit a wide spectrum of clinical severity, including cognitive impairment, skeletal and joint abnormalities, short stature, coarsened facial features, vision loss, and cardiovascular and respiratory impairment, which are the leading causes of morbidity and mortality among MPS patients [1–3]. Ear, nose, and throat (ENT) and upper airway manifestations are initially more pronounced and may lead to the initial diagnosis. Lower airway disease becomes more frequent with increasing age. Symptoms can be tracheomalacia, stenosis, and bronchomalacia. Bronchitis and pneumonia can appear and are due to increased secretions and poor airway clearance. Restrictive lung disease predominates among patients with significant skeletal involvement, namely MPS-IV and MPS-VI. Sleep disturbances and obstructive sleep apnoea secondary to airway obstruction are common [4]. Specific therapy, such as enzyme replacement therapy (ERT), is available for most types of MPS.Recommended respiratory tests used as major outcomes in clinical trials for MPS treatment cannot be routinely performed in everyday practice because neurocognitive impairment and motor skill difficulties affect compliance for most MPS patients.FootnotesThis manuscript has recently been accepted for publication in the ERJ Open Research. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJOR online. Please open or download the PDF to view this article.Conflict of interest: Dr. DENAMUR has nothing to disclose.Conflict of interest: Dr. TOUATI has nothing to disclose.Conflict of interest: Dr. DEBELLEIX has nothing to disclose.Conflict of interest: Dr. Damaj has nothing to disclose.Conflict of interest: Dr. BARTH has nothing to disclose.Conflict of interest: Dr. TARDIEU has nothing to disclose.Conflict of interest: Dr. GORCE has nothing to disclose.Conflict of interest: Dr. Broué has nothing to disclose.Conflict of interest: Dr. LACOMBE reports personal fees from Sanofi - Genzyme, outside the submitted work; .Conflict of interest: Dr. LABARTHE has nothing to disclose. ER -