Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients

Sophie Denamur; Guy Touati; Stéphane Debelleix; Léna Damaj; Magalie Barth; Marine Tardieu; Magali Gorce; Pierre Broué; Didier Lacombe; François Labarthe

doi:10.1183/23120541.00567-2021

Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients

ERJ Open Res. 2021 Feb 7;8(1):00567-2021. doi: 10.1183/23120541.00567-2021. eCollection 2022 Jan.

Authors

Sophie Denamur^{1

2}, Guy Touati³, Stéphane Debelleix⁴, Léna Damaj⁵, Magalie Barth⁶, Marine Tardieu¹, Magali Gorce³, Pierre Broué³, Didier Lacombe^{4

7}, François Labarthe^{1

8}

Affiliations

¹ Centre de Référence Maladies Métaboliques ToTeM, CHRU Tours, Tours, France.
² Centre d'Etude des Pathologies Respiratoires, Inserm UMR1100, Université François Rabelais de Tours, Tours, France.
³ Centre de Référence Maladies Métaboliques, CHU Toulouse, Toulouse, France.
⁴ Pneumologie Pédiatrique et Service de Médecine du sommeil, and CIC Pédiatrique CIC-P Bordeaux 1401, CHU Bordeaux, Bordeaux, France.
⁵ Centre de Compétences Maladies Métaboliques, CHU Rennes, Rennes, France.
⁶ Centre de Compétences Maladies Métaboliques, CHU Angers, Angers, France.
⁷ Rare Diseases Genetics and Metabolism, Inserm U1211, Université de Bordeaux, Bordeaux, France.
⁸ N2C, Inserm U1069, Université François Rabelais de Tours, Tours, France.

Abstract

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 https://bit.ly/3G4qp8U.