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

Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients

Sophie Denamur  1   2 , Guy Touati  3 , Stéphane Debelleix  4 , Léna Damaj  5 , Magalie Barth  6 , Marine Tardieu  1 , Magali Gorce  3 , Pierre Broué  3 , Didier Lacombe  4   7 , François Labarthe  1   8
Affiliations

Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients

Sophie Denamur et al. ERJ Open Res. .

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.

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Conflict of interest statement

Conflict of interest: D. Lacombe reports personal fees from Sanofi-Genzyme outside the submitted work. The other authors all declare no conflict of interest.

Figures

FIGURE 1
FIGURE 1
a) Achievement rate and b) reasons for failure of recommended respiratory tests for 49 mucopolysaccharidosis patients. Results are expressed as the percentage of patients. The absolute number of patients in each group is specified on the corresponding bar. 6MWT: 6-min walk test; SPIR: spirometry; PSG: polysomnography; BG: blood gas analysis; CXR: chest radiography.
See this image and copyright information in PMC

References

    1. Stapleton M, Hoshina H, Sawamoto K, et al. . Critical review of current MPS guidelines and management. Mol Genet Metab 2019; 126: 238–245. doi:10.1016/j.ymgme.2018.07.001 - DOI - PubMed
    1. Burton BK, Jego V, Mikl J, et al. . Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis 2017; 40: 867–874. doi:10.1007/s10545-017-0075-x - DOI - PubMed
    1. Lavery C, Hendriksz CJ, Jones SA. Mortality in patients with Sanfilippo syndrome. Orphanet J Rare Dis 2017; 12: 168. doi:10.1186/s13023-017-0717-y - DOI - PMC - PubMed
    1. Nashed A, Al-Saleh S, Gibbons J, et al. . Sleep-related breathing in children with mucopolysaccharidosis. J Inherit Metab Dis 2009; 32: 544–550. doi:10.1007/s10545-009-1170-4 - DOI - PubMed
    1. HAS. Protocole National de Diagnostic et de Soins (PNDS) Mucopolysaccharidoses n.d. Saint-Denis, Haute Authorité de Santé, 2016.

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