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Multicenter Study
. 2018 Apr;57(4):550-560.
doi: 10.1002/mus.26018. Epub 2017 Dec 22.

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study

Alan H Beggs  1 , Barry J Byrne  2 , Sabine De Chastonay  3 , Tmirah Haselkorn  4 , Imelda Hughes  5 , Emma S James  6 , Nancy L Kuntz  7 , Jennifer Simon  8 , Lindsay C Swanson  1 , Michele L Yang  9 , Zi-Fan Yu  8 , Sabrina W Yum  10 , Suyash Prasad  6
Affiliations
Multicenter Study

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study

Alan H Beggs et al. Muscle Nerve. 2018 Apr.

Abstract

Introduction: X-linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare and natural history studies are few.

Methods: RECENSUS is a multicenter chart review of male XLMTM patients characterizing disease burden and unmet medical needs. Data were collected between September 2014 and June 2016.

Results: Analysis included 112 patients at six clinical sites. Most recent patient age recorded was ≤18 months for 40 patients and >18 months for 72 patients. Mean (SD) age at diagnosis was 3.7 (3.7) months and 54.3 (77.1) months, respectively. Mortality was 44% (64% ≤18 months; 32% >18 months). Premature delivery occurred in 34/110 (31%) births. Nearly all patients (90%) required respiratory support at birth. In the first year of life, patients underwent an average of 3.7 surgeries and spent 35% of the year in the hospital.

Discussion: XLMTM is associated with high mortality, disease burden, and healthcare utilization. Muscle Nerve 57: 550-560, 2018.

Keywords: X-linked myotubular myopathy; centronuclear myopathy; congenital myopathy; disease burden; natural history; retrospective chart review.

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Conflict of interest statement

Conflicts of Interest Disclosure: AHB is an inventor on a patent licensed to Audentes Therapeutics covering methods of gene therapy for X-linked myotubular myopathy. He is a member of the Audentes Therapeutics Board of Scientific and Clinical Advisors and has received support from a sponsored research agreement with Audentes Therapeutics to cover running costs for this study. BJB is an unpaid member of Audentes Therapeutics Board of Scientific and Clinical Advisors. SdC is a volunteer for Cure CMD and has no financial interest in Audentes or related to this study. TH is a paid consultant to Audentes Therapeutics. JS and Z-FY have provided statistical analysis and consulting for this study and for Audentes Therapeutics through their employer, Statistics Collaborative, Inc. LCS has been a consultant for Audentes Therapeutics for data acquisition work on this study. IH, MLY, NLK, and SWY report no conflicts of interest with respect to this study. ESJ and SP are employees and shareholders of Audentes Therapeutics.

Figures

Figure 1
Figure 1
Patient disposition diagram.
Figure 2
Figure 2
Hospital and Surgical Burden: Annual Percentage Time in the Hospital per Patient (A) and Annual Number of Surgeries per Patient (B). “All Patients” = all study participants. “Hospitalized patients only” = patients with recorded hospitalization start and end dates. “Surgery patients” = patients with surgical data and known dates for their surgical procedures.
See this image and copyright information in PMC

Comment in

References

    1. Laporte J, Hu LJ, Kretz C, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet. 1996;13(2):175–182. - PubMed
    1. Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH. X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol. 2005;64(7):555–564. - PubMed
    1. Oliveira J, Oliveira ME, Kress W, et al. Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database. Eur J Hum Genet. 2013;21(5):540–549. - PMC - PubMed
    1. Blondeau F, Laporte J, Bodin S, Superti-Furga G, Payrastre B, Mandel JL. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum Mol Genet. 2000;9(15):2223–2229. - PubMed
    1. Laporte J, Blondeau F, Buj-Bello A, Mandel JL. The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet. 2001;17(4):221–228. - PubMed

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