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

Autor: Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue Boston, Massachusetts, USA., Byrne BJ; Children's Research Institute, University of Florida, Gainesville, Gainesville, Florida, USA., De Chastonay S; Cure CMD, Torrance, California, USA., Haselkorn T; EpiMetrix, Inc., Los Altos, California, USA., Hughes I; Royal Manchester Children's Hospital, Manchester, United Kingdom., James ES; Audentes Therapeutics, San Francisco, California, USA., Kuntz NL; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Simon J; Statistics Collaborative, Washington, DC., Swanson LC; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue Boston, Massachusetts, USA., Yang ML; Children's Hospital Colorado, Aurora, Colorado, USA., Yu ZF; Statistics Collaborative, Washington, DC., Yum SW; Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Prasad S; Audentes Therapeutics, San Francisco, California, USA.
Jazyk: angličtina
Zdroj: Muscle & nerve [Muscle Nerve] 2018 Apr; Vol. 57 (4), pp. 550-560. Date of Electronic Publication: 2017 Dec 22.
DOI: 10.1002/mus.26018
Abstrakt: 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.
(© 2017 The Authors Muscle & Nerve Published by Wiley Periodicals, Inc.)
Databáze: MEDLINE
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